#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRRC47	57470	broad.mit.edu	37	1	3699302	3699302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:3699302C>A	ENST00000378251.1	-	5	1363	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	446							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.E446*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGGTAATTTTCATTTCCATCC	0.443																																							uc001akx.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1336-1338)GAA>TAA		leucine rich repeat containing 47							150.0	128.0	135.0					1																	3699302		2203	4300	6503	SO:0001587	stop_gained	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3699302C>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1336G>T	1.37:g.3699302C>A	ENSP00000367498:p.Glu446*						p.E446*	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	5	1364	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	446					Q9ULN5	Nonsense_Mutation	SNP	ENST00000378251.1	37	c.1336G>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	37	6.191926	0.97362	.	.	ENSG00000130764	ENST00000378251	.	.	.	4.49	4.49	0.54785	.	0.377447	0.29444	N	0.012131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.3505	16.1741	0.81840	0.0:1.0:0.0:0.0	.	.	.	.	X	446	.	ENSP00000367498:E446X	E	-	1	0	LRRC47	3689162	1.000000	0.71417	0.071000	0.20095	0.960000	0.62799	3.432000	0.52824	2.052000	0.61016	0.491000	0.48974	GAA		0.443	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		6	85	1	0	0.00448238	0.004482	0.00461156	6	85				
KIF1B	23095	broad.mit.edu	37	1	10436630	10436630	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:10436630C>G	ENST00000377086.1	+	49	5638	c.5436C>G	c.(5434-5436)agC>agG	p.S1812R	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1766R			O60333	KIF1B_HUMAN	kinesin family member 1B	1812					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S1766R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATGCCCGAGCCAGTCGAAAT	0.517																																							uc001aqx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(5434-5436)AGC>AGG		kinesin family member 1B isoform b							143.0	146.0	145.0					1																	10436630		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10436630C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5436C>G	1.37:g.10436630C>G	ENSP00000366290:p.Ser1812Arg					KIF1B_uc001aqw.3_Missense_Mutation_p.S1766R|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron	p.S1812R	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	49	5638	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1812					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.5436C>G		.	.	.	.	.	.	.	.	.	.	C	14.58	2.577033	0.45902	.	.	ENSG00000054523	ENST00000263934;ENST00000377086	T;T	0.71934	-0.54;-0.61	5.57	3.36	0.38483	.	.	.	.	.	T	0.50939	0.1645	N	0.14661	0.345	0.80722	D	1	B;B	0.19445	0.021;0.036	B;B	0.22386	0.018;0.039	T	0.50866	-0.8777	9	0.62326	D	0.03	.	6.5789	0.22583	0.136:0.6419:0.0:0.2222	.	1812;1766	O60333;O60333-2	KIF1B_HUMAN;.	R	1766;1812	ENSP00000263934:S1766R;ENSP00000366290:S1812R	ENSP00000263934:S1766R	S	+	3	2	KIF1B	10359217	0.999000	0.42202	0.974000	0.42286	0.895000	0.52256	0.792000	0.26929	1.342000	0.45619	0.650000	0.86243	AGC		0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			86	80	0	0	0	0.01441	0	86	80				
TMCO4	255104	broad.mit.edu	37	1	20073736	20073736	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:20073736C>T	ENST00000294543.6	-	8	774	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	TMCO4_ENST00000375127.1_Missense_Mutation_p.R178Q|TMCO4_ENST00000375122.2_Missense_Mutation_p.R178Q	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	178						integral component of membrane (GO:0016021)		p.R178Q(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TTTCTTCTTTCGGGATGCCTC	0.562																																							uc001bcn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)CGA>CAA		transmembrane and coiled-coil domains 4																																				SO:0001583	missense	255104					integral to membrane		g.chr1:20073736C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.533G>A	1.37:g.20073736C>T	ENSP00000294543:p.Arg178Gln					TMCO4_uc001bcm.2_Missense_Mutation_p.R178Q|TMCO4_uc001bco.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcp.1_Missense_Mutation_p.R178Q|TMCO4_uc009vpn.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcq.1_Missense_Mutation_p.R178Q	p.R178Q	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	8	775	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	178			Potential.		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.533G>A	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100753	0.94245	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.33438	1.45;1.47;1.41	5.31	5.31	0.75309	.	0.131649	0.48767	D	0.000180	T	0.50000	0.1590	M	0.71581	2.175	0.45822	D	0.998697	D;D	0.71674	0.996;0.998	P;P	0.58780	0.591;0.845	T	0.44267	-0.9339	10	0.35671	T	0.21	-8.8037	16.5105	0.84283	0.0:1.0:0.0:0.0	.	178;178	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	Q	178	ENSP00000294543:R178Q;ENSP00000364269:R178Q;ENSP00000364264:R178Q	ENSP00000294543:R178Q	R	-	2	0	TMCO4	19946323	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	5.035000	0.64158	2.484000	0.83849	0.655000	0.94253	CGA		0.562	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		30	351	0	0	0	0.013726	0	30	351				
SNRNP40	9410	broad.mit.edu	37	1	31769485	31769485	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:31769485C>A	ENST00000263694.4	-	1	132	c.114G>T	c.(112-114)caG>caT	p.Q38H	SNRNP40_ENST00000446633.2_Missense_Mutation_p.Q38H|ZCCHC17_ENST00000422613.2_5'Flank|ZCCHC17_ENST00000344147.5_5'Flank|ZCCHC17_ENST00000546109.1_5'Flank|ZCCHC17_ENST00000373714.1_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	38					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)	p.Q38H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCGGCGTCGCCTGCTGCTGCC	0.642																																							uc001bso.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CAG>CAT		WD repeat domain 57 (U5 snRNP specific)							36.0	40.0	39.0					1																	31769485		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31769485C>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.114G>T	1.37:g.31769485C>A	ENSP00000263694:p.Gln38His					SNRNP40_uc010oge.1_Missense_Mutation_p.Q38H|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	p.Q38H	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN			1	160	-			38					B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.114G>T	CCDS340.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777848	0.31502	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.56103	0.48;0.53	5.66	1.5	0.22942	.	0.808226	0.10647	N	0.650377	T	0.29423	0.0733	N	0.08118	0	0.18873	N	0.999989	P;B	0.50943	0.94;0.41	P;B	0.44732	0.459;0.095	T	0.08513	-1.0718	10	0.15499	T	0.54	.	5.0001	0.14261	0.0:0.4619:0.2814:0.2567	.	38;38	B4DQJ1;Q96DI7	.;SNR40_HUMAN	H	38	ENSP00000263694:Q38H;ENSP00000406841:Q38H	ENSP00000263694:Q38H	Q	-	3	2	SNRNP40	31542072	0.555000	0.26530	0.827000	0.32855	0.991000	0.79684	0.027000	0.13621	0.018000	0.15052	-0.140000	0.14226	CAG		0.642	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		45	68	1	0	4.01344e-20	0.01441	4.84053e-20	45	68				
LRRC7	57554	broad.mit.edu	37	1	70541760	70541760	+	Splice_Site	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:70541760G>T	ENST00000035383.5	+	22	4147	c.4117G>T	c.(4117-4119)Gca>Tca	p.A1373S	LRRC7_ENST00000310961.5_Splice_Site_p.A1331S|LRRC7_ENST00000415775.2_Splice_Site_p.A657S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1373						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A1373S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCCACAGGCAGGCAGCCA	0.493																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4117-4119)GCA>TCA		leucine rich repeat containing 7							40.0	40.0	40.0					1																	70541760		2203	4300	6503	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541760G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4117-1G>T	1.37:g.70541760G>T						LRRC7_uc009wbg.2_Missense_Mutation_p.A657S|LRRC7_uc001deq.2_Missense_Mutation_p.A567S	p.A1373S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4147	+			1373					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4117G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524114	0.44866	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.35789	1.29;1.34;2.43	5.66	4.74	0.60224	.	0.409726	0.25250	N	0.032037	T	0.09905	0.0243	N	0.14661	0.345	0.33430	D	0.580947	B;B;B	0.19583	0.037;0.007;0.004	B;B;B	0.15484	0.013;0.009;0.003	T	0.09271	-1.0682	9	.	.	.	.	13.1148	0.59294	0.0765:0.0:0.9235:0.0	.	657;1326;1373	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1331;1373;657;1149	ENSP00000309245:A1331S;ENSP00000035383:A1373S;ENSP00000394867:A657S	.	A	+	1	0	LRRC7	70314348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.395000	0.66291	2.665000	0.90641	0.650000	0.86243	GCA		0.493	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Missense_Mutation	19	28	1	0	1.96292e-10	0.010504	2.18306e-10	19	28				
USP33	23032	broad.mit.edu	37	1	78194222	78194222	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:78194222C>A	ENST00000370793.1	-	11	1332	c.986G>T	c.(985-987)aGa>aTa	p.R329I	USP33_ENST00000370792.3_Missense_Mutation_p.R329I|USP33_ENST00000357428.1_Missense_Mutation_p.R329I|USP33_ENST00000370794.3_Missense_Mutation_p.R298I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	329	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R329I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTTCTGCTCTATCACTGTT	0.368																																					Melanoma(152;72 1870 11110 26780 42647)	Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(985-987)AGA>ATA		ubiquitin specific protease 33 isoform 1							155.0	134.0	141.0					1																	78194222		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78194222C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.986G>T	1.37:g.78194222C>A	ENSP00000359829:p.Arg329Ile					USP33_uc001dhs.2_Missense_Mutation_p.R50I|USP33_uc001dhu.2_Missense_Mutation_p.R298I|USP33_uc001dhv.2_Missense_Mutation_p.R134I|USP33_uc001dhw.2_Missense_Mutation_p.R329I	p.R329I	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			11	1333	-			329					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.986G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913599	0.52439	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.10960	2.85;2.84;2.84;2.82	5.3	4.17	0.49024	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.434979	0.23268	N	0.050042	T	0.06600	0.0169	L	0.46157	1.445	0.45284	D	0.998283	B;B;B	0.26318	0.116;0.137;0.146	B;B;B	0.37508	0.119;0.252;0.189	T	0.10314	-1.0635	10	0.40728	T	0.16	.	11.5426	0.50675	0.0:0.071:0.0:0.929	.	329;298;329	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	I	298;329;329;329	ENSP00000359830:R298I;ENSP00000359829:R329I;ENSP00000350009:R329I;ENSP00000359828:R329I	ENSP00000350009:R329I	R	-	2	0	USP33	77966810	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.436000	0.52856	0.955000	0.37878	-0.383000	0.06682	AGA		0.368	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		36	70	1	0	6.19805e-25	0.005524	7.60379e-25	36	70				
LPHN2	23266	broad.mit.edu	37	1	82409320	82409320	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:82409320T>G	ENST00000370728.1	+	8	1710	c.1065T>G	c.(1063-1065)gaT>gaG	p.D355E	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.D359E|LPHN2_ENST00000370715.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370727.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370730.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370723.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370713.1_Missense_Mutation_p.D355E|LPHN2_ENST00000271029.4_Missense_Mutation_p.D355E|LPHN2_ENST00000394879.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370717.2_Missense_Mutation_p.D355E|LPHN2_ENST00000319517.6_Missense_Mutation_p.D355E|LPHN2_ENST00000335786.5_Missense_Mutation_p.D355E|LPHN2_ENST00000370725.1_Missense_Mutation_p.D355E|LPHN2_ENST00000359929.3_Missense_Mutation_p.D355E			O95490	LPHN2_HUMAN	latrophilin 2	355	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D355E(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATGTAGATGTTCCCTTCC	0.358																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1063-1065)GAT>GAG		latrophilin 2 precursor							161.0	157.0	159.0					1																	82409320		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409320T>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1065T>G	1.37:g.82409320T>G	ENSP00000359763:p.Asp355Glu					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D355E|LPHN2_uc001div.2_Missense_Mutation_p.D355E|LPHN2_uc009wcd.2_Missense_Mutation_p.D355E	p.D355E	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1246	+			355			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1065T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.16|14.16	2.451190|2.451190	0.43531|0.43531	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.88741|.	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42|.	5.54|5.54	1.36|1.36	0.22044|0.22044	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51550|0.51550	0.1681|0.1681	M|M	0.71581|0.71581	2.175|2.175	0.43271|0.43271	D|D	0.995226|0.995226	B;P;P|.	0.48764|.	0.321;0.915;0.575|.	B;P;B|.	0.45712|.	0.205;0.491;0.205|.	T|T	0.51988|0.51988	-0.8635|-0.8635	10|5	0.72032|.	D|.	0.01|.	.|.	9.9459|9.9459	0.41609|0.41609	0.0:0.325:0.0:0.675|0.0:0.325:0.0:0.675	.|.	355;355;355|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	E|R	359;355;355;355;355;355;355;355;355;355;355;355;355;355|223	ENSP00000359756:D359E;ENSP00000359763:D355E;ENSP00000359765:D355E;ENSP00000359762:D355E;ENSP00000359760:D355E;ENSP00000359758:D355E;ENSP00000353006:D355E;ENSP00000359750:D355E;ENSP00000359748:D355E;ENSP00000322270:D355E;ENSP00000359752:D355E;ENSP00000378344:D355E;ENSP00000271029:D355E;ENSP00000337306:D355E|.	ENSP00000271029:D355E|.	D|M	+|+	3|2	2|0	LPHN2|LPHN2	82181908|82181908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.917000|0.917000	0.54804|0.54804	1.200000|1.200000	0.32247|0.32247	0.255000|0.255000	0.21593|0.21593	0.455000|0.455000	0.32223|0.32223	GAT|ATG		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		23	113	0	0	0	0.00333	0	23	113				
LPHN2	23266	broad.mit.edu	37	1	82432241	82432241	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:82432241C>T	ENST00000370728.1	+	15	2930	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.S687F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S762F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S762F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S749F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S762F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S762F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S749F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S762F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S762F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S749F			O95490	LPHN2_HUMAN	latrophilin 2	762					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.S749F(1)|p.S762F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATAAAGAGTCCAGCCGAGTA	0.383																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2245-2247)TCC>TTC		latrophilin 2 precursor							181.0	175.0	177.0					1																	82432241		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82432241C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2285C>T	1.37:g.82432241C>T	ENSP00000359763:p.Ser762Phe					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S749F|LPHN2_uc001div.2_Missense_Mutation_p.S749F|LPHN2_uc009wcd.2_Missense_Mutation_p.S749F|LPHN2_uc001diw.2_Missense_Mutation_p.S333F	p.S749F	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	12	2427	+			762			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2246C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.609389|4.609389	0.87258|0.87258	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.71222	.|-0.52;-0.55;-0.53;-0.47;-0.5;-0.45;-0.49;-0.5;-0.49;-0.49;-0.5;-0.45;-0.47;-0.53	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84566|0.84566	0.5500|0.5500	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.85130	.|0.99;0.988;0.997	D|D	0.84531|0.84531	0.0633|0.0633	5|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|749;749;749	.|O95490-3;O95490-4;O95490-2	.|.;.;.	S|F	630|687;762;762;762;762;749;749;749;749;749;762;749;762;762	.|ENSP00000359756:S687F;ENSP00000359763:S762F;ENSP00000359765:S762F;ENSP00000359762:S762F;ENSP00000359760:S762F;ENSP00000359758:S749F;ENSP00000353006:S749F;ENSP00000359750:S749F;ENSP00000359748:S749F;ENSP00000322270:S749F;ENSP00000359752:S762F;ENSP00000378344:S749F;ENSP00000271029:S762F;ENSP00000337306:S762F	.|ENSP00000271029:S762F	P|S	+|+	1|2	0|0	LPHN2|LPHN2	82204829|82204829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.089000|6.089000	0.71384|0.71384	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		6	250	0	0	0	0.001168	0	6	250				
SLC6A17	388662	broad.mit.edu	37	1	110735252	110735252	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:110735252A>G	ENST00000331565.4	+	8	1716	c.1231A>G	c.(1231-1233)Acc>Gcc	p.T411A	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	411					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.T411A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGTCATCATGACCGTGAAGGA	0.592																																							uc009wfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1231-1233)ACC>GCC		solute carrier family 6, member 17							148.0	113.0	125.0					1																	110735252		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110735252A>G		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1231A>G	1.37:g.110735252A>G	ENSP00000330199:p.Thr411Ala					SLC6A17_uc001dze.1_Missense_Mutation_p.T9A	p.T411A	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	8	1692	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	411			Extracellular (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1231A>G	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	A	7.683	0.689415	0.14973	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.73897	-0.79	5.41	4.27	0.50696	.	0.104418	0.64402	N	0.000005	T	0.29588	0.0738	N	0.05592	-0.015	0.41380	D	0.98754	B	0.09022	0.002	B	0.15052	0.012	T	0.19418	-1.0306	10	0.07644	T	0.81	.	10.514	0.44879	0.9204:0.0:0.0796:0.0	.	411	Q9H1V8	S6A17_HUMAN	A	411	ENSP00000330199:T411A	ENSP00000330199:T411A	T	+	1	0	SLC6A17	110536775	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.177000	0.77650	0.875000	0.35847	0.533000	0.62120	ACC		0.592	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		15	56	0	0	0	0.003163	0	15	56				
HIST2H2AC	8338	broad.mit.edu	37	1	149858806	149858806	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:149858806G>A	ENST00000331380.2	+	1	282	c.282G>A	c.(280-282)ctG>ctA	p.L94L	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	94						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L94L(2)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGAGGAACTGAACAAGCTGC	0.582																																							uc001etd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(280-282)CTG>CTA		histone cluster 2, H2ac							71.0	71.0	71.0					1																	149858806		2203	4298	6501	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858806G>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.282G>A	1.37:g.149858806G>A						HIST2H2BE_uc001etc.2_5'Flank	p.L94L	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	282	+	Breast(34;0.0124)|all_hematologic(923;0.127)		94					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.282G>A	CCDS937.1																																																																																				0.582	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		17	188	0	0	0	0.00278	0	17	188				
SV2A	9900	broad.mit.edu	37	1	149885007	149885007	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:149885007C>A	ENST00000369146.3	-	2	876	c.386G>T	c.(385-387)gGg>gTg	p.G129V	SV2A_ENST00000369145.1_Missense_Mutation_p.G129V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	129					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.G129V(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGACCCTCCCCATCACTCAA	0.657																																							uc001etg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(385-387)GGG>GTG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						66.0	74.0	71.0					1																	149885007		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885007C>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.386G>T	1.37:g.149885007C>A	ENSP00000358142:p.Gly129Val					SV2A_uc001eth.2_Missense_Mutation_p.G129V	p.G129V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	877	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		129			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.386G>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	9.248	1.040011	0.19669	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.67523	0.73;-0.27	5.07	4.14	0.48551	.	0.000000	0.53938	D	0.000042	T	0.27313	0.0670	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.10382	-1.0632	10	0.29301	T	0.29	-13.5383	11.9713	0.53065	0.3153:0.6847:0.0:0.0	.	129	Q7L0J3	SV2A_HUMAN	V	129	ENSP00000358142:G129V;ENSP00000358141:G129V	ENSP00000358141:G129V	G	-	2	0	SV2A	148151631	0.291000	0.24352	1.000000	0.80357	0.992000	0.81027	3.275000	0.51639	1.344000	0.45657	0.557000	0.71058	GGG		0.657	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			24	214	1	0	1.64293e-13	0.00333	1.89815e-13	24	214				
TARS2	80222	broad.mit.edu	37	1	150464139	150464139	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:150464139G>A	ENST00000369064.3	+	6	729		c.e6+1		TARS2_ENST00000606933.1_Splice_Site|TARS2_ENST00000438568.2_Splice_Site|TARS2_ENST00000463555.1_Splice_Site|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.?(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTATATGGGTAAGAGTTGT	0.418																																							uc001euq.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e6+1		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						105.0	97.0	100.0					1																	150464139		2203	4300	6503	SO:0001630	splice_region_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150464139G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.695+1G>A	1.37:g.150464139G>A						TARS2_uc010pcd.1_Splice_Site|TARS2_uc001eur.2_Splice_Site_p.G232_splice|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron	p.G232_splice	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	702	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)							Q53GW7|Q96I50|Q9H9V2	Splice_Site	SNP	ENST00000369064.3	37	c.695_splice	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299897	0.81136	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3015	0.82820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS2	148730763	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.053000	0.89449	2.834000	0.97654	0.558000	0.71614	.		0.418	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	Intron	51	237	0	0	0	0.01441	0	51	237				
S100A13	6284	broad.mit.edu	37	1	153598847	153598847	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:153598847G>A	ENST00000392623.1	-	2	292	c.102C>T	c.(100-102)agC>agT	p.S34S	RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000292169.1_5'Flank|S100A13_ENST00000339556.4_Silent_p.S34S|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000440685.2_Silent_p.S34S|S100A13_ENST00000392622.1_Silent_p.S34S|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000368699.1_Silent_p.S34S|S100A1_ENST00000368696.3_5'Flank	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	34	EF-hand.				cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.S34S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	ACTCGTTGACGCTGAGGCTAT	0.532																																					NSCLC(156;1296 1989 17590 30930 49554)	NSCLC(156;1296 1989 17590 30930 49554)	uc001fcf.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)AGC>AGT		S100 calcium binding protein A13	Amlexanox(DB01025)						214.0	202.0	206.0					1																	153598847		2203	4300	6503	SO:0001819	synonymous_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153598847G>A	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.102C>T	1.37:g.153598847G>A						S100A13_uc001fcg.2_Silent_p.S34S|S100A13_uc009woh.2_Silent_p.S34S|S100A13_uc001fch.2_Silent_p.S34S|S100A13_uc001fci.2_Silent_p.S34S|S100A13_uc001fcj.2_Silent_p.S34S|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	p.S34S	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	261	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		34			1.|EF-hand 1.		Q52PI9|Q6FGF8	Silent	SNP	ENST00000392623.1	37	c.102C>T	CCDS30874.1																																																																																				0.532	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		49	512	0	0	0	0.01441	0	49	512				
IL6R	3570	broad.mit.edu	37	1	154422396	154422396	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:154422396A>T	ENST00000368485.3	+	8	1443	c.1006A>T	c.(1006-1008)Act>Tct	p.T336S	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Missense_Mutation_p.T336S	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	336					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.T336S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GGCACTTACTACTAATAAAGA	0.458																																							uc001fez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1006-1008)ACT>TCT		interleukin 6 receptor isoform 1 precursor							124.0	124.0	124.0					1																	154422396		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154422396A>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1006A>T	1.37:g.154422396A>T	ENSP00000357470:p.Thr336Ser					IL6R_uc001ffa.1_Missense_Mutation_p.T336S	p.T336S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1443	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		336			Extracellular (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1006A>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	A	3.037	-0.198309	0.06219	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	T;T	0.19394	2.35;2.15	3.97	-3.56	0.04626	.	4.227820	0.00397	N	0.000043	T	0.05135	0.0137	L	0.57536	1.79	0.09310	N	1	B;B	0.25272	0.122;0.048	B;B	0.25291	0.059;0.02	T	0.20042	-1.0287	10	0.11182	T	0.66	-0.7227	2.2156	0.03959	0.2048:0.1672:0.4631:0.1648	.	336;336	P08887-2;P08887	.;IL6RA_HUMAN	S	336	ENSP00000357470:T336S;ENSP00000340589:T336S	ENSP00000340589:T336S	T	+	1	0	IL6R	152689020	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.065000	0.14466	-0.644000	0.05465	-0.605000	0.04089	ACT		0.458	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		30	196	0	0	0	0.008361	0	30	196				
ASH1L	55870	broad.mit.edu	37	1	155448829	155448829	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:155448829G>A	ENST00000368346.3	-	3	4471	c.3832C>T	c.(3832-3834)Cag>Tag	p.Q1278*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1278*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1278					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Q1278*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCGAAGCTGGGGATATTTC	0.378																																							uc009wqq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3832-3834)CAG>TAG		absent, small, or homeotic 1-like							129.0	139.0	136.0					1																	155448829		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448829G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3832C>T	1.37:g.155448829G>A	ENSP00000357330:p.Gln1278*					ASH1L_uc001fkt.2_Nonsense_Mutation_p.Q1278*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.Q1278*	p.Q1278*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4312	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1278					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.3832C>T		.	.	.	.	.	.	.	.	.	.	G	46	12.930115	0.99707	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.3033	0.90171	0.0:0.0:1.0:0.0	.	.	.	.	X	1278	.	ENSP00000357330:Q1278X	Q	-	1	0	ASH1L	153715453	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.657000	0.90304	0.591000	0.81541	CAG		0.378	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	321	0	0	0	0.001984	0	7	321				
FCRL5	83416	broad.mit.edu	37	1	157509129	157509129	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:157509129G>T	ENST00000361835.3	-	7	1306	c.1149C>A	c.(1147-1149)aaC>aaA	p.N383K	FCRL5_ENST00000356953.4_Missense_Mutation_p.N383K|FCRL5_ENST00000368191.3_Missense_Mutation_p.N298K|FCRL5_ENST00000368189.3_Missense_Mutation_p.N383K|FCRL5_ENST00000368190.3_Missense_Mutation_p.N383K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	383	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.N383K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGAGCTGAGGTTGAGGACAG	0.448																																							uc001fqu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1147-1149)AAC>AAA		Fc receptor-like 5							64.0	67.0	66.0					1																	157509129		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509129G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1149C>A	1.37:g.157509129G>T	ENSP00000354691:p.Asn383Lys					FCRL5_uc009wsm.2_Missense_Mutation_p.N383K|FCRL5_uc010phv.1_Missense_Mutation_p.N383K|FCRL5_uc010phw.1_Missense_Mutation_p.N298K|FCRL5_uc001fqv.1_Missense_Mutation_p.N383K|FCRL5_uc010phx.1_Missense_Mutation_p.N134K	p.N383K	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			7	1307	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	383			Extracellular (Potential).|Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1149C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333907	0.24253	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	3.04	3.04	0.35103	Immunoglobulin-like (1);	1.773450	0.03721	N	0.251932	T	0.01695	0.0054	N	0.02181	-0.65	0.30661	N	0.754416	B;B;B;B;B;B	0.26147	0.004;0.002;0.001;0.012;0.143;0.023	B;B;B;B;B;B	0.25614	0.006;0.006;0.001;0.003;0.062;0.006	T	0.29761	-1.0001	10	0.12103	T	0.63	.	9.6886	0.40114	0.0:0.0:1.0:0.0	.	414;298;383;383;383;383	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	383;383;383;298;383	ENSP00000354691:N383K;ENSP00000349434:N383K;ENSP00000357173:N383K;ENSP00000357174:N298K;ENSP00000357172:N383K	ENSP00000349434:N383K	N	-	3	2	FCRL5	155775753	0.229000	0.23729	0.023000	0.16930	0.002000	0.02628	0.321000	0.19558	1.715000	0.51383	0.313000	0.20887	AAC		0.448	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		13	76	1	0	5.50884e-06	0.013537	5.88819e-06	13	76				
SPTA1	6708	broad.mit.edu	37	1	158584068	158584068	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:158584068G>A	ENST00000368147.4	-	49	6997	c.6817C>T	c.(6817-6819)Cta>Tta	p.L2273L	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2273	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L2273L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATTCCTTTAGAGTCTCTTCA	0.328																																							uc001fst.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6817-6819)CTA>TTA		spectrin, alpha, erythrocytic 1							79.0	77.0	78.0					1																	158584068		1805	4068	5873	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158584068G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6817C>T	1.37:g.158584068G>A							p.L2273L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			49	7016	-	all_hematologic(112;0.0378)		2273			EF-hand 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6817C>T	CCDS41423.1																																																																																				0.328	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		13	72	0	0	0	0.003163	0	13	72				
SPTA1	6708	broad.mit.edu	37	1	158596650	158596650	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:158596650C>T	ENST00000368147.4	-	41	5992	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1938					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1938N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACCACATCAGCCTTCCAG	0.468																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5812-5814)GAT>AAT		spectrin, alpha, erythrocytic 1							146.0	145.0	145.0					1																	158596650		1879	4115	5994	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596650C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5812G>A	1.37:g.158596650C>T	ENSP00000357129:p.Asp1938Asn						p.D1938N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	6011	-	all_hematologic(112;0.0378)		1938			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5812G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328869	0.95733	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36878	1.23;1.23	5.41	5.41	0.78517	.	0.000000	0.33346	N	0.005006	T	0.59432	0.2193	M	0.82323	2.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.63305	-0.6667	10	0.72032	D	0.01	.	17.9494	0.89047	0.0:1.0:0.0:0.0	.	1938	P02549	SPTA1_HUMAN	N	1938;1935	ENSP00000357130:D1938N;ENSP00000357129:D1935N	ENSP00000357129:D1935N	D	-	1	0	SPTA1	156863274	1.000000	0.71417	0.968000	0.41197	0.956000	0.61745	7.089000	0.76909	2.816000	0.96949	0.563000	0.77884	GAT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	144	0	0	0	0.009096	0	4	144				
ATF6	22926	broad.mit.edu	37	1	161833091	161833091	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:161833091T>G	ENST00000367942.3	+	14	1775	c.1708T>G	c.(1708-1710)Tca>Gca	p.S570A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	570	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S570A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TTATGTTGTGTCATTTCGAAG	0.393																																							uc001gbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1708-1710)TCA>GCA		activating transcription factor 6							113.0	105.0	108.0					1																	161833091		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161833091T>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1708T>G	1.37:g.161833091T>G	ENSP00000356919:p.Ser570Ala					ATF6_uc001gbq.1_Missense_Mutation_p.S570A	p.S570A	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		14	1775	+	all_hematologic(112;0.156)		570			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1708T>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791186	0.90367	.	.	ENSG00000118217	ENST00000367942	T	0.20463	2.07	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	M	0.75085	2.285	0.44745	D	0.997742	D;D	0.69078	0.997;0.994	P;D	0.70716	0.904;0.97	T	0.20638	-1.0269	9	0.40728	T	0.16	-14.6172	14.0437	0.64693	0.0:0.0:0.0:1.0	.	570;571	P18850;Q59H30	ATF6A_HUMAN;.	A	570	ENSP00000356919:S570A	ENSP00000356919:S570A	S	+	1	0	ATF6	160099715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.970000	0.70431	2.186000	0.69663	0.533000	0.62120	TCA		0.393	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	98	0	0	0	0.009096	0	4	98				
TNR	7143	broad.mit.edu	37	1	175360440	175360440	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:175360440C>A	ENST00000367674.2	-	7	2199	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	TNR_ENST00000263525.2_Silent_p.S497S			Q92752	TENR_HUMAN	tenascin R	497	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S497S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGACGCTGGCCGAGGTAGGGG	0.547																																							uc001gkp.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1489-1491)TCG>TCT		tenascin R precursor							64.0	68.0	67.0					1																	175360440		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360440C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1491G>T	1.37:g.175360440C>A						TNR_uc009wwu.1_Silent_p.S497S	p.S497S	NM_003285	NP_003276	Q92752	TENR_HUMAN			5	1572	-	Renal(580;0.146)		497			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1491G>T	CCDS1318.1																																																																																				0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		45	76	1	0	7.89702e-26	0.01441	9.72151e-26	45	76				
TDRD5	163589	broad.mit.edu	37	1	179631407	179631407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:179631407G>C	ENST00000367614.1	+	14	2688	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	TDRD5_ENST00000294848.8_Missense_Mutation_p.E777Q|TDRD5_ENST00000444136.1_Missense_Mutation_p.E831Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	777					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.E777Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCATGTAAAGAAATGCCACA	0.473																																							uc001gnf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2329-2331)GAA>CAA		tudor domain containing 5							72.0	68.0	70.0					1																	179631407		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179631407G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2329G>C	1.37:g.179631407G>C	ENSP00000356586:p.Glu777Gln					TDRD5_uc010pnp.1_Missense_Mutation_p.E831Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E332Q	p.E777Q	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			14	2579	+			777					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2329G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725812	0.48833	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.37235	2.23;2.23;2.63;1.21	5.15	3.12	0.35913	.	0.919358	0.09267	N	0.825710	T	0.46210	0.1381	M	0.64997	1.995	0.09310	N	0.999995	D;P	0.61080	0.989;0.813	P;B	0.52957	0.714;0.261	T	0.26121	-1.0112	10	0.52906	T	0.07	-26.7813	8.0685	0.30676	0.0:0.1746:0.6447:0.1807	.	831;777	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	777;777;831;287	ENSP00000356586:E777Q;ENSP00000294848:E777Q;ENSP00000406052:E831Q;ENSP00000410744:E287Q	ENSP00000294848:E777Q	E	+	1	0	TDRD5	177898030	1.000000	0.71417	0.810000	0.32431	0.748000	0.42578	2.926000	0.48892	1.282000	0.44496	0.650000	0.86243	GAA		0.473	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		3	92	0	0	0	0.004672	0	3	92				
COLGALT2	23127	broad.mit.edu	37	1	183908081	183908081	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:183908081C>A	ENST00000361927.4	-	12	2066	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.Q173H|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Q302H|COLGALT2_ENST00000486375.1_Intron	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	565					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.Q565H(1)									GGTACCCCGGCTGGCCTGTGT	0.542																																						Esophageal Squamous(10;42 606 18489 38825)	uc001gqr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1693-1695)CAG>CAT		glycosyltransferase 25 domain containing 2							135.0	125.0	129.0					1																	183908081		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183908081C>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1695G>T	1.37:g.183908081C>A	ENSP00000354960:p.Gln565His					GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.Q173H|GLT25D2_uc001gqq.2_Missense_Mutation_p.Q302H|GLT25D2_uc001gqs.2_Missense_Mutation_p.Q445H	p.Q565H	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			12	2067	-			565					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1695G>T	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069042	0.76301	.	.	ENSG00000198756	ENST00000361927;ENST00000367521;ENST00000367520	T	0.78126	-1.15	5.21	4.28	0.50868	.	0.056167	0.64402	D	0.000001	T	0.78566	0.4303	L	0.59436	1.845	0.80722	D	1	D;D	0.57571	0.978;0.98	P;P	0.50791	0.65;0.629	T	0.80881	-0.1184	10	0.87932	D	0	.	10.4771	0.44672	0.0:0.8491:0.0:0.1509	.	565;302	Q8IYK4;Q5SXQ3	GT252_HUMAN;.	H	565;173;302	ENSP00000354960:Q565H	ENSP00000354960:Q565H	Q	-	3	2	GLT25D2	182174704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.814000	0.27239	2.411000	0.81874	0.563000	0.77884	CAG		0.542	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		51	138	1	0	5.82388e-19	0.01441	6.9536e-19	51	138				
PLEKHA6	22874	broad.mit.edu	37	1	204228701	204228702	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:204228701_204228702TC>AA	ENST00000272203.3	-	8	1007_1008	c.691_692GA>TT	c.(691-693)GAg>TTg	p.E231L	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E251L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	231	Pro-rich.							p.E231L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CACCGGAGGCTCTTTCTTGACT	0.649																																							uc001hau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(691-693)GAG>TTG		phosphoinositol 3-phosphate-binding protein-3																																				SO:0001583	missense	22874							g.chr1:204228701_204228702TC>AA	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.691_692delinsAA	1.37:g.204228701_204228702delinsAA	ENSP00000272203:p.Glu231Leu					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.E231L	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1008_1009	-	all_cancers(21;0.0222)|Breast(84;0.179)		231			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	DNP	ENST00000272203.3	37	c.691_692GA>TT	CCDS1444.1																																																																																				0.649	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		22	114	0	0	0	0.004672	0	22	114				
NUCKS1	64710	broad.mit.edu	37	1	205689671	205689671	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:205689671C>T	ENST00000367142.4	-	5	642	c.340G>A	c.(340-342)Gag>Aag	p.E114K	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E114K(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGTTCTTCCTCACTGCCCACA	0.433																																							uc001hdb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GAG>AAG		nuclear casein kinase and cyclin-dependent							274.0	223.0	241.0					1																	205689671		2203	4300	6503	SO:0001583	missense	64710					nucleus		g.chr1:205689671C>T		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.340G>A	1.37:g.205689671C>T	ENSP00000356110:p.Glu114Lys						p.E114K	NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	600	-	Breast(84;0.07)		114					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	c.340G>A	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427739	0.96131	.	.	ENSG00000069275	ENST00000367142;ENST00000264531	T	0.25085	1.82	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.65975	2.015	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.49624	-0.8920	10	0.62326	D	0.03	-12.419	18.8371	0.92167	0.0:1.0:0.0:0.0	.	114	Q9H1E3	NUCKS_HUMAN	K	114;94	ENSP00000356110:E114K	ENSP00000264531:E94K	E	-	1	0	NUCKS1	203956294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.205000	0.77881	2.621000	0.88768	0.650000	0.86243	GAG		0.433	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		13	150	0	0	0	0.001855	0	13	150				
RAB29	8934	broad.mit.edu	37	1	205740776	205740776	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:205740776C>G	ENST00000367139.3	-	4	505	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E68Q|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E68Q|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E44Q	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		68					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E68Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGAAGCGCTCCTGCCCTGGG	0.522																																					Pancreas(25;658 872 27763 34889 38531)	Pancreas(25;658 872 27763 34889 38531)	uc001hdf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)GAG>CAG		RAB7, member RAS oncogene family-like 1 isoform							102.0	92.0	96.0					1																	205740776		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205740776C>G																												ENST00000367139.3:c.202G>C	1.37:g.205740776C>G	ENSP00000356107:p.Glu68Gln					RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.E68Q|RAB7L1_uc010prr.1_Missense_Mutation_p.E44Q|RAB7L1_uc009xbq.2_Intron	p.E68Q	NM_003929	NP_003920	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		4	542	-	Breast(84;0.0799)		68					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.202G>C	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075954	0.76415	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000446390;ENST00000414729	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.28	5.28	0.74379	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.91663	3.23	0.44515	D	0.997466	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.94345	0.7574	10	0.87932	D	0	-6.9509	16.679	0.85287	0.0:1.0:0.0:0.0	.	44;68	B4E1K3;O14966	.;RAB7L_HUMAN	Q	68;68;44;68	ENSP00000356107:E68Q;ENSP00000235932:E68Q;ENSP00000389899:E44Q;ENSP00000402910:E68Q	ENSP00000235932:E68Q	E	-	1	0	RAB7L1	204007399	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.262000	0.78410	2.452000	0.82932	0.313000	0.20887	GAG		0.522	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			45	134	0	0	0	0.011902	0	45	134				
CR1	1378	broad.mit.edu	37	1	207751391	207751391	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:207751391G>T	ENST00000367049.4	+	29	4779	c.4779G>T	c.(4777-4779)gtG>gtT	p.V1593V	CR1_ENST00000367051.1_Silent_p.V1143V|CR1_ENST00000367053.1_Silent_p.V1143V|CR1_ENST00000367052.1_Silent_p.V1143V|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.V1143V|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1143	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCCAAATGTGGAAAATGGAA	0.483																																							uc001hfy.2		NA																	0				ovary(3)	3						c.(3427-3429)GTG>GTT		complement receptor 1 isoform F precursor							61.0	62.0	62.0					1																	207751391		1783	4034	5817	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751391G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4779G>T	1.37:g.207751391G>T						CR1_uc009xcl.1_Silent_p.V693V|CR1_uc001hfx.2_Silent_p.V1593V	p.V1143V	NM_000573	NP_000564	P17927	CR1_HUMAN			21	3569	+			1143			Extracellular (Potential).|Sushi 18.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.3429G>T	CCDS44308.1																																																																																				0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		20	162	1	0	6.53348e-20	0.003755	7.85337e-20	20	162				
USH2A	7399	broad.mit.edu	37	1	215848937	215848937	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:215848937C>T	ENST00000307340.3	-	63	12702	c.12316G>A	c.(12316-12318)Ggg>Agg	p.G4106R	USH2A_ENST00000366943.2_Missense_Mutation_p.G4106R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4106	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G4106R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAGGAACCCGTCACTGAAG	0.473										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12316-12318)GGG>AGG		usherin isoform B							68.0	64.0	66.0					1																	215848937		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848937C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12316G>A	1.37:g.215848937C>T	ENSP00000305941:p.Gly4106Arg	HNSCC(13;0.011)					p.G4106R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12703	-			4106			Fibronectin type-III 26.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12316G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634952	0.47049	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.11	5.11	0.69529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.310402	0.22843	N	0.054944	T	0.58278	0.2111	L	0.60455	1.87	0.23559	N	0.997413	D	0.63046	0.992	P	0.53954	0.738	T	0.52109	-0.8619	10	0.19147	T	0.46	.	12.9295	0.58278	0.0:0.9221:0.0:0.0779	.	4106	O75445	USH2A_HUMAN	R	4106	ENSP00000305941:G4106R;ENSP00000355910:G4106R	ENSP00000305941:G4106R	G	-	1	0	USH2A	213915560	0.137000	0.22531	0.023000	0.16930	0.212000	0.24457	2.995000	0.49441	2.384000	0.81235	0.555000	0.69702	GGG		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	72	0	0	0	0.006214	0	9	72				
CDC42BPA	8476	broad.mit.edu	37	1	227441855	227441855	+	Splice_Site	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:227441855A>G	ENST00000366769.3	-	2	1471	c.180T>C	c.(178-180)gcT>gcC	p.A60A	CDC42BPA_ENST00000366766.2_Splice_Site_p.A60A|CDC42BPA_ENST00000334218.5_Splice_Site_p.A60A|CDC42BPA_ENST00000366765.3_Splice_Site_p.A60A|CDC42BPA_ENST00000366767.3_Splice_Site_p.A60A|CDC42BPA_ENST00000366764.2_Splice_Site_p.A60A|CDC42BPA_ENST00000535525.1_Splice_Site_p.A60A	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.A60A(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAAATGGTTTAGCTGAAATGA	0.284																																							uc001hqr.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(178-180)GCT>GCC		CDC42-binding protein kinase alpha isoform B							82.0	81.0	81.0					1																	227441855		2203	4298	6501	SO:0001630	splice_region_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227441855A>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.179-1T>C	1.37:g.227441855A>G						CDC42BPA_uc001hqs.2_Silent_p.A60A|CDC42BPA_uc009xes.2_Silent_p.A60A|CDC42BPA_uc010pvs.1_Silent_p.A60A	p.A60A	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			2	1123	-		all_cancers(173;0.156)|Prostate(94;0.0792)	60						Silent	SNP	ENST00000366769.3	37	c.180T>C	CCDS1558.1																																																																																				0.284	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	Silent	7	54	0	0	0	0.004482	0	7	54				
KIAA1804	84451	broad.mit.edu	37	1	233514864	233514864	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:233514864G>T	ENST00000366624.3	+	9	2373	c.2112G>T	c.(2110-2112)atG>atT	p.M704I	MLK4_ENST00000366622.1_Missense_Mutation_p.M150I	NM_032435.2	NP_115811.2												p.M704I(1)									CCATTGAGATGACTCCTACGA	0.537																																							uc001hvt.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(2110-2112)ATG>ATT		mixed lineage kinase 4							65.0	71.0	69.0					1																	233514864		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233514864G>T																												ENST00000366624.3:c.2112G>T	1.37:g.233514864G>T	ENSP00000355583:p.Met704Ile					KIAA1804_uc001hvu.3_Missense_Mutation_p.M150I	p.M704I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			9	2373	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	704						Missense_Mutation	SNP	ENST00000366624.3	37	c.2112G>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	3.461	-0.110054	0.06924	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.27890	1.64;1.64	4.55	3.64	0.41730	.	1.780140	0.02778	N	0.120549	T	0.19087	0.0458	N	0.08118	0	0.20307	N	0.999916	B;B	0.13594	0.003;0.008	B;B	0.11329	0.003;0.006	T	0.17137	-1.0379	10	0.26408	T	0.33	.	7.7855	0.29089	0.0824:0.0:0.7573:0.1603	.	151;704	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	I	704;150	ENSP00000355583:M704I;ENSP00000355581:M150I	ENSP00000355581:M150I	M	+	3	0	RP5-862P8.2	231581487	1.000000	0.71417	0.057000	0.19452	0.008000	0.06430	1.126000	0.31344	1.142000	0.42291	0.650000	0.86243	ATG		0.537	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			16	76	1	0	4.7796e-09	0.004656	5.23411e-09	16	76				
RYR2	6262	broad.mit.edu	37	1	237774276	237774276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:237774276C>A	ENST00000366574.2	+	36	5215	c.4898C>A	c.(4897-4899)cCt>cAt	p.P1633H	RYR2_ENST00000360064.6_Missense_Mutation_p.P1631H|RYR2_ENST00000542537.1_Missense_Mutation_p.P1617H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1633	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.P1631H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCATATCCCTGAGGAAAAC	0.542																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4897-4899)CCT>CAT		cardiac muscle ryanodine receptor							55.0	53.0	54.0					1																	237774276		1958	4147	6105	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774276C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4898C>A	1.37:g.237774276C>A	ENSP00000355533:p.Pro1633His						p.P1633H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5018	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1633			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4898C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663528	0.88251	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98381	-4.9;-4.88;-4.89	5.25	5.25	0.73442	.	0.088079	0.44688	D	0.000425	D	0.98975	0.9651	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.99731	1.1012	10	0.87932	D	0	.	19.0434	0.93011	0.0:1.0:0.0:0.0	.	1633	Q92736	RYR2_HUMAN	H	1633;1631;1617	ENSP00000355533:P1633H;ENSP00000353174:P1631H;ENSP00000443798:P1617H	ENSP00000353174:P1631H	P	+	2	0	RYR2	235840899	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.604000	0.82830	2.717000	0.92951	0.655000	0.94253	CCT		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	30	1	0	7.41877e-09	0.012319	8.09939e-09	20	30				
CHRM3	1131	broad.mit.edu	37	1	240071333	240071333	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:240071333C>A	ENST00000255380.4	+	5	1361	c.582C>A	c.(580-582)gtC>gtA	p.V194V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	194					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.V194V(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGCTTGGGTCATCTCCTTTG	0.507																																							uc001hyp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(580-582)GTC>GTA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						195.0	202.0	200.0					1																	240071333		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071333C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.582C>A	1.37:g.240071333C>A							p.V194V	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1361	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	194			Helical; Name=4; (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.582C>A	CCDS1616.1																																																																																				0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	698	1	0	1.76689e-08	0.006214	1.91727e-08	8	698				
ZNF669	79862	broad.mit.edu	37	1	247265290	247265290	+	Splice_Site	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:247265290T>C	ENST00000343381.6	-	2	559	c.387A>G	c.(385-387)gtA>gtG	p.V129V	ZNF669_ENST00000448299.2_Splice_Site_p.V43V|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000366500.1_Splice_Site_p.V43V|ZNF669_ENST00000358785.4_Splice_Site_p.V129V	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	129	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V129V(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATTCTTACCTACAGAAGCCA	0.408																																							uc001ice.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)GTA>GTG		zinc finger protein 669 isoform 1							97.0	94.0	95.0					1																	247265290		2203	4300	6503	SO:0001630	splice_region_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247265290T>C		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.388+1A>G	1.37:g.247265290T>C						ZNF669_uc001icf.2_Silent_p.V43V	p.V129V	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		2	560	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		129			KRAB.		B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.387A>G	CCDS31088.1																																																																																				0.408	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804	Silent	62	65	0	0	0	0.01441	0	62	65				
OR2C3	81472	broad.mit.edu	37	1	247695011	247695011	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:247695011G>C	ENST00000366487.3	-	2	1164	c.803C>G	c.(802-804)tCc>tGc	p.S268C	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S267C(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGCTCATGGGAGGTGCTCTT	0.532																																							uc009xgy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(802-804)TCC>TGC		olfactory receptor, family 2, subfamily C,							118.0	102.0	108.0					1																	247695011		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695011G>C	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.803C>G	1.37:g.247695011G>C	ENSP00000355443:p.Ser268Cys					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.S268C	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1165	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	268			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.803C>G	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	9.457	1.092119	0.20471	.	.	ENSG00000196242	ENST00000366487	T	0.00279	8.33	3.91	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34932	U	0.003578	T	0.00637	0.0021	H	0.94698	3.57	0.09310	N	1	D	0.63046	0.992	P	0.57371	0.819	T	0.32955	-0.9887	10	0.72032	D	0.01	.	5.8418	0.18637	0.108:0.1944:0.6976:0.0	.	268	Q8N628	OR2C3_HUMAN	C	268	ENSP00000355443:S268C	ENSP00000355443:S268C	S	-	2	0	OR2C3	245761634	0.001000	0.12720	0.243000	0.24186	0.263000	0.26337	1.025000	0.30090	0.968000	0.38212	0.655000	0.94253	TCC		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		7	107	0	0	0	0.006214	0	7	107				
ITIH2	3698	broad.mit.edu	37	10	7755192	7755192	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:7755192G>A	ENST00000358415.4	+	5	577	c.411G>A	c.(409-411)gtG>gtA	p.V137V	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Silent_p.V126V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	137	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V137V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAAAACTGTGGGCCGAGCTC	0.478																																							uc001ijs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(409-411)GTG>GTA		inter-alpha globulin inhibitor H2 polypeptide							70.0	72.0	72.0					10																	7755192		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7755192G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.411G>A	10.37:g.7755192G>A							p.V137V	NM_002216	NP_002207	P19823	ITIH2_HUMAN			5	573	+			137			VIT.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.411G>A	CCDS31141.1																																																																																				0.478	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		27	80	0	0	0	0.00632	0	27	80				
ACBD5	91452	broad.mit.edu	37	10	27512279	27512279	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:27512279C>T	ENST00000375888.1	-	4	536	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ACBD5_ENST00000375901.1_Missense_Mutation_p.D51N|ACBD5_ENST00000375905.4_Missense_Mutation_p.D125N|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.D51N|ACBD5_ENST00000396271.3_Missense_Mutation_p.D160N			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	158					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.D125N(1)|p.D160N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGGTTATATCAGAACTCCTG	0.313																																							uc010qdp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(478-480)GAT>AAT		acyl-Coenzyme A binding domain containing 5							89.0	84.0	85.0					10																	27512279		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27512279C>T	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.472G>A	10.37:g.27512279C>T	ENSP00000365049:p.Asp158Asn					ACBD5_uc010qdm.1_Missense_Mutation_p.D158N|ACBD5_uc010qdn.1_Missense_Mutation_p.D51N|ACBD5_uc010qdo.1_Missense_Mutation_p.D51N|ACBD5_uc001ito.2_Missense_Mutation_p.D125N|ACBD5_uc001itp.2_Missense_Mutation_p.D51N|ACBD5_uc001itq.2_Missense_Mutation_p.D51N|ACBD5_uc001itr.1_5'UTR	p.D160N	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			5	669	-			158					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.478G>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.237533	0.79800	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888;ENST00000426079;ENST00000412279	D;T;T;T;T;T;T	0.83591	-1.74;2.13;1.31;1.37;2.36;2.06;1.81	5.73	4.83	0.62350	.	0.268410	0.47852	N	0.000213	D	0.85885	0.5801	L	0.59436	1.845	0.35549	D	0.803731	D;P;D	0.56287	0.971;0.873;0.975	P;B;P	0.57846	0.828;0.426;0.776	D	0.85269	0.1055	10	0.19147	T	0.46	-17.537	14.1677	0.65488	0.0:0.9285:0.0:0.0715	.	160;51;158	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	N	155;160;125;51;51;158;167;125	ENSP00000379568:D160N;ENSP00000365070:D125N;ENSP00000365066:D51N;ENSP00000365062:D51N;ENSP00000365049:D158N;ENSP00000401591:D167N;ENSP00000393398:D125N	ENSP00000365049:D158N	D	-	1	0	ACBD5	27552285	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.251000	0.51453	2.712000	0.92718	0.557000	0.71058	GAT		0.313	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		4	90	0	0	0	0.009096	0	4	90				
WAC	51322	broad.mit.edu	37	10	28905133	28905133	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:28905133C>T	ENST00000354911.4	+	12	1749	c.1588C>T	c.(1588-1590)Cat>Tat	p.H530Y	WAC_ENST00000347934.4_Missense_Mutation_p.H427Y|WAC_ENST00000375646.1_Missense_Mutation_p.H378Y|WAC_ENST00000375664.4_Missense_Mutation_p.H485Y	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	530					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.H530Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGGTCCCAATCATACTTCTAA	0.408																																							uc001iuf.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1588-1590)CAT>TAT		WW domain-containing adapter with a coiled-coil							138.0	129.0	132.0					10																	28905133		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28905133C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1588C>T	10.37:g.28905133C>T	ENSP00000346986:p.His530Tyr					WAC_uc001iud.2_Missense_Mutation_p.H485Y|WAC_uc001iue.2_Missense_Mutation_p.H220Y|WAC_uc001iug.2_Missense_Mutation_p.H427Y|WAC_uc001iuh.2_Missense_Mutation_p.H481Y	p.H530Y	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			12	1673	+			530					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1588C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276086	0.59649	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.27053	0.805	0.80722	D	1	D;D;D	0.61080	0.989;0.962;0.981	D;D;D	0.72982	0.979;0.946;0.954	T	0.20338	-1.0278	10	0.06365	T	0.9	-12.5182	19.7866	0.96442	0.0:1.0:0.0:0.0	.	485;427;530	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Y	485;378;427;530	ENSP00000364816:H485Y;ENSP00000364797:H378Y;ENSP00000311106:H427Y;ENSP00000346986:H530Y	ENSP00000311106:H427Y	H	+	1	0	WAC	28945139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.756000	0.94617	0.655000	0.94253	CAT		0.408	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		17	170	0	0	0	0.007413	0	17	170				
C10orf25	220979	broad.mit.edu	37	10	45496131	45496131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:45496131G>T	ENST00000298298.1	-	1	205	c.177C>A	c.(175-177)taC>taA	p.Y59*	CEP164P1_ENST00000456938.2_RNA|ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	59						extracellular region (GO:0005576)		p.Y59*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						TTTGTGGAAAGTATGCAGTTT	0.473																																							uc001jbv.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(175-177)TAC>TAA		hypothetical protein LOC220979 precursor							75.0	77.0	77.0					10																	45496131		2203	4300	6503	SO:0001587	stop_gained	220979					extracellular region		g.chr10:45496131G>T	AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.177C>A	10.37:g.45496131G>T	ENSP00000298298:p.Tyr59*					C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	p.Y59*	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN			1	206	-			59					A1L424|Q96NM5	Nonsense_Mutation	SNP	ENST00000298298.1	37	c.177C>A	CCDS31187.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531179	0.27387	.	.	ENSG00000165511	ENST00000298298	.	.	.	1.85	-3.01	0.05463	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999927	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.7147	0.05184	0.4649:0.0:0.3189:0.2161	.	.	.	.	X	59	.	ENSP00000298298:Y59X	Y	-	3	2	C10orf25	44816137	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.401000	0.07232	-0.921000	0.03794	-1.119000	0.02030	TAC		0.473	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047763.1	NM_145022		12	55	1	0	6.72482e-11	0.003163	7.54957e-11	12	55				
LRRTM3	347731	broad.mit.edu	37	10	68686790	68686790	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:68686790G>A	ENST00000361320.4	+	2	694	c.116G>A	c.(115-117)aGg>aAg	p.R39K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	39	LRRNT.				positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R39K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAGGGCTGTAGGTGTGAAGGC	0.463																																							uc001jmz.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(115-117)AGG>AAG		leucine rich repeat transmembrane neuronal 3							118.0	115.0	116.0					10																	68686790		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686790G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.116G>A	10.37:g.68686790G>A	ENSP00000355187:p.Arg39Lys					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R39K	p.R39K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	666	+			39			Extracellular (Potential).|LRRNT.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.116G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136434	0.56936	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	D	0.95885	-3.84	5.23	5.23	0.72850	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	L	0.48642	1.525	0.48341	D	0.999634	D;D	0.69078	0.994;0.997	D;D	0.71414	0.973;0.971	D	0.97051	0.9764	10	0.66056	D	0.02	.	17.9434	0.89032	0.0:0.0:1.0:0.0	.	39;39	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	39	ENSP00000355187:R39K	ENSP00000355187:R39K	R	+	2	0	LRRTM3	68356796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.009000	0.88606	2.613000	0.88420	0.655000	0.94253	AGG		0.463	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		9	84	0	0	0	0.006214	0	9	84				
PPP3CB	5532	broad.mit.edu	37	10	75198098	75198098	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:75198098G>A	ENST00000360663.5	-	14	1588	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	PPP3CB_ENST00000544628.1_Missense_Mutation_p.P121S|PPP3CB_ENST00000394828.2_Missense_Mutation_p.P484S|PPP3CB_ENST00000394829.2_Missense_Mutation_p.P494S			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	493	Inhibitory domain.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.P165S(1)|p.P493S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTCCGAGGTGGCATTCTCTCA	0.463																																							uc001jue.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1477-1479)CCA>TCA		protein phosphatase 3, catalytic subunit, beta							185.0	160.0	169.0					10																	75198098		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75198098G>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1477C>T	10.37:g.75198098G>A	ENSP00000353881:p.Pro493Ser					PPP3CB_uc001juf.2_Missense_Mutation_p.P494S|PPP3CB_uc001jug.2_Missense_Mutation_p.P484S|PPP3CB_uc010qkj.1_Missense_Mutation_p.P121S	p.P493S	NM_021132	NP_066955	P16298	PP2BB_HUMAN			14	1612	-	Prostate(51;0.0119)		493			Inhibitory domain.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1477C>T	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619230	0.66787	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.32793	0.0841	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.998;0.993;1.0	T	0.13656	-1.0501	10	0.87932	D	0	.	19.5197	0.95180	0.0:0.0:1.0:0.0	.	483;494;493	P16298-3;Q8N1F0;P16298	.;.;PP2BB_HUMAN	S	493;494;484;165;121;155	ENSP00000353881:P493S;ENSP00000378306:P494S;ENSP00000378305:P484S;ENSP00000437596:P121S	ENSP00000353881:P493S	P	-	1	0	PPP3CB	74868104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.589000	0.98235	2.614000	0.88457	0.563000	0.77884	CCA		0.463	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		4	147	0	0	0	0.009096	0	4	147				
DYDC2	84332	broad.mit.edu	37	10	82126613	82126613	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:82126613A>T	ENST00000372199.1	+	6	1038	c.440A>T	c.(439-441)cAg>cTg	p.Q147L	DYDC2_ENST00000444807.2_Missense_Mutation_p.Q147L|DYDC2_ENST00000256039.2_Missense_Mutation_p.Q147L|DYDC2_ENST00000372198.1_Missense_Mutation_p.Q161L|DYDC2_ENST00000372197.1_Missense_Mutation_p.Q147L			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	147								p.Q147L(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CAGATTGACCAGAACTTCAAA	0.458																																							uc001kca.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CAG>CTG		DPY30 domain containing 2							117.0	123.0	121.0					10																	82126613		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82126613A>T	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.440A>T	10.37:g.82126613A>T	ENSP00000361273:p.Gln147Leu					DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.Q147L	p.Q147L	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		5	820	+			147					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.440A>T	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	A	3.299	-0.143187	0.06669	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000256039	T;T;T;T;T	0.55588	0.56;0.51;0.56;0.56;0.56	4.09	-2.08	0.07254	.	4.264560	0.00166	N	0.000010	T	0.25082	0.0609	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.02654	T	1	9.4126	2.7624	0.05311	0.3624:0.0:0.303:0.3347	.	147	Q96IM9	DYDC2_HUMAN	L	147;161;147;147;147	ENSP00000361273:Q147L;ENSP00000361272:Q161L;ENSP00000361271:Q147L;ENSP00000410285:Q147L;ENSP00000256039:Q147L	ENSP00000256039:Q147L	Q	+	2	0	DYDC2	82116593	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.060000	0.03475	-0.352000	0.08237	-0.146000	0.13790	CAG		0.458	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		60	155	0	0	0	0.01441	0	60	155				
RNLS	55328	broad.mit.edu	37	10	90332672	90332672	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:90332672C>A	ENST00000331772.4	-	4	536	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	RNLS_ENST00000437752.1_Missense_Mutation_p.D89Y|RNLS_ENST00000371947.3_Missense_Mutation_p.D172Y|RNLS_ENST00000466945.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	172					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.D172Y(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGTGATGTCACCTTGAAGC	0.438																																							uc001kfe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)GAC>TAC		renalase isoform 1							150.0	129.0	136.0					10																	90332672		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90332672C>A	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.514G>T	10.37:g.90332672C>A	ENSP00000332530:p.Asp172Tyr					RNLS_uc010qms.1_Missense_Mutation_p.D89Y|RNLS_uc001kfd.2_Missense_Mutation_p.D172Y	p.D172Y	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN			4	649	-			172					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.514G>T	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553079	0.86127	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	T;T;T	0.48201	2.97;0.86;0.82	5.87	5.87	0.94306	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;P;P	0.91635	0.999;0.85;0.767	T	0.71104	-0.4689	10	0.59425	D	0.04	.	18.9748	0.92731	0.0:1.0:0.0:0.0	.	89;172;172	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	Y	172;89;172	ENSP00000361015:D172Y;ENSP00000387577:D89Y;ENSP00000332530:D172Y	ENSP00000332530:D172Y	D	-	1	0	RNLS	90322652	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	4.238000	0.58688	2.779000	0.95612	0.655000	0.94253	GAC		0.438	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		10	61	1	0	1.61879e-10	0.013537	1.80596e-10	10	61				
SORBS1	10580	broad.mit.edu	37	10	97174268	97174268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:97174268C>A	ENST00000361941.3	-	7	819	c.793G>T	c.(793-795)Gga>Tga	p.G265*	SORBS1_ENST00000371246.2_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371227.4_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Nonsense_Mutation_p.G256*|SORBS1_ENST00000354106.3_Nonsense_Mutation_p.G256*|SORBS1_ENST00000371247.2_Nonsense_Mutation_p.G265*|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Nonsense_Mutation_p.G196*|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Nonsense_Mutation_p.G265*|SORBS1_ENST00000353505.5_Nonsense_Mutation_p.G196*|SORBS1_ENST00000371249.2_Nonsense_Mutation_p.G233*|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_5'UTR	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.G196*(1)|p.G265*(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAAACAGCTCCCGTGAGGTCA	0.602																																							uc001kkp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(1)	1						c.(793-795)GGA>TGA		sorbin and SH3 domain containing 1 isoform 3							43.0	45.0	44.0					10																	97174268		2203	4300	6503	SO:0001587	stop_gained	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174268C>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.793G>T	10.37:g.97174268C>A	ENSP00000355136:p.Gly265*					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Nonsense_Mutation_p.G265*|SORBS1_uc001kkq.2_Nonsense_Mutation_p.G196*|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Nonsense_Mutation_p.G233*|SORBS1_uc001kkw.2_Nonsense_Mutation_p.G265*|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Nonsense_Mutation_p.G463*|SORBS1_uc001kkx.1_Nonsense_Mutation_p.G233*	p.G265*	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	838	-		Colorectal(252;0.0429)	265						Nonsense_Mutation	SNP	ENST00000361941.3	37	c.793G>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	37	6.564600	0.97667	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	.	.	.	5.54	5.54	0.83059	.	0.000000	0.41097	D	0.000942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.1026	19.4859	0.95028	0.0:1.0:0.0:0.0	.	.	.	.	X	196;233;265;265;265;256;196;265;265;256	.	ENSP00000277982:G265X	G	-	1	0	SORBS1	97164258	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.359000	0.66074	2.608000	0.88229	0.555000	0.69702	GGA		0.602	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			38	89	1	0	9.8876e-21	0.004878	1.19657e-20	38	89				
LOXL4	84171	broad.mit.edu	37	10	100021845	100021845	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:100021845G>A	ENST00000260702.3	-	3	553	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	135						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.R135W(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGATGGCGCCGGGGGTGGCAT	0.602																																							uc001kpa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(403-405)CGG>TGG		lysyl oxidase-like 4 precursor							49.0	45.0	46.0					10																	100021845		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100021845G>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.403C>T	10.37:g.100021845G>A	ENSP00000260702:p.Arg135Trp						p.R135W	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	3	554	-		Colorectal(252;0.234)	135					Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.403C>T	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559519	0.27827	.	.	ENSG00000138131	ENST00000260702	T	0.48522	0.81	4.69	2.76	0.32466	Speract/scavenger receptor-related (1);	0.561097	0.20271	N	0.095657	T	0.41811	0.1175	L	0.40543	1.245	0.19775	N	0.999951	D	0.60160	0.987	B	0.42653	0.394	T	0.32666	-0.9898	10	0.72032	D	0.01	.	15.478	0.75501	0.0:0.0:0.7327:0.2673	.	135	Q96JB6	LOXL4_HUMAN	W	135	ENSP00000260702:R135W	ENSP00000260702:R135W	R	-	1	2	LOXL4	100011835	0.005000	0.15991	0.940000	0.37924	0.143000	0.21401	0.388000	0.20735	0.049000	0.15920	-1.367000	0.01198	CGG		0.602	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		4	31	0	0	0	0.000602	0	4	31				
WBP1L	54838	broad.mit.edu	37	10	104573073	104573073	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:104573073C>G	ENST00000369889.4	+	4	1156	c.1014C>G	c.(1012-1014)agC>agG	p.S338R	WBP1L_ENST00000448841.1_Missense_Mutation_p.S359R	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	338	Poly-Ser.					integral component of membrane (GO:0016021)		p.S338R(1)									CCCAGAGCAGCAGCTCCCCCA	0.612																																							uc001kwe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1012-1014)AGC>AGG		hypothetical protein LOC54838 isoform 2							16.0	19.0	18.0					10																	104573073		2193	4280	6473	SO:0001583	missense	54838					integral to membrane		g.chr10:104573073C>G	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.1014C>G	10.37:g.104573073C>G	ENSP00000358905:p.Ser338Arg					C10orf26_uc001kwf.3_Missense_Mutation_p.S359R|C10orf26_uc009xxg.1_Intron	p.S338R	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	1274	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	338			Poly-Ser.		B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	c.1014C>G	CCDS7540.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639239	0.47153	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.33438	1.41;1.42	5.94	4.07	0.47477	.	0.201297	0.53938	D	0.000055	T	0.25232	0.0613	L	0.36672	1.1	0.34897	D	0.746072	B;B	0.17667	0.023;0.013	B;B	0.17979	0.02;0.005	T	0.21109	-1.0255	10	0.66056	D	0.02	-24.3462	10.9822	0.47501	0.0:0.7473:0.0:0.2527	.	359;338	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	R	359;338	ENSP00000414721:S359R;ENSP00000358905:S338R	ENSP00000358905:S338R	S	+	3	2	C10orf26	104563063	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.025000	0.30090	0.830000	0.34757	0.561000	0.74099	AGC		0.612	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		11	26	0	0	0	0.013537	0	11	26				
SORCS1	114815	broad.mit.edu	37	10	108431055	108431055	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:108431055C>T	ENST00000263054.6	-	16	2136	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	SORCS1_ENST00000369698.1_Missense_Mutation_p.G245E|SORCS1_ENST00000344440.6_Missense_Mutation_p.G710E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	710					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G710E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGCATATTTTCCTTGCATACA	0.438																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2128-2130)GGA>GAA		SORCS receptor 1 isoform a							250.0	211.0	224.0					10																	108431055		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431055C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2129G>A	10.37:g.108431055C>T	ENSP00000263054:p.Gly710Glu					SORCS1_uc001kyl.2_Missense_Mutation_p.G710E|SORCS1_uc009xxs.2_Missense_Mutation_p.G710E|SORCS1_uc001kyn.1_Missense_Mutation_p.G710E|SORCS1_uc001kyo.2_Missense_Mutation_p.G710E	p.G710E	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2137	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	710			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2129G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687012	0.88639	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.53640	0.61;0.61;0.61	5.45	5.45	0.79879	VPS10 (1);	0.064423	0.64402	D	0.000007	T	0.74574	0.3734	M	0.90198	3.095	0.58432	D	0.99999	D;D;D;D;D	0.62365	0.984;0.991;0.991;0.984;0.991	P;D;D;P;D	0.65010	0.855;0.931;0.931;0.855;0.931	T	0.78961	-0.1997	9	.	.	.	-16.1658	19.6556	0.95837	0.0:1.0:0.0:0.0	.	710;710;710;710;710	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	245;710;710	ENSP00000358712:G245E;ENSP00000263054:G710E;ENSP00000345964:G710E	.	G	-	2	0	SORCS1	108421045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.610000	0.61155	2.725000	0.93324	0.655000	0.94253	GGA		0.438	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	124	0	0	0	0.000602	0	5	124				
MCMBP	79892	broad.mit.edu	37	10	121591603	121591603	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:121591603C>G	ENST00000360003.3	-	15	1892	c.1723G>C	c.(1723-1725)Gat>Cat	p.D575H	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.D573H	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	575					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.D575H(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACAAAGTCATCTTCAACTGCC	0.428																																							uc001ler.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1723-1725)GAT>CAT		chromosome 10 open reading frame 119							123.0	100.0	108.0					10																	121591603		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121591603C>G	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1723G>C	10.37:g.121591603C>G	ENSP00000353098:p.Asp575His					C10orf119_uc001leq.1_Missense_Mutation_p.D400H|C10orf119_uc001les.1_Missense_Mutation_p.D400H	p.D575H	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	15	2021	-		Lung NSC(174;0.109)|all_lung(145;0.142)	575					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1723G>C	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103699	0.94245	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.96	5.96	0.96718	.	0.130110	0.64402	D	0.000001	T	0.70185	0.3195	M	0.71036	2.16	0.80722	D	1	P	0.47409	0.895	P	0.45946	0.498	T	0.73132	-0.4079	9	0.66056	D	0.02	-5.3078	20.422	0.99049	0.0:1.0:0.0:0.0	.	575	Q9BTE3	MCMBP_HUMAN	H	575;573	.	ENSP00000353098:D575H	D	-	1	0	MCMBP	121581593	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.760000	0.85248	2.832000	0.97577	0.655000	0.94253	GAT		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		19	82	0	0	0	0.008871	0	19	82				
MUC2	4583	broad.mit.edu	37	11	1078320	1078320	+	Missense_Mutation	SNP	G	G	A	rs72652894	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1078320G>A	ENST00000441003.2	+	5	634	c.607G>A	c.(607-609)Gat>Aat	p.D203N	MUC2_ENST00000359061.5_Missense_Mutation_p.D203N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	203	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.D203N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCAGCCCGATGTGGTGTG	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		15441	0.0		0.0	False		,,,				2504	0.002						uc001lsx.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(607-609)GAT>AAT		mucin 2 precursor	Pranlukast(DB01411)	G	ASN/ASP	0,4152		0,0,2076	74.0	90.0	85.0		607	3.1	0.0	11	dbSNP_130	85	6,8372		0,6,4183	yes	missense	MUC2	NM_002457.2	23	0,6,6259	AA,AG,GG		0.0716,0.0,0.0479	benign	203/2813	1078320	6,12524	2076	4189	6265	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078320G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.607G>A	11.37:g.1078320G>A	ENSP00000415183:p.Asp203Asn						p.D203N	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	634	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	203			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.607G>A		.	.	.	.	.	.	.	.	.	.	G	8.835	0.940940	0.18281	0.0	7.16E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.65;2.58	4.08	3.12	0.35913	.	3.226570	0.01706	U	0.027436	T	0.07728	0.0194	N	0.11064	0.09	0.09310	N	1	B	0.18741	0.03	B	0.16289	0.015	T	0.34551	-0.9824	10	0.07644	T	0.81	.	5.7493	0.18138	0.1473:0.1949:0.6578:0.0	.	203	E7EUV1	.	N	203	ENSP00000415183:D203N;ENSP00000351956:D203N	ENSP00000351956:D203N	D	+	1	0	MUC2	1068320	0.021000	0.18746	0.001000	0.08648	0.001000	0.01503	2.368000	0.44222	0.639000	0.30564	0.561000	0.74099	GAT		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		21	109	0	0	0	0.003954	0	21	109				
MUC5B	727897	broad.mit.edu	37	11	1265896	1265896	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1265896C>T	ENST00000529681.1	+	31	7844	c.7786C>T	c.(7786-7788)Ccc>Tcc	p.P2596S	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2599S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2596	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2596S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGGCCACCCCCTCCTCCAC	0.652																																							uc009ycr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(9700-9702)CCC>TCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							103.0	135.0	124.0					11																	1265896		2042	4184	6226	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265896C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7786C>T	11.37:g.1265896C>T	ENSP00000436812:p.Pro2596Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.P2599S	p.P3234S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9826	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2596	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9700C>T	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.313|4.313	0.057421|0.057421	0.08339|0.08339	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.21734	.|1.99;2.18	2.16|2.16	-0.565|-0.565	0.11771|0.11771	.|.	.|.	.|.	.|.	.|.	T|T	0.17619|0.17619	0.0423|0.0423	L|L	0.52011|0.52011	1.625|1.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.003	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.28618|0.28618	-1.0038|-1.0038	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.9741|5.9741	0.19369|0.19369	0.0:0.6296:0.0:0.3704|0.0:0.6296:0.0:0.3704	.|.	.|3234;2599	.|A7Y9J9;E9PBJ0	.|.;.	L|S	138|2596;2599;2568;2611	.|ENSP00000436812:P2596S;ENSP00000415793:P2599S	ENSP00000440615:P138L|ENSP00000343037:P2568S	P|P	+|+	2|1	0|0	MUC5B|MUC5B	1222472|1222472	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.061000|0.061000	0.15899|0.15899	-6.766000|-6.766000	0.00054|0.00054	-0.122000|-0.122000	0.11766|0.11766	0.205000|0.205000	0.17691|0.17691	CCC|CCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	73	0	0	0	0.00245	0	9	73				
MUC5B	727897	broad.mit.edu	37	11	1273700	1273700	+	Silent	SNP	G	G	A	rs375647544		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1273700G>A	ENST00000529681.1	+	32	15049	c.14991G>A	c.(14989-14991)ccG>ccA	p.P4997P	MUC5B_ENST00000447027.1_Silent_p.P5000P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4997					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P4997P(1)|p.P4952P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCGCCCCGCTGTCCTCGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15700	0.0		0.0	False		,,,				2504	0.001						uc009ycr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(15955-15957)CCG>CCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		G		12,4196		0,12,2092	35.0	45.0	41.0		14991	-9.3	0.0	11		41	1,8385		0,1,4192	no	coding-synonymous	MUC5B	NM_002458.2		0,13,6284	AA,AG,GG		0.0119,0.2852,0.1032		4997/5763	1273700	13,12581	2104	4193	6297	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273700G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14991G>A	11.37:g.1273700G>A						MUC5B_uc001ltb.2_Silent_p.P5000P	p.P5319P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	53	16083	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4997					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15957G>A	CCDS44515.2																																																																																				0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	18	0	0	0	0.00245	0	6	18				
ZNF195	7748	broad.mit.edu	37	11	3381328	3381328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:3381328C>A	ENST00000399602.4	-	6	1036	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ZNF195_ENST00000005082.9_Nonsense_Mutation_p.E281*|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.E236*|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.E236*|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Nonsense_Mutation_p.E285*|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000354599.6_Nonsense_Mutation_p.E232*	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E232*(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGTTACATTCTTGACACTTG	0.368																																							uc001lxt.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(910-912)GAA>TAA		zinc finger protein 195 isoform 1							104.0	99.0	101.0					11																	3381328		1910	4136	6046	SO:0001587	stop_gained	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381328C>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.910G>T	11.37:g.3381328C>A	ENSP00000382511:p.Glu304*					uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Nonsense_Mutation_p.E281*|ZNF195_uc001lxs.2_Nonsense_Mutation_p.E232*|ZNF195_uc010qxr.1_Nonsense_Mutation_p.E285*|ZNF195_uc009ydz.2_Nonsense_Mutation_p.E259*|ZNF195_uc001lxu.2_Nonsense_Mutation_p.E236*	p.E304*	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1088	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	304					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Nonsense_Mutation	SNP	ENST00000399602.4	37	c.910G>T	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.977135	0.34848	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	.	.	.	1.11	-0.512	0.11966	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.3312	0.21270	0.0:0.6896:0.3104:0.0	.	.	.	.	X	232;304;236;236;281;285;259	.	ENSP00000005082:E281X	E	-	1	0	ZNF195	3337904	0.000000	0.05858	0.045000	0.18777	0.018000	0.09664	-0.948000	0.03897	0.518000	0.28383	0.313000	0.20887	GAA		0.368	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			24	132	1	0	1.1804e-14	0.003954	1.37713e-14	24	132				
ART5	116969	broad.mit.edu	37	11	3661475	3661475	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:3661475C>T	ENST00000397068.3	-	2	576	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Missense_Mutation_p.A62T|ART5_ENST00000359918.4_Missense_Mutation_p.A62T	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	62					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)	p.A62T(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGCAGGGCATGGTGGGCC	0.607																																							uc001lyb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)GCC>ACC		ADP-ribosyltransferase 5 precursor							44.0	42.0	43.0					11																	3661475		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3661475C>T	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.184G>A	11.37:g.3661475C>T	ENSP00000380258:p.Ala62Thr					ART5_uc001lyc.1_Missense_Mutation_p.A62T|ART5_uc001lyd.2_Missense_Mutation_p.A62T|ART5_uc009yea.2_Missense_Mutation_p.A62T	p.A62T	NM_053017	NP_443750	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	577	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	62					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.184G>A	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.08|10.08	1.251089|1.251089	0.22880|0.22880	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918;ENST00000425767|ENST00000453353	T;T;T;T|.	0.08807|.	3.05;3.05;3.05;3.05|.	6.07|6.07	0.759|0.759	0.18438|0.18438	.|.	0.660669|.	0.16100|.	N|.	0.229601|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.007;0.011|.	B;B|.	0.18871|.	0.015;0.023|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.25751|.	T|.	0.34|.	-4.5038|-4.5038	3.085|3.085	0.06275|0.06275	0.1278:0.537:0.1144:0.2209|0.1278:0.537:0.1144:0.2209	.|.	62;62|.	Q96L15-2;Q96L15|.	.;NAR5_HUMAN|.	T|Y	62;62;62;41|18	ENSP00000380258:A62T;ENSP00000380257:A62T;ENSP00000352992:A62T;ENSP00000413852:A41T|.	ENSP00000352992:A62T|.	A|C	-|-	1|2	0|0	ART5|ART5	3618051|3618051	0.000000|0.000000	0.05858|0.05858	0.478000|0.478000	0.27316|0.27316	0.983000|0.983000	0.72400|0.72400	-1.301000|-1.301000	0.02749|0.02749	0.464000|0.464000	0.27142|0.27142	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.607	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		18	42	0	0	0	0.012319	0	18	42				
OR2AG2	338755	broad.mit.edu	37	11	6789999	6789999	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:6789999C>A	ENST00000338569.2	-	1	287	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G64W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGAGCTGCCCAAGCAGGAGG	0.532																																							uc001meq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(190-192)GGG>TGG		olfactory receptor, family 2, subfamily AG,							140.0	128.0	132.0					11																	6789999		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789999C>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.190G>T	11.37:g.6789999C>A	ENSP00000342697:p.Gly64Trp						p.G64W	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	190	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	64			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.190G>T	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308854	0.23821	.	.	ENSG00000188124	ENST00000338569	T	0.00481	7.11	4.15	0.905	0.19307	GPCR, rhodopsin-like superfamily (1);	0.146153	0.32987	N	0.005403	T	0.00468	0.0015	M	0.66506	2.035	0.09310	N	1	B	0.17852	0.024	B	0.19946	0.027	T	0.43621	-0.9380	10	0.66056	D	0.02	.	7.9865	0.30216	0.0:0.6863:0.0:0.3137	.	64	A6NM03	O2AG2_HUMAN	W	64	ENSP00000342697:G64W	ENSP00000342697:G64W	G	-	1	0	OR2AG2	6746575	0.000000	0.05858	0.030000	0.17652	0.989000	0.77384	-1.729000	0.01856	0.211000	0.20683	0.561000	0.74099	GGG		0.532	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		35	138	1	0	3.09479e-21	0.006999	3.75796e-21	35	138				
OR10A4	283297	broad.mit.edu	37	11	6898297	6898297	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:6898297T>A	ENST00000379829.2	+	1	442	c.419T>A	c.(418-420)aTa>aAa	p.I140K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	140					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I140K(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGGCCACATATCCTGTGCC	0.552																																							uc010rat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)ATA>AAA		olfactory receptor, family 10, subfamily A,							65.0	60.0	62.0					11																	6898297		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898297T>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.419T>A	11.37:g.6898297T>A	ENSP00000369157:p.Ile140Lys						p.I140K	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	419	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	140			Cytoplasmic (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.419T>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.814700	0.00600	.	.	ENSG00000170782	ENST00000379829	T	0.03889	3.77	4.6	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.336231	0.21950	N	0.066746	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	10	0.11485	T	0.65	.	5.0574	0.14540	0.4956:0.0:0.3384:0.166	.	140	Q9H209	O10A4_HUMAN	K	140	ENSP00000369157:I140K	ENSP00000369157:I140K	I	+	2	0	OR10A4	6854873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.674000	0.00842	-0.513000	0.06496	-2.061000	0.00397	ATA		0.552	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		12	47	0	0	0	0.010729	0	12	47				
NLRP10	338322	broad.mit.edu	37	11	7982783	7982784	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:7982783_7982784GG>CT	ENST00000328600.2	-	2	536_537	c.375_376CC>AG	c.(373-378)ctCCtg>ctAGtg	p.L126V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	126					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L126V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGGCCACCAGGAGCACCTGGT	0.55																																							uc001mfv.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(373-378)CTCCTG>CTAGTG		NLR family, pyrin domain containing 10																																				SO:0001583	missense	338322						ATP binding	g.chr11:7982783_7982784GG>CT	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.375_376delinsCT	11.37:g.7982783_7982784delinsCT	ENSP00000327763:p.Leu126Val						p.L126V	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	392_393	-			126					Q2M3C4|Q6JGT0	Missense_Mutation	DNP	ENST00000328600.2	37	c.375_376CC>AG	CCDS7784.1																																																																																				0.550	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		13	96	0	0	0	0.004672	0	13	96				
RIC3	79608	broad.mit.edu	37	11	8159825	8159825	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:8159825T>C	ENST00000309737.6	-	3	420	c.421A>G	c.(421-423)Aaa>Gaa	p.K141E	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.K141E|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.K92E|RIC3_ENST00000425599.2_Missense_Mutation_p.K141E			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	141					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K141E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTACTAATTTTCCTGTGGGTG	0.423																																							uc001mgd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(421-423)AAA>GAA		resistance to inhibitors of cholinesterase 3							272.0	267.0	269.0					11																	8159825		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159825T>C		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.421A>G	11.37:g.8159825T>C	ENSP00000308820:p.Lys141Glu					RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Missense_Mutation_p.K141E|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K91E|RIC3_uc010rbm.1_Missense_Mutation_p.K141E|RIC3_uc009yfm.2_Missense_Mutation_p.K141E|RIC3_uc009yfn.2_Intron	p.K141E	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	475	-			141			Potential.|Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.421A>G	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183004	0.78677	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.78	5.78	0.91487	.	0.064051	0.64402	D	0.000006	T	0.49626	0.1568	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.63880	0.977;0.993;0.971;0.971	P;P;P;P	0.60789	0.725;0.879;0.634;0.634	T	0.42932	-0.9422	10	0.34782	T	0.22	.	14.684	0.69037	0.0:0.0:0.0:1.0	.	141;141;141;141	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	E	141;141;141;92;141;141	ENSP00000344904:K141E;ENSP00000308820:K141E;ENSP00000443871:K92E;ENSP00000395320:K141E;ENSP00000431658:K141E	ENSP00000308820:K141E	K	-	1	0	RIC3	8116401	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.120000	0.64685	2.210000	0.71456	0.496000	0.49642	AAA		0.423	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		74	241	0	0	0	0.01441	0	74	241				
EIF4G2	1982	broad.mit.edu	37	11	10821641	10821641	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:10821641G>C	ENST00000526148.1	-	18	2625	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	EIF4G2_ENST00000525681.1_Silent_p.L705L|EIF4G2_ENST00000396525.2_Silent_p.L667L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L705L|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L705L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTTACCTGGGAGCATTTTCT	0.353																																							uc001mjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2113-2115)CTC>CTG		eukaryotic translation initiation factor 4							90.0	95.0	93.0					11																	10821641		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821641G>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2115C>G	11.37:g.10821641G>C						EIF4G2_uc001mjb.2_Silent_p.L499L|EIF4G2_uc009ygf.2_Silent_p.L499L|EIF4G2_uc001mjd.2_Silent_p.L667L	p.L705L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	18	2532	-			705						Silent	SNP	ENST00000526148.1	37	c.2115C>G	CCDS31428.1																																																																																				0.353	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		4	108	0	0	0	0.009096	0	4	108				
LDHAL6A	160287	broad.mit.edu	37	11	18497989	18497989	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:18497989T>C	ENST00000280706.2	+	5	1448	c.651T>C	c.(649-651)gaT>gaC	p.D217D	LDHAL6A_ENST00000396213.3_Silent_p.D217D|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	217					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.D217D(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						TGAACCCAGATATAGGAACTG	0.413																																							uc001mop.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)GAT>GAC		lactate dehydrogenase A-like 6A	NADH(DB00157)						166.0	159.0	161.0					11																	18497989		2199	4293	6492	SO:0001819	synonymous_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497989T>C	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.651T>C	11.37:g.18497989T>C						LDHAL6A_uc001moq.2_Silent_p.D217D	p.D217D	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN			6	912	+			217					D3DQY5	Silent	SNP	ENST00000280706.2	37	c.651T>C	CCDS7841.1																																																																																				0.413	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		17	113	0	0	0	0.008871	0	17	113				
LIN7C	55327	broad.mit.edu	37	11	27528274	27528274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:27528274C>G	ENST00000278193.2	-	1	46	c.26G>C	c.(25-27)cGg>cCg	p.R9P	BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501176.2_RNA|LIN7C_ENST00000524596.1_Missense_Mutation_p.R9P|BDNF-AS_ENST00000500662.2_RNA	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	9					exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)	p.R9P(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCTCTCCAGCCGCACGGGTTC	0.667																																							uc001mrl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)CGG>CCG		lin-7 homolog C							56.0	61.0	59.0					11																	27528274		2202	4299	6501	SO:0001583	missense	55327				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		g.chr11:27528274C>G	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.26G>C	11.37:g.27528274C>G	ENSP00000278193:p.Arg9Pro					LIN7C_uc009yii.2_Missense_Mutation_p.R9P|BDNFOS_uc001mrm.2_5'Flank|BDNFOS_uc009yij.2_5'Flank|BDNFOS_uc009yik.2_5'Flank|BDNFOS_uc009yil.2_5'Flank|BDNFOS_uc001mrp.2_5'Flank|BDNFOS_uc009yim.2_5'Flank|BDNFOS_uc009yin.2_5'Flank|BDNFOS_uc009yio.2_5'Flank|BDNFOS_uc009yip.2_5'Flank|BDNFOS_uc001mrn.2_5'Flank|BDNFOS_uc009yiq.2_5'Flank|BDNFOS_uc001mro.2_5'Flank|BDNFOS_uc009yir.2_5'Flank|BDNFOS_uc009yis.2_5'Flank|BDNFOS_uc009yit.2_5'Flank|BDNFOS_uc009yiu.2_5'Flank|BDNFOS_uc009yiv.2_5'Flank|BDNFOS_uc009yiw.2_5'Flank|BDNFOS_uc009yix.2_5'Flank|BDNFOS_uc009yiy.2_5'Flank|BDNFOS_uc009yiz.2_5'Flank|BDNFOS_uc001mrq.3_5'Flank|BDNFOS_uc001mrr.3_5'Flank|BDNFOS_uc009yja.2_5'Flank|BDNFOS_uc009yjb.2_5'Flank	p.R9P	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN			1	53	-			9			Kinase interacting site (By similarity).			Missense_Mutation	SNP	ENST00000278193.2	37	c.26G>C	CCDS7864.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172914	0.38413	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.18502	2.3;2.21	5.31	2.41	0.29592	.	0.060353	0.64402	N	0.000003	T	0.13415	0.0325	L	0.36672	1.1	0.47308	D	0.999381	B;B	0.33000	0.305;0.393	B;B	0.34931	0.192;0.094	T	0.07233	-1.0783	10	0.49607	T	0.09	.	8.159	0.31187	0.0:0.7266:0.1299:0.1436	.	9;9	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	P	9	ENSP00000278193:R9P;ENSP00000435353:R9P	ENSP00000278193:R9P	R	-	2	0	LIN7C	27484850	1.000000	0.71417	0.969000	0.41365	0.323000	0.28346	6.720000	0.74723	0.322000	0.23283	0.561000	0.74099	CGG		0.667	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2	NM_018362		14	72	0	0	0	0.004007	0	14	72				
ARL14EP	120534	broad.mit.edu	37	11	30352809	30352809	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:30352809T>C	ENST00000282032.3	+	2	529	c.314T>C	c.(313-315)tTt>tCt	p.F105S		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	105						cytoplasm (GO:0005737)		p.F105S(1)									AGTGCTAAATTTGGAAGACAG	0.378																																							uc001mso.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)TTT>TCT		hypothetical protein LOC120534							110.0	110.0	110.0					11																	30352809		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30352809T>C	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.314T>C	11.37:g.30352809T>C	ENSP00000282032:p.Phe105Ser						p.F105S	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN			2	478	+			105					Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.314T>C	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536611	0.65085	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.62232	0.04	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	T	0.67050	0.2852	L	0.36672	1.1	0.41254	D	0.986737	P	0.51449	0.945	D	0.68621	0.959	T	0.61466	-0.7057	10	0.08381	T	0.77	-25.2146	14.3068	0.66389	0.0:0.0:0.0:1.0	.	105	Q8N8R7	CK046_HUMAN	S	105	ENSP00000282032:F105S	ENSP00000282032:F105S	F	+	2	0	C11orf46	30309385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.296000	0.65698	2.125000	0.65367	0.533000	0.62120	TTT		0.378	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		10	86	0	0	0	0.013537	0	10	86				
TTC17	55761	broad.mit.edu	37	11	43411267	43411267	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:43411267G>C	ENST00000039989.4	+	3	329	c.315G>C	c.(313-315)caG>caC	p.Q105H	TTC17_ENST00000299240.6_Missense_Mutation_p.Q105H|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	105					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q105H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACTGGAACAGAGACATAATA	0.403																																							uc001mxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(313-315)CAG>CAC		tetratricopeptide repeat domain 17							144.0	134.0	137.0					11																	43411267		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411267G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.315G>C	11.37:g.43411267G>C	ENSP00000039989:p.Gln105His					TTC17_uc001mxh.2_Missense_Mutation_p.Q105H|TTC17_uc010rfj.1_Missense_Mutation_p.Q48H	p.Q105H	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	329	+			105					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.315G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568713	0.65651	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.34859	1.34;1.35	4.87	-0.0833	0.13694	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.56769	1.78	0.44736	D	0.997739	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.986;0.995;0.999	T	0.44802	-0.9304	10	0.72032	D	0.01	-12.1715	8.04	0.30515	0.573:0.0:0.427:0.0	.	105;105;105	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	105	ENSP00000299240:Q105H;ENSP00000039989:Q105H	ENSP00000039989:Q105H	Q	+	3	2	TTC17	43367843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	0.137000	0.18759	0.563000	0.77884	CAG		0.403	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		7	122	0	0	0	0.00308	0	7	122				
TTC17	55761	broad.mit.edu	37	11	43411289	43411289	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:43411289G>A	ENST00000039989.4	+	3	351	c.337G>A	c.(337-339)Gac>Aac	p.D113N	TTC17_ENST00000299240.6_Missense_Mutation_p.D113N|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	113					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D113N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAAGACCCAGACTGCATCAA	0.408																																							uc001mxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(337-339)GAC>AAC		tetratricopeptide repeat domain 17							147.0	140.0	142.0					11																	43411289		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411289G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.337G>A	11.37:g.43411289G>A	ENSP00000039989:p.Asp113Asn					TTC17_uc001mxh.2_Missense_Mutation_p.D113N|TTC17_uc010rfj.1_Missense_Mutation_p.D56N	p.D113N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	351	+			113					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.337G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311405	0.95655	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.39406	1.29;1.08	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.67991	-0.5527	10	0.66056	D	0.02	-19.0779	18.3743	0.90430	0.0:0.0:1.0:0.0	.	113;113;113	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	N	113	ENSP00000299240:D113N;ENSP00000039989:D113N	ENSP00000039989:D113N	D	+	1	0	TTC17	43367865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.400000	0.81607	0.563000	0.77884	GAC		0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		13	145	0	0	0	0.00245	0	13	145				
MYBPC3	4607	broad.mit.edu	37	11	47364614	47364614	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:47364614C>T	ENST00000545968.1	-	15	1363	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V436M|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V437M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	437	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V437M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCACCCACCACGCACTGGTAG	0.627																																							uc001nfa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1309-1311)GTG>ATG		myosin binding protein C, cardiac							43.0	48.0	46.0					11																	47364614		2132	4243	6375	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364614C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1309G>A	11.37:g.47364614C>T	ENSP00000442795:p.Val437Met					MYBPC3_uc010rhl.1_RNA	p.V437M	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1364	-			436			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1309G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	8.141	0.785134	0.16189	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68765	-0.35;-0.35;-0.35	4.72	1.81	0.25067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58977	0.2160	L	0.52823	1.66	0.46478	D	0.99906	P	0.36974	0.576	B	0.36378	0.223	T	0.59332	-0.7474	9	0.54805	T	0.06	.	10.262	0.43431	0.0:0.7746:0.0:0.2254	.	436	Q14896	MYPC3_HUMAN	M	437;437;436	ENSP00000442795:V437M;ENSP00000382193:V437M;ENSP00000256993:V436M	ENSP00000256993:V436M	V	-	1	0	MYBPC3	47321190	0.014000	0.17966	0.998000	0.56505	0.017000	0.09413	0.280000	0.18790	0.615000	0.30124	-1.449000	0.01048	GTG		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			4	14	0	0	0	0.000602	0	4	14				
OR4A15	81328	broad.mit.edu	37	11	55136023	55136023	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:55136023G>T	ENST00000314706.3	+	1	664	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V222F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAATACCTATGTCACTGGGCT	0.418																																							uc010rif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)GTC>TTC		olfactory receptor, family 4, subfamily A,							129.0	117.0	121.0					11																	55136023		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136023G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.664G>T	11.37:g.55136023G>T	ENSP00000325065:p.Val222Phe						p.V222F	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	664	+			222			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.664G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	1.968	-0.437128	0.04636	.	.	ENSG00000181958	ENST00000314706	T	0.00158	8.65	3.65	-7.29	0.01451	GPCR, rhodopsin-like superfamily (1);	0.508110	0.16449	N	0.213925	T	0.00073	0.0002	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.42430	-0.9452	10	0.27785	T	0.31	.	1.3159	0.02107	0.1955:0.3082:0.2956:0.2007	.	222	Q8NGL6	O4A15_HUMAN	F	222	ENSP00000325065:V222F	ENSP00000325065:V222F	V	+	1	0	OR4A15	54892599	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.407000	0.00239	-1.347000	0.02208	-0.465000	0.05216	GTC		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		15	96	1	0	8.60227e-14	0.004007	9.97082e-14	15	96				
OR5M9	390162	broad.mit.edu	37	11	56230488	56230488	+	Silent	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:56230488A>G	ENST00000279791.1	-	1	389	c.390T>C	c.(388-390)taT>taC	p.Y130Y		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTACTGCCATAAAGCAGAG	0.483																																							uc010rjj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(388-390)TAT>TAC		olfactory receptor, family 5, subfamily M,							102.0	101.0	101.0					11																	56230488		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230488A>G	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.390T>C	11.37:g.56230488A>G							p.Y130Y	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	390	-	Esophageal squamous(21;0.00448)		130			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.390T>C	CCDS31531.1																																																																																				0.483	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		34	42	0	0	0	0.005524	0	34	42				
AHNAK	79026	broad.mit.edu	37	11	62300197	62300197	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:62300197G>A	ENST00000378024.4	-	5	1966	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	564					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.T564T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TACAGGTTCCGGTTTTCCCGG	0.517																																							uc001ntl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1690-1692)ACC>ACT		AHNAK nucleoprotein isoform 1							76.0	84.0	81.0					11																	62300197		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62300197G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1692C>T	11.37:g.62300197G>A						AHNAK_uc001ntk.1_Intron	p.T564T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	1992	-		Melanoma(852;0.155)	564					A1A586	Silent	SNP	ENST00000378024.4	37	c.1692C>T	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	88	0	0	0	0.004289	0	35	88				
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|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)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458																																							uc001nva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)TCA>TTA		DNA directed RNA polymerase II polypeptide G							187.0	185.0	186.0					11																	62532822		2202	4299	6501	SO:0001583	missense	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62532822C>T	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.344C>T	11.37:g.62532822C>T	ENSP00000301788:p.Ser115Leu					POLR2G_uc001nvb.2_RNA	p.S115L	NM_002696	NP_002687	P62487	RPB7_HUMAN			5	454	+			115					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.344C>T	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805362	0.50315	.	.	ENSG00000168002	ENST00000301788;ENST00000533442	T	0.63580	-0.05	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.78456	2.415	0.80722	D	1	B	0.18968	0.032	B	0.19148	0.024	T	0.62798	-0.6778	10	0.48119	T	0.1	-9.0806	17.8301	0.88679	0.0:1.0:0.0:0.0	.	115	P62487	RPB7_HUMAN	L	115;12	ENSP00000301788:S115L	ENSP00000301788:S115L	S	+	2	0	POLR2G	62289398	1.000000	0.71417	0.892000	0.35008	0.771000	0.43674	5.079000	0.64431	2.814000	0.96858	0.563000	0.77884	TCA		0.458	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		37	198	0	0	0	0.00623	0	37	198				
SART1	9092	broad.mit.edu	37	11	65732040	65732040	+	Splice_Site	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:65732040G>C	ENST00000312397.5	+	3	518	c.426G>C	c.(424-426)aaG>aaC	p.K142N	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	142					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K142N(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCATCAAGAAGGGTGAGTATG	0.507																																							uc001ogl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(424-426)AAG>AAC		squamous cell carcinoma antigen recognized by T							73.0	75.0	75.0					11																	65732040		2201	4296	6497	SO:0001630	splice_region_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65732040G>C	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.427+1G>C	11.37:g.65732040G>C						SART1_uc010rot.1_5'UTR	p.K142N	NM_005146	NP_005137	O43290	SNUT1_HUMAN			3	518	+			142					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.426G>C	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344594	0.61073	.	.	ENSG00000175467	ENST00000312397	T	0.23754	1.89	4.46	-0.15	0.13416	.	0.224693	0.36893	N	0.002341	T	0.34542	0.0901	M	0.75777	2.31	0.41997	D	0.990878	P	0.51449	0.945	P	0.54460	0.753	T	0.14783	-1.0460	10	0.87932	D	0	-23.4776	3.9505	0.09368	0.4968:0.0:0.3351:0.1681	.	142	O43290	SNUT1_HUMAN	N	142	ENSP00000310448:K142N	ENSP00000310448:K142N	K	+	3	2	SART1	65488616	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	1.009000	0.29886	0.059000	0.16252	0.549000	0.68633	AAG		0.507	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		Missense_Mutation	23	115	0	0	0	0.014323	0	23	115				
PPFIA1	8500	broad.mit.edu	37	11	70184483	70184483	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:70184483C>G	ENST00000253925.7	+	13	1710	c.1495C>G	c.(1495-1497)Cag>Gag	p.Q499E	PPFIA1_ENST00000389547.3_Missense_Mutation_p.Q499E|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	499					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.Q499E(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTGTAGGATCAGCTTGTCCT	0.408																																							uc001opo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1495-1497)CAG>GAG		PTPRF interacting protein alpha 1 isoform b							138.0	130.0	132.0					11																	70184483		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70184483C>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1495C>G	11.37:g.70184483C>G	ENSP00000253925:p.Gln499Glu					PPFIA1_uc001opn.1_Missense_Mutation_p.Q499E|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.Q499E	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		13	1693	+			499			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.1495C>G	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.34|11.34	1.609335|1.609335	0.28623|0.28623	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547|ENST00000530798	T;T|.	0.37235|.	1.21;1.21|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.074981|.	0.53938|.	U|.	0.000043|.	T|.	0.61714|.	0.2369|.	L|L	0.41961|0.41961	1.31|1.31	0.38804|0.38804	D|D	0.955278|0.955278	B;B|.	0.11235|.	0.004;0.004|.	B;B|.	0.19946|.	0.027;0.005|.	T|.	0.61903|.	-0.6967|.	10|.	0.19590|.	T|.	0.45|.	.|.	17.1156|17.1156	0.86688|0.86688	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	499;499|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	E|X	499|50	ENSP00000253925:Q499E;ENSP00000374198:Q499E|.	ENSP00000253925:Q499E|.	Q|S	+|+	1|2	0|0	PPFIA1|PPFIA1	69862131|69862131	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.814000|0.814000	0.46013|0.46013	2.703000|2.703000	0.47110|0.47110	2.217000|2.217000	0.71921|0.71921	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.408	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		5	173	0	0	0	0.000602	0	5	173				
PDE2A	5138	broad.mit.edu	37	11	72290425	72290425	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:72290425G>A	ENST00000334456.5	-	27	2504	c.2259C>T	c.(2257-2259)gaC>gaT	p.D753D	PDE2A_ENST00000444035.2_Silent_p.D744D|PDE2A_ENST00000418754.2_Silent_p.D638D|PDE2A_ENST00000376450.3_Silent_p.D497D|PDE2A_ENST00000540345.1_Silent_p.D744D|PDE2A_ENST00000544570.1_Silent_p.D746D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	753	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.D753D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGCGCTGATAGTCCTGAGGCG	0.602																																							uc010rrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2257-2259)GAC>GAT		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						73.0	65.0	67.0					11																	72290425		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290425G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2259C>T	11.37:g.72290425G>A						PDE2A_uc001oso.2_Silent_p.D732D|PDE2A_uc010rra.1_Silent_p.D746D|PDE2A_uc001osn.2_Silent_p.D497D|PDE2A_uc010rrb.1_Silent_p.D744D|PDE2A_uc010rrd.1_Silent_p.D638D	p.D753D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2502	-			753			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2259C>T	CCDS8216.1																																																																																				0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		31	65	0	0	0	0.008361	0	31	65				
TSKU	25987	broad.mit.edu	37	11	76507537	76507537	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:76507537C>G	ENST00000527881.1	+	2	1903	c.877C>G	c.(877-879)Ccc>Gcc	p.P293A	TSKU_ENST00000333090.4_Missense_Mutation_p.P293A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	293					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.P293A(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CAACCTGGTGCCCCTGCCTGA	0.682																																							uc001oxt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CCC>GCC		tsukushin precursor							25.0	27.0	26.0					11																	76507537		2195	4287	6482	SO:0001583	missense	25987					extracellular region		g.chr11:76507537C>G	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.877C>G	11.37:g.76507537C>G	ENSP00000434847:p.Pro293Ala						p.P293A	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	1049	+	Ovarian(111;0.112)		293			LRR 10.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.877C>G	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.918299	0.00503	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.04119	3.7;3.7	4.64	1.52	0.23074	.	0.303789	0.37483	N	0.002074	T	0.00875	0.0029	N	0.00315	-1.66	0.36170	D	0.848726	B	0.19331	0.035	B	0.15484	0.013	T	0.36866	-0.9730	10	0.05959	T	0.93	-20.3787	1.387	0.02242	0.1542:0.3728:0.2762:0.1968	.	293	Q8WUA8	TSK_HUMAN	A	293;261;293	ENSP00000332668:P293A;ENSP00000434847:P293A	ENSP00000332668:P293A	P	+	1	0	TSKU	76185185	0.029000	0.19370	0.996000	0.52242	0.081000	0.17604	1.516000	0.35856	1.076000	0.40961	0.561000	0.74099	CCC		0.682	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		19	23	0	0	0	0.003954	0	19	23				
FAT3	120114	broad.mit.edu	37	11	92534374	92534374	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:92534374T>C	ENST00000298047.6	+	9	8212	c.8195T>C	c.(8194-8196)aTt>aCt	p.I2732T	FAT3_ENST00000409404.2_Missense_Mutation_p.I2732T|FAT3_ENST00000525166.1_Missense_Mutation_p.I2582T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2732	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2732T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCCTGAGGATTTTGCCCAGT	0.468										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8194-8196)ATT>ACT		FAT tumor suppressor homolog 3							61.0	59.0	60.0					11																	92534374		1952	4151	6103	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534374T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8195T>C	11.37:g.92534374T>C	ENSP00000298047:p.Ile2732Thr	TCGA Ovarian(4;0.039)					p.I2732T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8212	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2732			Extracellular (Potential).|Cadherin 25.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8195T>C		.	.	.	.	.	.	.	.	.	.	T	7.945	0.743601	0.15642	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61158	0.13;0.13;0.13	5.74	5.74	0.90152	.	.	.	.	.	T	0.46190	0.1380	N	0.25957	0.775	0.42677	D	0.993534	B	0.31625	0.332	B	0.33620	0.167	T	0.39761	-0.9598	9	0.16896	T	0.51	.	16.0299	0.80570	0.0:0.0:0.0:1.0	.	2732	Q8TDW7-3	.	T	2732;2732;2582	ENSP00000298047:I2732T;ENSP00000387040:I2732T;ENSP00000432586:I2582T	ENSP00000298047:I2732T	I	+	2	0	FAT3	92174022	0.009000	0.17119	0.121000	0.21740	0.841000	0.47740	1.767000	0.38501	2.198000	0.70561	0.482000	0.46254	ATT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	26	0	0	0	0.000602	0	4	26				
DSCAML1	57453	broad.mit.edu	37	11	117647510	117647510	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:117647510G>A	ENST00000321322.6	-	3	688	c.687C>T	c.(685-687)atC>atT	p.I229I	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	169	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I229I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTACCTGGGATGATGGAGA	0.537																																							uc001prh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(685-687)ATC>ATT		Down syndrome cell adhesion molecule like 1							121.0	108.0	112.0					11																	117647510		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117647510G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.687C>T	11.37:g.117647510G>A						DSCAML1_uc001pri.1_Silent_p.I33I	p.I229I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	3	689	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	169			Extracellular (Potential).|Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.687C>T	CCDS8384.1																																																																																				0.537	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	83	0	0	0	0.004482	0	7	83				
ATP5L	10632	broad.mit.edu	37	11	118279753	118279753	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:118279753G>T	ENST00000300688.3	+	3	764	c.252G>T	c.(250-252)ttG>ttT	p.L84F	ATP5L_ENST00000524422.1_Intron|ATP5L_ENST00000529770.1_3'UTR	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	84					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.L84F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CTGAGGTGTTGATGTGGTTTT	0.323																																							uc001psx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TTG>TTT		ATP synthase, H+ transporting, mitochondrial F0							112.0	104.0	107.0					11																	118279753		2200	4296	6496	SO:0001583	missense	10632				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	g.chr11:118279753G>T	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.252G>T	11.37:g.118279753G>T	ENSP00000300688:p.Leu84Phe						p.L84F	NM_006476	NP_006467	O75964	ATP5L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)	3	529	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	84					A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	c.252G>T	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783862	0.49891	.	.	ENSG00000167283	ENST00000300688	.	.	.	5.9	4.94	0.65067	.	0.263994	0.37136	N	0.002222	T	0.65365	0.2684	L	0.59912	1.85	0.80722	D	1	B	0.29341	0.242	B	0.41813	0.367	T	0.61987	-0.6949	9	0.33940	T	0.23	0.579	13.2444	0.60016	0.0:0.1275:0.7554:0.1171	.	84	O75964	ATP5L_HUMAN	F	84	.	ENSP00000300688:L84F	L	+	3	2	ATP5L	117784963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.631000	0.46502	2.788000	0.95919	0.650000	0.86243	TTG		0.323	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476		18	26	1	0	2.21704e-12	0.00278	2.52869e-12	18	26				
TECTA	7007	broad.mit.edu	37	11	120996139	120996139	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:120996139C>T	ENST00000392793.1	+	8	1603	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	TECTA_ENST00000264037.2_Silent_p.Y444Y			O75443	TECTA_HUMAN	tectorin alpha	444	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y444Y(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCAGCACTACGCCTCCATTT	0.488																																							uc010rzo.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1330-1332)TAC>TAT		tectorin alpha precursor							238.0	254.0	249.0					11																	120996139		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996139C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1332C>T	11.37:g.120996139C>T							p.Y444Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1332	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	444			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1332C>T	CCDS8434.1																																																																																				0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		247	294	0	0	0	0.01441	0	247	294				
VWA5A	4013	broad.mit.edu	37	11	124007327	124007327	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:124007327G>C	ENST00000456829.2	+	14	1822	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.G524A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	524								p.G524A(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACACTCCAGGGCAAGACTTTT	0.433																																							uc001pzu.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1570-1572)GGC>GCC		BCSC-1 isoform 1							195.0	173.0	180.0					11																	124007327		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007327G>C	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1571G>C	11.37:g.124007327G>C	ENSP00000407726:p.Gly524Ala					VWA5A_uc001pzt.2_Missense_Mutation_p.G524A	p.G524A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			14	1780	+			524					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1571G>C	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984128	0.18889	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.05139	3.49;3.49	5.49	3.56	0.40772	.	0.268949	0.43110	D	0.000615	T	0.07728	0.0194	M	0.64260	1.97	0.21416	N	0.999697	P	0.38167	0.621	B	0.36335	0.222	T	0.21552	-1.0242	10	0.45353	T	0.12	-10.8521	7.288	0.26350	0.2842:0.0:0.7158:0.0	.	524	O00534	VMA5A_HUMAN	A	524	ENSP00000407726:G524A;ENSP00000376504:G524A	ENSP00000376504:G524A	G	+	2	0	VWA5A	123512537	0.996000	0.38824	0.394000	0.26270	0.086000	0.17979	1.749000	0.38319	0.626000	0.30322	0.650000	0.86243	GGC		0.433	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		86	92	0	0	0	0.01441	0	86	92				
IQSEC3	440073	broad.mit.edu	37	12	248332	248332	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:248332C>G	ENST00000538872.1	+	4	1921	c.1803C>G	c.(1801-1803)agC>agG	p.S601R	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S298R|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S601R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	601	Poly-Ser.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S601R(1)|p.S298R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCAGCAGCAGCACGTCCACCA	0.687																																							uc001qhw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(892-894)AGC>AGG		IQ motif and Sec7 domain 3							10.0	11.0	11.0					12																	248332		2169	4259	6428	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248332C>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1803C>G	12.37:g.248332C>G	ENSP00000437554:p.Ser601Arg					IQSEC3_uc001qhu.1_Missense_Mutation_p.S298R|IQSEC3_uc001qht.1_Missense_Mutation_p.S383R|uc001qhv.1_Intron	p.S298R	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	900	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		601			Poly-Ser.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.894C>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021458	0.75275	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.11604	2.76;2.76;2.83	4.17	4.17	0.49024	.	1.834780	0.02124	N	0.055830	T	0.36441	0.0967	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.01010	-1.1482	10	0.62326	D	0.03	.	10.3369	0.43854	0.0:0.9089:0.0:0.0911	.	601;298	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	R	601;601;298	ENSP00000437554:S601R;ENSP00000315662:S601R;ENSP00000372292:S298R	ENSP00000315662:S601R	S	+	3	2	IQSEC3	118593	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	3.174000	0.50847	2.169000	0.68431	0.561000	0.74099	AGC		0.687	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	3	0	0	0	0.00308	0	3	3				
CACNA1C	775	broad.mit.edu	37	12	2614019	2614019	+	Silent	SNP	C	C	G	rs1131652		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:2614019C>G	ENST00000347598.4	+	8	1125	c.1125C>G	c.(1123-1125)gcC>gcG	p.A375A	CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399597.1_Silent_p.A375A|CACNA1C_ENST00000344100.3_Silent_p.A375A|CACNA1C_ENST00000399591.1_Silent_p.A375A|CACNA1C_ENST00000399655.1_Silent_p.A375A|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399637.1_Silent_p.A375A|CACNA1C_ENST00000399595.1_Silent_p.A375A|CACNA1C_ENST00000399649.1_Silent_p.A375A|CACNA1C_ENST00000480911.1_Silent_p.A375A|CACNA1C_ENST00000335762.5_Silent_p.A375A|CACNA1C_ENST00000399606.1_Silent_p.A375A|CACNA1C_ENST00000399629.1_Silent_p.A375A|CACNA1C_ENST00000399638.1_Silent_p.A375A|CACNA1C_ENST00000399621.1_Silent_p.A375A|CACNA1C_ENST00000402845.3_Silent_p.A375A|CACNA1C_ENST00000399601.1_Silent_p.A375A|CACNA1C_ENST00000327702.7_Silent_p.A375A|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399644.1_Silent_p.A375A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	375					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A375A(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAATGATGCCGTAGGAAGGG	0.522																																							uc009zdu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)	11						c.(1123-1125)GCC>GCG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						98.0	99.0	99.0					12																	2614019		1977	4170	6147	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2614019C>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1125C>G	12.37:g.2614019C>G						CACNA1C_uc009zdv.1_Silent_p.A372A|CACNA1C_uc001qkb.2_Silent_p.A375A|CACNA1C_uc001qkc.2_Silent_p.A375A|CACNA1C_uc001qke.2_Silent_p.A375A|CACNA1C_uc001qkf.2_Silent_p.A375A|CACNA1C_uc001qjz.2_Silent_p.A375A|CACNA1C_uc001qkd.2_Silent_p.A375A|CACNA1C_uc001qkg.2_Silent_p.A375A|CACNA1C_uc009zdw.1_Silent_p.A375A|CACNA1C_uc001qkh.2_Silent_p.A375A|CACNA1C_uc001qkl.2_Silent_p.A375A|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Silent_p.A375A|CACNA1C_uc001qkp.2_Silent_p.A375A|CACNA1C_uc001qkr.2_Silent_p.A375A|CACNA1C_uc001qku.2_Silent_p.A375A|CACNA1C_uc001qkq.2_Silent_p.A375A|CACNA1C_uc001qks.2_Silent_p.A375A|CACNA1C_uc001qkt.2_Silent_p.A375A|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	p.A375A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1438	+			375			I.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1125C>G	CCDS44788.1																																																																																				0.522	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	37	0	0	0	0.004482	0	7	37				
GALNT8	26290	broad.mit.edu	37	12	4872447	4872447	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:4872447C>G	ENST00000252318.2	+	8	1725	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	463					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S463C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAGACGTTTCTTCCAGAATG	0.408																																					Colon(108;631 1558 7270 20097 39846)	Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1387-1389)TCT>TGT		polypeptide N-acetylgalactosaminyltransferase 8							81.0	85.0	84.0					12																	4872447		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4872447C>G	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1388C>G	12.37:g.4872447C>G	ENSP00000252318:p.Ser463Cys						p.S463C	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			8	1480	+			463			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1388C>G	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801643	0.70682	.	.	ENSG00000130035	ENST00000252318	T	0.55760	0.5	4.27	4.27	0.50696	.	0.082914	0.49916	D	0.000122	T	0.79627	0.4478	H	0.95224	3.64	0.42015	D	0.990951	D	0.89917	1.0	D	0.77557	0.99	D	0.86288	0.1672	10	0.87932	D	0	.	14.2139	0.65781	0.0:1.0:0.0:0.0	.	463	Q9NY28	GALT8_HUMAN	C	463	ENSP00000252318:S463C	ENSP00000252318:S463C	S	+	2	0	GALNT8	4742708	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.225000	0.78051	2.205000	0.71048	0.655000	0.94253	TCT		0.408	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		5	119	0	0	0	0.001168	0	5	119				
PLEKHA5	54477	broad.mit.edu	37	12	19501350	19501350	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:19501350C>G	ENST00000299275.6	+	19	2424	c.2418C>G	c.(2416-2418)ctC>ctG	p.L806L	PLEKHA5_ENST00000539256.1_Silent_p.L564L|PLEKHA5_ENST00000429027.2_Silent_p.L972L|PLEKHA5_ENST00000543806.1_Silent_p.L788L|PLEKHA5_ENST00000317589.4_Silent_p.L869L|PLEKHA5_ENST00000355397.3_Silent_p.L864L|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000538714.1_Silent_p.L864L|PLEKHA5_ENST00000424268.1_Silent_p.L795L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	806					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.L967L(1)|p.L806L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTATAGACTCTACAAGAGTG	0.338																																					Pancreas(196;329 2193 11246 14234 19524)	Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2416-2418)CTC>CTG		pleckstrin homology domain containing, family A							98.0	99.0	99.0					12																	19501350		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501350C>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2418C>G	12.37:g.19501350C>G						PLEKHA5_uc010sie.1_Silent_p.L967L|PLEKHA5_uc001rea.2_Silent_p.L864L|PLEKHA5_uc009zin.2_Silent_p.L564L|PLEKHA5_uc010sif.1_Silent_p.L795L|PLEKHA5_uc010sig.1_Silent_p.L788L|PLEKHA5_uc010sih.1_Silent_p.L761L|PLEKHA5_uc001rec.1_Silent_p.L615L|PLEKHA5_uc009zio.2_Intron	p.L806L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			19	2504	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		806					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.2418C>G	CCDS8682.1																																																																																				0.338	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		3	122	0	0	0	0.004672	0	3	122				
PYROXD1	79912	broad.mit.edu	37	12	21614019	21614019	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:21614019G>A	ENST00000240651.9	+	8	865	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000538582.1_Missense_Mutation_p.E200K	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	271							oxidoreductase activity (GO:0016491)	p.E271K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CCTTCAGGATGAGTTTAGAAT	0.294																																							uc001rew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GAG>AAG		pyridine nucleotide-disulphide oxidoreductase							44.0	50.0	48.0					12																	21614019		2203	4288	6491	SO:0001583	missense	79912						oxidoreductase activity	g.chr12:21614019G>A	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.811G>A	12.37:g.21614019G>A	ENSP00000240651:p.Glu271Lys					PYROXD1_uc009ziq.2_Missense_Mutation_p.E12K|PYROXD1_uc009zir.2_5'UTR	p.E271K	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN			8	938	+			271					A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	c.811G>A	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211187	0.58343	.	.	ENSG00000121350	ENST00000240651;ENST00000538582	.	.	.	5.0	4.1	0.47936	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.76574	2.34	0.80722	D	1	D	0.60160	0.987	P	0.62089	0.898	T	0.72017	-0.4417	9	0.19590	T	0.45	.	14.0769	0.64895	0.0:0.0:0.848:0.1519	.	271	Q8WU10	PYRD1_HUMAN	K	271;200	.	ENSP00000240651:E271K	E	+	1	0	PYROXD1	21505286	1.000000	0.71417	0.999000	0.59377	0.075000	0.17131	6.686000	0.74548	1.224000	0.43551	-0.188000	0.12872	GAG		0.294	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		7	37	0	0	0	0.00308	0	7	37				
NELL2	4753	broad.mit.edu	37	12	45169914	45169914	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:45169914C>T	ENST00000429094.2	-	8	1286	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	NELL2_ENST00000333837.4_Missense_Mutation_p.R284Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R260Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R260Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R260Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R311Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R261Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	261						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R261Q(1)|p.R311Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTATTCATTCGCTGTTCAGC	0.453																																							uc001rog.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(781-783)CGA>CAA		NEL-like protein 2 isoform b precursor							156.0	130.0	139.0					12																	45169914		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169914C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.782G>A	12.37:g.45169914C>T	ENSP00000390680:p.Arg261Gln					NELL2_uc001rof.3_Missense_Mutation_p.R260Q|NELL2_uc001roh.2_Missense_Mutation_p.R261Q|NELL2_uc009zkd.2_Missense_Mutation_p.R260Q|NELL2_uc010skz.1_Missense_Mutation_p.R311Q|NELL2_uc010sla.1_Missense_Mutation_p.R284Q|NELL2_uc001roi.1_Missense_Mutation_p.R261Q|NELL2_uc010slb.1_Missense_Mutation_p.R260Q|NELL2_uc001roj.2_Missense_Mutation_p.R261Q	p.R261Q	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1377	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	261					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.782G>A	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.793424|3.793424	0.70452|0.70452	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000550313|ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	.|D;D;T;D;D;D;D;T;T	.|0.83419	.|-1.67;-1.64;-1.33;-1.64;-1.67;-1.6;-1.72;1.55;2.55	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.053917	.|0.64402	.|D	.|0.000001	D|D	0.88009|0.88009	0.6322|0.6322	L|L	0.39245|0.39245	1.2|1.2	0.44123|0.44123	D|D	0.996906|0.996906	.|D;B;B;D;B;B	.|0.76494	.|0.999;0.343;0.121;0.961;0.074;0.343	.|D;B;B;B;B;B	.|0.72625	.|0.978;0.091;0.028;0.397;0.013;0.091	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.42905	.|T	.|0.14	-10.1952|-10.1952	19.6425|19.6425	0.95763|0.95763	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284;311;260;261;261;260	.|B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.|.;.;.;.;NELL2_HUMAN;.	K|Q	10|260;261;260;261;260;284;311;260;34;261	.|ENSP00000378866:R260Q;ENSP00000390680:R261Q;ENSP00000449332:R260Q;ENSP00000394612:R261Q;ENSP00000447927:R260Q;ENSP00000327988:R284Q;ENSP00000416341:R311Q;ENSP00000450102:R34Q;ENSP00000447085:R261Q	.|ENSP00000327988:R284Q	E|R	-|-	1|2	0|0	NELL2|NELL2	43456181|43456181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.765000|2.765000	0.47621|0.47621	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		5	86	0	0	0	0.001168	0	5	86				
DDX23	9416	broad.mit.edu	37	12	49231355	49231355	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:49231355C>T	ENST00000308025.3	-	7	784	c.705G>A	c.(703-705)caG>caA	p.Q235Q	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	235	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.Q235Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCGGATCTTCTGCCGCCCTT	0.517																																							uc001rsm.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(703-705)CAG>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							249.0	191.0	210.0					12																	49231355		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49231355C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.705G>A	12.37:g.49231355C>T							p.Q235Q	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			7	796	-			235			Glu-rich.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.705G>A	CCDS8770.1																																																																																				0.517	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		10	117	0	0	0	0.006214	0	10	117				
LARP4	113251	broad.mit.edu	37	12	50829374	50829374	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:50829374A>G	ENST00000398473.2	+	5	614	c.502A>G	c.(502-504)Aca>Gca	p.T168A	LARP4_ENST00000293618.8_Missense_Mutation_p.T168A|LARP4_ENST00000518561.1_Missense_Mutation_p.T98A|LARP4_ENST00000347328.5_Missense_Mutation_p.T168A|LARP4_ENST00000518444.1_Missense_Mutation_p.T167A|LARP4_ENST00000522085.1_Missense_Mutation_p.T168A|LARP4_ENST00000429001.3_Missense_Mutation_p.T174A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	168	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.T168A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGTTGACTACAGACCCTGA	0.294																																							uc001rwp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)ACA>GCA		c-Mpl binding protein isoform a							96.0	93.0	94.0					12																	50829374		1813	4068	5881	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50829374A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.502A>G	12.37:g.50829374A>G	ENSP00000381490:p.Thr168Ala					LARP4_uc001rwo.1_Missense_Mutation_p.T174A|LARP4_uc001rwq.1_Missense_Mutation_p.T168A|LARP4_uc001rwr.1_Missense_Mutation_p.T168A|LARP4_uc001rws.1_Missense_Mutation_p.T167A|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.T168A|LARP4_uc001rwn.2_Missense_Mutation_p.T98A	p.T168A	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			5	646	+			168			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.502A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908297	0.92107	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.49	5.49	0.81192	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	L	0.58510	1.815	0.80722	D	1	P;D;B;P;P	0.71674	0.725;0.998;0.202;0.786;0.721	P;D;B;P;B	0.80764	0.557;0.994;0.211;0.731;0.281	T	0.64076	-0.6492	10	0.72032	D	0.01	.	15.5612	0.76249	1.0:0.0:0.0:0.0	.	167;168;168;168;174	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	A	168;174;98;168;98;168;168;167;167;98;168;166	ENSP00000293618:T168A;ENSP00000415464:T174A;ENSP00000446966:T98A;ENSP00000381490:T168A;ENSP00000429781:T168A;ENSP00000429077:T167A;ENSP00000447408:T167A;ENSP00000430851:T98A;ENSP00000340901:T168A;ENSP00000448756:T166A	ENSP00000293618:T168A	T	+	1	0	LARP4	49115641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.265000	0.78442	2.216000	0.71823	0.459000	0.35465	ACA		0.294	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		35	70	0	0	0	0.004289	0	35	70				
KRT73	319101	broad.mit.edu	37	12	53012171	53012171	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:53012171C>G	ENST00000305748.3	-	1	172	c.138G>C	c.(136-138)cgG>cgC	p.R46R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	46	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R46R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAAAGGCTCCGACTGCTGA	0.662																																							uc001sas.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(136-138)CGG>CGC		keratin 73							54.0	63.0	60.0					12																	53012171		2203	4299	6502	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53012171C>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.138G>C	12.37:g.53012171C>G							p.R46R	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	173	-			46			Head.|Gly-rich.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.138G>C	CCDS8834.1																																																																																				0.662	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		4	132	0	0	0	0.001168	0	4	132				
KRT4	3851	broad.mit.edu	37	12	53202129	53202129	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:53202129G>A	ENST00000551956.1	-	6	1566	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	KRT4_ENST00000293774.4_Silent_p.L432L|KRT4_ENST00000458244.2_Silent_p.L338L			P19013	K2C4_HUMAN	keratin 4	372	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L432L(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCATCCTGTTGAGCTCTGCAA	0.537																																					Pancreas(190;284 2995 41444 45903)	Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(1294-1296)CTC>CTT		keratin 4							150.0	153.0	152.0					12																	53202129		2199	4300	6499	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202129G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1074C>T	12.37:g.53202129G>A							p.L432L	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			6	1567	-			358					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.1296C>T	CCDS41787.2																																																																																				0.537	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		68	169	0	0	0	0.01441	0	68	169				
OR6C1	390321	broad.mit.edu	37	12	55714574	55714574	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:55714574T>C	ENST00000379668.2	+	1	229	c.191T>C	c.(190-192)tTc>tCc	p.F64S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F64S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGAAATTTCTCCATATTA	0.403																																							uc010spi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(190-192)TTC>TCC		olfactory receptor, family 6, subfamily C,							59.0	59.0	59.0					12																	55714574		2203	4300	6503	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714574T>C	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.191T>C	12.37:g.55714574T>C	ENSP00000368990:p.Phe64Ser						p.F64S	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	191	+			64			Helical; Name=2; (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.191T>C	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	21.7	4.183222	0.78677	.	.	ENSG00000205330	ENST00000379668	T	0.01464	4.86	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.12689	0.0308	M	0.90870	3.155	0.44736	D	0.997738	D	0.62365	0.991	D	0.65874	0.939	T	0.00460	-1.1726	10	0.87932	D	0	.	13.3885	0.60809	0.0:0.0:0.0:1.0	.	64	Q96RD1	OR6C1_HUMAN	S	64	ENSP00000368990:F64S	ENSP00000368990:F64S	F	+	2	0	OR6C1	54000841	0.854000	0.29725	0.997000	0.53966	0.975000	0.68041	5.662000	0.68032	2.026000	0.59711	0.374000	0.22700	TTC		0.403	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		15	48	0	0	0	0.003163	0	15	48				
ZFC3H1	196441	broad.mit.edu	37	12	72036255	72036255	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:72036255C>T	ENST00000378743.3	-	6	1946	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	530					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E530K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATAGCAACTTCTTCATAGTTA	0.368																																							uc001swo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1588-1590)GAA>AAA		proline/serine-rich coiled-coil 2							173.0	157.0	162.0					12																	72036255		1854	4096	5950	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036255C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1588G>A	12.37:g.72036255C>T	ENSP00000368017:p.Glu530Lys						p.E530K	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			6	1947	-			530					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1588G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399637	0.96030	.	.	ENSG00000133858	ENST00000378743	T	0.57273	0.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.60454	-0.7260	10	0.38643	T	0.18	.	19.3701	0.94480	0.0:1.0:0.0:0.0	.	530	O60293	ZC3H1_HUMAN	K	530	ENSP00000368017:E530K	ENSP00000368017:E530K	E	-	1	0	ZFC3H1	70322522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.923000	0.75817	2.596000	0.87737	0.555000	0.69702	GAA		0.368	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		40	113	0	0	0	0.006999	0	40	113				
ZFC3H1	196441	broad.mit.edu	37	12	72050808	72050808	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:72050808G>A	ENST00000378743.3	-	2	1230	c.872C>T	c.(871-873)aCa>aTa	p.T291I	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.T291I|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.T291I	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	291					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T291I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGACTTGTGTTTTCTCCTC	0.363																																							uc001swo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(871-873)ACA>ATA		proline/serine-rich coiled-coil 2							143.0	132.0	135.0					12																	72050808		1824	4076	5900	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72050808G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.872C>T	12.37:g.72050808G>A	ENSP00000368017:p.Thr291Ile					ZFC3H1_uc010sts.1_Missense_Mutation_p.T291I|ZFC3H1_uc001swp.2_Missense_Mutation_p.T291I	p.T291I	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			2	1231	-			291					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.872C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336848	0.41398	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.30714	1.52	5.85	2.76	0.32466	.	0.543531	0.17426	N	0.174642	T	0.15349	0.0370	N	0.08118	0	0.24069	N	0.995987	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.17992	-1.0351	10	0.46703	T	0.11	.	8.956	0.35818	0.1532:0.0:0.685:0.1618	.	291;291;291	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	I	291	ENSP00000368017:T291I	ENSP00000368017:T291I	T	-	2	0	ZFC3H1	70337075	0.996000	0.38824	0.988000	0.46212	0.995000	0.86356	1.808000	0.38912	0.833000	0.34828	0.655000	0.94253	ACA		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		32	105	0	0	0	0.010818	0	32	105				
NAV3	89795	broad.mit.edu	37	12	78562616	78562616	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:78562616G>T	ENST00000397909.2	+	24	5124	c.4951G>T	c.(4951-4953)Gca>Tca	p.A1651S	NAV3_ENST00000266692.7_Missense_Mutation_p.A1474S|NAV3_ENST00000536525.2_Missense_Mutation_p.A1651S|NAV3_ENST00000228327.6_Missense_Mutation_p.A1651S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1651						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A1651S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATTCAGGGAGCACTGAATGG	0.373										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4951-4953)GCA>TCA		neuron navigator 3							77.0	78.0	78.0					12																	78562616		1830	4072	5902	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562616G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4951G>T	12.37:g.78562616G>T	ENSP00000381007:p.Ala1651Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A1651S|NAV3_uc010sub.1_Missense_Mutation_p.A1137S|NAV3_uc009zsf.2_Missense_Mutation_p.A482S	p.A1651S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			24	5124	+			1651			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4951G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893246|4.893246	0.91889|0.91889	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.93366|.	-3.21;-3.21;-3.21;-3.21;-3.21|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.39834|.	U|.	0.001249|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	P;P;B;D|.	0.53619|.	0.616;0.59;0.188;0.961|.	B;B;B;P|.	0.49597|.	0.211;0.282;0.032;0.616|.	T|T	0.73065|0.73065	-0.4100|-0.4100	10|5	0.52906|.	T|.	0.07|.	-17.7105|-17.7105	19.559|19.559	0.95364|0.95364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1651;1474;1651;1651|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|I	1651;1651;1651;1474;272;280|545	ENSP00000446132:A1651S;ENSP00000381007:A1651S;ENSP00000228327:A1651S;ENSP00000266692:A1474S;ENSP00000448303:A280S|.	ENSP00000228327:A1651S|.	A|S	+|+	1|2	0|0	NAV3|NAV3	77086747|77086747	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.977000|0.977000	0.68977|0.68977	9.772000|9.772000	0.98984|0.98984	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	16	1	0	6.42651e-13	0.010729	7.37706e-13	10	16				
HVCN1	84329	broad.mit.edu	37	12	111099152	111099152	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:111099152G>A	ENST00000356742.5	-	3	876	c.123C>T	c.(121-123)aaC>aaT	p.N41N	HVCN1_ENST00000548312.1_Silent_p.N41N|HVCN1_ENST00000439744.2_Silent_p.N21N|HVCN1_ENST00000242607.8_Silent_p.N41N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	41					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.N41N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATTTCTTGTAGTTGATGTTCC	0.587																																							uc001trs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(121-123)AAC>AAT		hydrogen voltage-gated channel 1							73.0	68.0	70.0					12																	111099152		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099152G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.123C>T	12.37:g.111099152G>A						HVCN1_uc001trq.1_Silent_p.N41N|HVCN1_uc001trt.1_Silent_p.N41N|HVCN1_uc010syd.1_Silent_p.N21N	p.N41N	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	288	-			41			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.123C>T	CCDS31900.1																																																																																				0.587	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		19	61	0	0	0	0.012319	0	19	61				
RBM19	9904	broad.mit.edu	37	12	114358414	114358414	+	Splice_Site	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:114358414A>C	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000261741.5_Splice_Site|RBM19_ENST00000392561.3_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					tcTTCACTTTACCTGGAGCTG	0.522																																							uc009zwi.2		NA																	1	Unknown(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.e19+1		RNA binding motif protein 19							240.0	240.0	240.0					12																	114358414		2203	4300	6503	SO:0001630	splice_region_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114358414A>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2385+1T>G	12.37:g.114358414A>C						RBM19_uc001tvn.3_Splice_Site_p.Q795_splice|RBM19_uc001tvm.2_Splice_Site_p.Q795_splice	p.Q795_splice	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			19	2529	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)							A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	SNP	ENST00000545145.2	37	c.2385_splice	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009651	0.54361	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2724	0.54714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM19	112842797	1.000000	0.71417	0.981000	0.43875	0.545000	0.35147	5.503000	0.66962	1.883000	0.54544	0.379000	0.24179	.		0.522	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Intron	7	707	0	0	0	0.00245	0	7	707				
CABP1	9478	broad.mit.edu	37	12	121098634	121098634	+	Silent	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:121098634T>A	ENST00000316803.3	+	4	1064	c.930T>A	c.(928-930)gcT>gcA	p.A310A	CABP1_ENST00000453000.1_Silent_p.A246A|CABP1_ENST00000351200.2_Silent_p.A107A|CABP1_ENST00000288616.3_Silent_p.A167A	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	310	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.A310A(1)|p.A167A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGAGATGCTTTCCGAGAGG	0.498																																							uc001tyu.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(928-930)GCT>GCA		calcium binding protein 1 isoform 3							135.0	131.0	133.0					12																	121098634		2203	4300	6503	SO:0001819	synonymous_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098634T>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.930T>A	12.37:g.121098634T>A						CABP1_uc001tyv.2_Silent_p.A167A|CABP1_uc001tyw.2_Silent_p.A107A|CABP1_uc001tyx.2_Silent_p.A152A	p.A310A	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			4	997	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		310			EF-hand 3.		O95663|Q8N6H5|Q9NZU8	Silent	SNP	ENST00000316803.3	37	c.930T>A	CCDS31913.1																																																																																				0.498	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		68	197	0	0	0	0.01441	0	68	197				
TMEM132B	114795	broad.mit.edu	37	12	126138528	126138528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:126138528C>T	ENST00000299308.3	+	9	2517	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P349S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	837						integral component of membrane (GO:0016021)		p.P837S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCGTGGCACACCTGTTGGCCA	0.493																																							uc001uhe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2509-2511)CCT>TCT		transmembrane protein 132B							64.0	65.0	65.0					12																	126138528		1991	4142	6133	SO:0001583	missense	114795					integral to membrane		g.chr12:126138528C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2509C>T	12.37:g.126138528C>T	ENSP00000299308:p.Pro837Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.P349S	p.P837S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2517	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		837			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2509C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.201550	0.00296	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.08458	3.89;3.09	5.54	-9.97	0.00440	.	0.704839	0.13344	N	0.394924	T	0.01800	0.0057	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.06365	T	0.9	.	10.8574	0.46806	0.0:0.4798:0.2396:0.2806	.	837	Q14DG7	T132B_HUMAN	S	837;349	ENSP00000299308:P837S;ENSP00000440436:P349S	ENSP00000299308:P837S	P	+	1	0	TMEM132B	124704481	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.188000	0.17018	-2.415000	0.00568	-1.437000	0.01076	CCT		0.493	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	81	0	0	0	0.009096	0	4	81				
GPC6	10082	broad.mit.edu	37	13	94482698	94482698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:94482698C>A	ENST00000377047.4	+	3	1226	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	204					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P204H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGAGACGTGCCCCGGAAACTG	0.512																																							uc001vlt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(610-612)CCC>CAC		glypican 6 precursor							73.0	69.0	71.0					13																	94482698		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482698C>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.611C>A	13.37:g.94482698C>A	ENSP00000366246:p.Pro204His					GPC6_uc010tig.1_Missense_Mutation_p.P204H|GPC6_uc001vlu.1_Missense_Mutation_p.P134H	p.P204H	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			3	1243	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	204					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.611C>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821443	0.90873	.	.	ENSG00000183098	ENST00000377047	D	0.81579	-1.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.976;1.0	D	0.93676	0.6994	10	0.62326	D	0.03	.	19.8022	0.96513	0.0:1.0:0.0:0.0	.	204;204	B4E2M1;Q9Y625	.;GPC6_HUMAN	H	204	ENSP00000366246:P204H	ENSP00000366246:P204H	P	+	2	0	GPC6	93280699	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.442000	0.80503	2.771000	0.95319	0.644000	0.83932	CCC		0.512	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		9	36	1	0	2.17888e-05	0.006214	2.30136e-05	9	36				
ABCC4	10257	broad.mit.edu	37	13	95724037	95724037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:95724037C>A	ENST00000376887.4	-	25	3203	c.3089G>T	c.(3088-3090)cGc>cTc	p.R1030L	ABCC4_ENST00000412704.1_Missense_Mutation_p.R983L|ABCC4_ENST00000474158.1_5'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1030					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1030L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGGTGGTGGGCGTTTCTGATA	0.463																																							uc001vmd.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|skin(1)	4						c.(3088-3090)CGC>CTC		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						198.0	185.0	189.0					13																	95724037		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95724037C>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3089G>T	13.37:g.95724037C>A	ENSP00000366084:p.Arg1030Leu					ABCC4_uc010afk.2_Missense_Mutation_p.R983L	p.R1030L	NM_005845	NP_005836	O15439	MRP4_HUMAN			25	3208	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1030					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3089G>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770106	0.31320	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90900	-2.75;-2.75	5.53	3.73	0.42828	.	0.348665	0.33813	N	0.004531	D	0.83774	0.5327	L	0.31157	0.91	0.80722	D	1	B;B	0.22276	0.067;0.024	B;B	0.27076	0.076;0.02	T	0.80236	-0.1466	10	0.72032	D	0.01	.	7.0236	0.24928	0.0:0.5825:0.2631:0.1543	.	983;1030	O15439-2;O15439	.;MRP4_HUMAN	L	983;1030	ENSP00000388657:R983L;ENSP00000366084:R1030L	ENSP00000366084:R1030L	R	-	2	0	ABCC4	94522038	0.082000	0.21442	0.991000	0.47740	0.206000	0.24218	0.522000	0.22909	1.336000	0.45506	0.650000	0.86243	CGC		0.463	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		36	109	1	0	2.40579e-17	0.00623	2.85338e-17	36	109				
TMTC4	84899	broad.mit.edu	37	13	101257341	101257341	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:101257341G>C	ENST00000376234.3	-	18	2322	c.2133C>G	c.(2131-2133)atC>atG	p.I711M	TMTC4_ENST00000342624.5_Missense_Mutation_p.I730M|TMTC4_ENST00000328767.5_Missense_Mutation_p.I600M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	711						integral component of membrane (GO:0016021)		p.I730I(2)|p.I730M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCAAGGAGATTTCATAGT	0.433																																							uc001vou.2		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		cervix(1)|large_intestine(1)|lung(1)	ovary(2)|breast(1)	3						c.(2131-2133)ATC>ATG		transmembrane and tetratricopeptide repeat							273.0	241.0	252.0					13																	101257341		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257341G>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2133C>G	13.37:g.101257341G>C	ENSP00000365408:p.Ile711Met					TMTC4_uc001vot.2_Missense_Mutation_p.I730M|TMTC4_uc010tja.1_Missense_Mutation_p.I600M	p.I711M	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			18	2293	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		711			TPR 8.		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2133C>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115389	0.37339	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.51071	0.72;0.72;0.72	6.15	4.35	0.52113	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.225951	0.47455	D	0.000227	T	0.32102	0.0818	N	0.17474	0.49	0.48040	D	0.999574	B;B;B	0.19073	0.033;0.004;0.008	B;B;B	0.17979	0.02;0.02;0.015	T	0.12344	-1.0551	10	0.48119	T	0.1	.	12.0106	0.53284	0.065:0.1215:0.8135:0.0	.	600;711;730	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	M	711;730;600	ENSP00000365408:I711M;ENSP00000343871:I730M;ENSP00000365409:I600M	ENSP00000365409:I600M	I	-	3	3	TMTC4	100055342	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.201000	0.42734	1.625000	0.50366	-0.149000	0.13747	ATC		0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		28	133	0	0	0	0.00632	0	28	133				
MYH7	4625	broad.mit.edu	37	14	23900998	23900998	+	Missense_Mutation	SNP	C	C	T	rs397516260		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:23900998C>T	ENST00000355349.3	-	7	773	c.611G>A	c.(610-612)cGc>cAc	p.R204H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin motor.		R -> H (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R204H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCTTGCTGCGGTCCCCAAT	0.572																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4	GRCh37	CM031267	MYH7	M		c.(610-612)CGC>CAC		myosin, heavy chain 7, cardiac muscle, beta							111.0	101.0	105.0					14																	23900998		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900998C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.611G>A	14.37:g.23900998C>T	ENSP00000347507:p.Arg204His						p.R204H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	7	717	-	all_cancers(95;2.54e-05)		204		R -> H (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.611G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387536	0.61956	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87650	-2.28	3.12	3.12	0.35913	Myosin head, motor domain (2);	.	.	.	.	D	0.82986	0.5156	L	0.27053	0.805	0.42767	D	0.993821	D	0.53619	0.961	P	0.47528	0.549	D	0.85868	0.1414	9	0.72032	D	0.01	.	14.3252	0.66515	0.0:1.0:0.0:0.0	.	204	P12883	MYH7_HUMAN	H	204	ENSP00000347507:R204H	ENSP00000347507:R204H	R	-	2	0	MYH7	22970838	0.834000	0.29399	1.000000	0.80357	0.897000	0.52465	2.190000	0.42630	1.754000	0.51921	0.305000	0.20034	CGC		0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		34	133	0	0	0	0.01441	0	34	133				
DPPA3P2	400206	broad.mit.edu	37	14	36840725	36840725	+	RNA	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:36840725C>T	ENST00000557188.1	+	0	356									developmental pluripotency associated 3 pseudogene 2									p.T36M(1)									TCCTCCGAGACGTTGATAAAG	0.488																																							uc001wtp.2		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(106-108)ACG>ATG		stella																																						0							g.chr14:36840725C>T			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840725C>T							p.T36M	NM_199286	NP_954980					1	356	+									Missense_Mutation	SNP	ENST00000557188.1	37	c.107C>T																																																																																					0.488	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			5	31	0	0	0	0.001168	0	5	31				
LRFN5	145581	broad.mit.edu	37	14	42355929	42355929	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:42355929C>A	ENST00000298119.4	+	3	1290	c.101C>A	c.(100-102)gCa>gAa	p.A34E	LRFN5_ENST00000554171.1_Missense_Mutation_p.A34E|LRFN5_ENST00000554120.1_Missense_Mutation_p.A34E	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	34	LRRNT.					integral component of membrane (GO:0016021)		p.A34E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTAATCTTGCAACCCTTTGT	0.378										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(100-102)GCA>GAA		leucine rich repeat and fibronectin type III							82.0	74.0	77.0					14																	42355929		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355929C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.101C>A	14.37:g.42355929C>A	ENSP00000298119:p.Ala34Glu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.A34E	p.A34E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1299	+			34			Extracellular (Potential).|LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.101C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310751	0.60414	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.50277	0.89;0.75;0.75	5.43	5.43	0.79202	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000029	T	0.61274	0.2334	L	0.57536	1.79	0.58432	D	0.999996	D;P	0.53619	0.961;0.944	P;P	0.57009	0.811;0.696	T	0.63550	-0.6612	10	0.66056	D	0.02	.	16.7348	0.85444	0.0:1.0:0.0:0.0	.	34;34	G3V364;Q96NI6	.;LRFN5_HUMAN	E	34	ENSP00000298119:A34E;ENSP00000451897:A34E;ENSP00000451067:A34E	ENSP00000298119:A34E	A	+	2	0	LRFN5	41425679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.526000	0.85167	0.557000	0.71058	GCA		0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	44	1	0	0.000151284	0.001855	0.000158383	12	44				
NEMF	9147	broad.mit.edu	37	14	50307515	50307515	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:50307515C>T	ENST00000298310.5	-	5	876	c.427G>A	c.(427-429)Gat>Aat	p.D143N	NEMF_ENST00000545773.1_Missense_Mutation_p.D101N|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.D143N|RNU6-539P_ENST00000516665.1_RNA			O60524	NEMF_HUMAN	nuclear export mediator factor	143					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.D143N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTAACATCATCTGCCTCATCA	0.343																																							uc001wxc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GAT>AAT		serologically defined colon cancer antigen 1							102.0	94.0	97.0					14																	50307515		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50307515C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.427G>A	14.37:g.50307515C>T	ENSP00000298310:p.Asp143Asn					SDCCAG1_uc010anj.1_Missense_Mutation_p.D143N|SDCCAG1_uc010tqi.1_Missense_Mutation_p.D143N|SDCCAG1_uc001wxe.2_Missense_Mutation_p.D101N|SDCCAG1_uc010anq.1_Intron	p.D143N	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	5	495	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	143					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.427G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422426	0.83559	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.49	5.49	0.81192	Fibronectin-binding A, N-terminal (1);	0.053925	0.85682	D	0.000000	T	0.49660	0.1570	L	0.47716	1.5	0.80722	D	1	B;P;P;B	0.39940	0.006;0.552;0.696;0.452	B;B;B;P	0.48334	0.026;0.34;0.438;0.574	T	0.32771	-0.9894	10	0.33141	T	0.24	-9.8465	18.9469	0.92625	0.0:1.0:0.0:0.0	.	143;143;101;143	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	N	143;101;143;101;101	ENSP00000298310:D143N;ENSP00000438309:D101N;ENSP00000441016:D143N;ENSP00000452540:D101N	ENSP00000298310:D143N	D	-	1	0	NEMF	49377265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.013000	0.76373	2.573000	0.86826	0.591000	0.81541	GAT		0.343	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		6	87	0	0	0	0.00308	0	6	87				
PSEN1	5663	broad.mit.edu	37	14	73653563	73653563	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:73653563C>T	ENST00000324501.5	+	6	755	c.483C>T	c.(481-483)gtC>gtT	p.V161V	PSEN1_ENST00000344094.3_Silent_p.V161V|PSEN1_ENST00000406768.1_Silent_p.V69V|PSEN1_ENST00000357710.4_Silent_p.V157V|PSEN1_ENST00000557511.1_Silent_p.V161V|PSEN1_ENST00000394164.1_Silent_p.V157V|PSEN1_ENST00000261970.3_Silent_p.V161V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	161					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.V161V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTTTCTAGGTCATCCATGCCT	0.333																																							uc001xnr.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|kidney(1)	2						c.(481-483)GTC>GTT		presenilin 1 isoform I-467							242.0	228.0	233.0					14																	73653563		2202	4300	6502	SO:0001819	synonymous_variant	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73653563C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.483C>T	14.37:g.73653563C>T						PSEN1_uc001xnv.2_Silent_p.V157V|PSEN1_uc010ark.2_Silent_p.V157V|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|uc010ttv.1_5'Flank	p.V161V	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	6	767	+			161			Helical; (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	ENST00000324501.5	37	c.483C>T	CCDS9812.1																																																																																				0.333	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			6	308	0	0	0	0.004482	0	6	308				
TC2N	123036	broad.mit.edu	37	14	92249542	92249542	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:92249542C>T	ENST00000435962.2	-	12	1698	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	TC2N_ENST00000556018.1_Missense_Mutation_p.E395K|TC2N_ENST00000340892.5_Missense_Mutation_p.E459K|TC2N_ENST00000360594.5_Missense_Mutation_p.E459K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	459					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.E395K(1)|p.E459K(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTACTGTCTTCACTTATCCAA	0.328																																							uc001xzu.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1375-1377)GAA>AAA		tandem C2 domains, nuclear							194.0	179.0	185.0					14																	92249542		2202	4299	6501	SO:0001583	missense	123036					nucleus		g.chr14:92249542C>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1375G>A	14.37:g.92249542C>T	ENSP00000387882:p.Glu459Lys					TC2N_uc001xzt.3_Missense_Mutation_p.E459K|TC2N_uc010auc.2_Missense_Mutation_p.E395K|TC2N_uc001xzv.3_Missense_Mutation_p.E459K	p.E459K	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	12	1566	-			459						Missense_Mutation	SNP	ENST00000435962.2	37	c.1375G>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	7.287	0.610189	0.14066	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.13420	3.45;3.45;3.45;2.59;2.81	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.476135	0.25875	N	0.027728	T	0.10337	0.0253	N	0.24115	0.695	0.21184	N	0.999766	P;P	0.52692	0.955;0.454	P;B	0.50270	0.636;0.053	T	0.23797	-1.0178	10	0.06365	T	0.9	-24.171	5.7082	0.17921	0.1759:0.6718:0.0:0.1523	.	395;459	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	459;459;459;395;211	ENSP00000387882:E459K;ENSP00000343199:E459K;ENSP00000353802:E459K;ENSP00000451317:E395K;ENSP00000450922:E211K	ENSP00000343199:E459K	E	-	1	0	TC2N	91319295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	2.635000	0.89317	0.650000	0.86243	GAA		0.328	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		5	75	0	0	0	0.000602	0	5	75				
SERPINA4	5267	broad.mit.edu	37	14	95034512	95034512	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:95034512T>G	ENST00000557004.1	+	4	1391	c.970T>G	c.(970-972)Tct>Gct	p.S324A	SERPINA4_ENST00000555095.1_Missense_Mutation_p.S324A|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S324A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	324					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)	p.S324A(1)		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)		GTTCTCCATTTCTGGCTCCTA	0.443																																							uc001ydk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(970-972)TCT>GCT		serine (or cysteine) proteinase inhibitor, clade							124.0	125.0	125.0					14																	95034512		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034512T>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.970T>G	14.37:g.95034512T>G	ENSP00000450838:p.Ser324Ala					SERPINA4_uc010avd.2_Missense_Mutation_p.S361A|SERPINA4_uc001ydl.2_Missense_Mutation_p.S324A	p.S324A	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1036	+			324					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.970T>G	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201611	0.58234	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83992	-1.79;-1.79;-1.79	5.45	4.28	0.50868	Serpin domain (3);	0.263001	0.27640	N	0.018461	D	0.89143	0.6631	M	0.78801	2.425	0.80722	D	1	D;P	0.63880	0.993;0.939	D;P	0.67382	0.951;0.873	D	0.88518	0.3094	10	0.66056	D	0.02	.	9.2781	0.37711	0.2877:0.0:0.0:0.7122	.	324;324	B2R815;P29622	.;KAIN_HUMAN	A	324	ENSP00000450838:S324A;ENSP00000451172:S324A;ENSP00000298841:S324A	ENSP00000298841:S324A	S	+	1	0	SERPINA4	94104265	0.000000	0.05858	0.663000	0.29738	0.800000	0.45204	-0.375000	0.07475	0.879000	0.35944	0.533000	0.62120	TCT		0.443	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		44	262	0	0	0	0.01441	0	44	262				
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:96949491G>A	ENST00000267584.4	+	16	1953	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Glu-rich.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E637K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGCTGCTGAGGAAGCAGAACG	0.567																																							uc001yfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1909-1911)GAA>AAA		adenylate kinase 7							83.0	59.0	67.0					14																	96949491		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96949491G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1909G>A	14.37:g.96949491G>A	ENSP00000267584:p.Glu637Lys						p.E637K	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	16	1953	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	637			Potential.|Glu-rich.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1909G>A	CCDS9945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.588|5.588	0.293328|0.293328	0.10567|0.10567	.|.	.|.	ENSG00000140057|ENSG00000140057	ENST00000267584|ENST00000554706	T|.	0.55052|.	0.54|.	5.41|5.41	2.49|2.49	0.30216|0.30216	.|.	0.445400|.	0.27084|.	N|.	0.021015|.	T|T	0.32164|0.32164	0.0820|0.0820	N|N	0.13272|0.13272	0.32|0.32	0.45634|0.45634	D|D	0.998569|0.998569	B|.	0.02656|.	0.0|.	B|.	0.15052|.	0.012|.	T|T	0.04178|0.04178	-1.0971|-1.0971	10|5	0.13108|.	T|.	0.6|.	-17.1481|-17.1481	4.2443|4.2443	0.10663|0.10663	0.3879:0.1646:0.4474:0.0|0.3879:0.1646:0.4474:0.0	.|.	637|.	Q96M32|.	KAD7_HUMAN|.	K|E	637|58	ENSP00000267584:E637K|.	ENSP00000267584:E637K|.	E|G	+|+	1|2	0|0	AK7|AK7	96019244|96019244	0.808000|0.808000	0.29022|0.29022	0.008000|0.008000	0.14137|0.14137	0.391000|0.391000	0.30476|0.30476	0.212000|0.212000	0.17497|0.17497	0.228000|0.228000	0.21019|0.21019	-0.143000|-0.143000	0.13931|0.13931	GAA|GGA		0.567	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			5	22	0	0	0	0.000602	0	5	22				
WARS	7453	broad.mit.edu	37	14	100820874	100820874	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:100820874T>G	ENST00000355338.2	-	5	1070	c.452A>C	c.(451-453)gAa>gCa	p.E151A	WARS_ENST00000392882.2_Missense_Mutation_p.E151A|WARS_ENST00000556645.1_Missense_Mutation_p.E110A|WARS_ENST00000344102.5_Missense_Mutation_p.E110A|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.E110A|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.E151A	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	151					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.E151A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCTTATTTTCATAGGCATC	0.393																																							uc001yhf.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(451-453)GAA>GCA		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						64.0	67.0	66.0					14																	100820874		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100820874T>G	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.452A>C	14.37:g.100820874T>G	ENSP00000347495:p.Glu151Ala					WARS_uc001yhe.1_5'Flank|WARS_uc001yhg.1_Missense_Mutation_p.E151A|WARS_uc001yhh.1_Missense_Mutation_p.E151A|WARS_uc001yhi.1_Missense_Mutation_p.E110A|WARS_uc001yhj.1_Missense_Mutation_p.E110A|WARS_uc001yhk.1_Missense_Mutation_p.E110A|WARS_uc001yhl.1_Missense_Mutation_p.E151A|WARS_uc010twz.1_Missense_Mutation_p.E151A	p.E151A	NM_173701	NP_776049	P23381	SYWC_HUMAN			4	536	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	151					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.452A>C	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046569	0.93740	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.75	5.75	0.90469	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	H	0.94385	3.53	0.80722	D	1	P	0.35124	0.485	P	0.50570	0.644	D	0.89901	0.4044	10	0.66056	D	0.02	-3.8613	16.3473	0.83146	0.0:0.0:0.0:1.0	.	151	P23381	SYWC_HUMAN	A	151;110;151;110;151;110;110;110;151;110;110;110;151	ENSP00000376620:E151A;ENSP00000351481:E110A;ENSP00000347495:E151A;ENSP00000339485:E110A;ENSP00000451460:E151A;ENSP00000451887:E110A;ENSP00000451490:E110A;ENSP00000451251:E110A;ENSP00000450500:E151A;ENSP00000451599:E110A;ENSP00000452519:E110A;ENSP00000451544:E110A;ENSP00000450427:E151A	ENSP00000339485:E110A	E	-	2	0	WARS	99890627	1.000000	0.71417	0.935000	0.37517	0.749000	0.42624	6.289000	0.72696	2.320000	0.78422	0.528000	0.53228	GAA		0.393	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		20	115	0	0	0	0.010504	0	20	115				
AHNAK2	113146	broad.mit.edu	37	14	105415206	105415206	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105415206C>T	ENST00000333244.5	-	7	6701	c.6582G>A	c.(6580-6582)ggG>ggA	p.G2194G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2194						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G2194G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAGGTCCCCCTGCATGG	0.642																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(6580-6582)GGG>GGA		AHNAK nucleoprotein 2							126.0	104.0	111.0					14																	105415206		1954	4118	6072	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415206C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6582G>A	14.37:g.105415206C>T						AHNAK2_uc001ypx.2_Silent_p.G2094G	p.G2194G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6702	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2194					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.6582G>A	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		63	103	0	0	0	0.01441	0	63	103				
AHNAK2	113146	broad.mit.edu	37	14	105417681	105417681	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105417681C>T	ENST00000333244.5	-	7	4226	c.4107G>A	c.(4105-4107)ggG>ggA	p.G1369G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1369						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G1369G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAGGTCCCCCTGCATGG	0.647																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4105-4107)GGG>GGA		AHNAK nucleoprotein 2							97.0	73.0	82.0					14																	105417681		1840	3110	4950	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105417681C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4107G>A	14.37:g.105417681C>T						AHNAK2_uc001ypx.2_Silent_p.G1269G	p.G1369G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4227	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1369					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4107G>A	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	5	0	0	0	0.00499	0	9	5				
GPR132	29933	broad.mit.edu	37	14	105517957	105517957	+	Missense_Mutation	SNP	C	C	T	rs200040782		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105517957C>T	ENST00000329797.3	-	4	1428	c.517G>A	c.(517-519)Gtt>Att	p.V173I	GPR132_ENST00000539291.2_Missense_Mutation_p.V173I|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.V164I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	173					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V173I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGTAGTGAACGATCCCGACG	0.627																																							uc001yqd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(517-519)GTT>ATT		G protein-coupled receptor 132		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	71.0	77.0		517	4.1	0.0	14		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR132	NM_013345.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	173/381	105517957	2,13004	2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517957C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.517G>A	14.37:g.105517957C>T	ENSP00000328818:p.Val173Ile					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V164I	p.V173I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1416	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	173			Helical; Name=4; (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.517G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151504	0.09185	2.27E-4	1.16E-4	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.71461	-0.57;-0.57;-0.57	4.97	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.502126	0.18926	N	0.127331	T	0.49541	0.1563	L	0.31371	0.925	0.09310	N	1	P;P	0.41366	0.508;0.747	B;B	0.33960	0.107;0.173	T	0.32481	-0.9905	10	0.18710	T	0.47	.	6.6204	0.22800	0.0:0.7104:0.0:0.2896	.	164;173	B4E144;Q9UNW8	.;GP132_HUMAN	I	173;164;173	ENSP00000328818:V173I;ENSP00000376364:V164I;ENSP00000438094:V173I	ENSP00000328818:V173I	V	-	1	0	GPR132	104589002	0.000000	0.05858	0.011000	0.14972	0.050000	0.14768	0.458000	0.21892	1.077000	0.40990	0.563000	0.77884	GTT		0.627	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		7	42	0	0	0	0.00245	0	7	42				
NPAP1	23742	broad.mit.edu	37	15	24922224	24922224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:24922224C>A	ENST00000329468.2	+	1	1684	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	404	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P404T(1)									TTTCTCCCAACCTGTGCAGAC	0.537																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1210-1212)CCT>ACT		hypothetical protein LOC23742							71.0	73.0	72.0					15																	24922224		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922224C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1210C>A	15.37:g.24922224C>A	ENSP00000333735:p.Pro404Thr						p.P404T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1684	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	404			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1210C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.364	0.833698	0.16820	.	.	ENSG00000185823	ENST00000329468	T	0.43688	0.94	2.07	-3.5	0.04710	.	1.631160	0.03977	N	0.292686	T	0.33206	0.0855	L	0.39898	1.24	0.09310	N	1	P	0.34977	0.478	B	0.41236	0.351	T	0.16364	-1.0405	10	0.30078	T	0.28	.	1.5364	0.02546	0.1964:0.2701:0.3861:0.1473	.	404	Q9NZP6	CO002_HUMAN	T	404	ENSP00000333735:P404T	ENSP00000333735:P404T	P	+	1	0	C15orf2	22473317	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.715000	0.04997	-0.883000	0.03982	0.313000	0.20887	CCT		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	48	1	0	1.49906e-05	0.00245	1.58802e-05	15	48				
TRPM1	4308	broad.mit.edu	37	15	31355390	31355390	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:31355390A>T	ENST00000256552.6	-	8	1043	c.896T>A	c.(895-897)gTg>gAg	p.V299E	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V277E|TRPM1_ENST00000542188.1_Missense_Mutation_p.V316E	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.V277E(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATCACAAATCACCACAGGGAT	0.617																																							uc001zfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(829-831)GTG>GAG		transient receptor potential cation channel,							69.0	76.0	74.0					15																	31355390		2062	4204	6266	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355390A>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.896T>A	15.37:g.31355390A>T	ENSP00000256552:p.Val299Glu					TRPM1_uc010azy.2_Missense_Mutation_p.V190E|TRPM1_uc001zfl.2_RNA	p.V277E	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	958	-		all_lung(180;1.92e-11)	277			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.830T>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574073	0.86542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36878	1.23;1.23;1.23	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	0.957;1.0	D;D	0.87578	0.936;0.998	T	0.76911	-0.2784	10	0.87932	D	0	-33.4482	15.827	0.78718	1.0:0.0:0.0:0.0	.	277;277	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	E	277;316;299;277	ENSP00000380897:V277E;ENSP00000437849:V316E;ENSP00000256552:V299E	ENSP00000256552:V299E	V	-	2	0	TRPM1	29142682	1.000000	0.71417	0.945000	0.38365	0.639000	0.38242	9.287000	0.95975	2.129000	0.65627	0.533000	0.62120	GTG		0.617	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		44	67	0	0	0	0.01441	0	44	67				
DUOX2	50506	broad.mit.edu	37	15	45387213	45387213	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:45387213T>A	ENST00000603300.1	-	32	4518	c.4316A>T	c.(4315-4317)aAc>aTc	p.N1439I	DUOX2_ENST00000389039.6_Missense_Mutation_p.N1439I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1439					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.N1439I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGTGGTCGTTCTCCTCCAC	0.572																																							uc010bea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(4315-4317)AAC>ATC		dual oxidase 2 precursor							111.0	95.0	100.0					15																	45387213		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387213T>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4316A>T	15.37:g.45387213T>A	ENSP00000475084:p.Asn1439Ile					DUOX2_uc001zun.2_Missense_Mutation_p.N1439I	p.N1439I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	32	4519	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1439			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4316A>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869250	0.51588	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.41	5.41	0.78517	Ferric reductase, NAD binding (1);	0.132733	0.64402	D	0.000002	T	0.46889	0.1416	N	0.16233	0.39	0.37044	D	0.897275	B	0.27229	0.172	B	0.38755	0.281	T	0.53258	-0.8464	9	0.32370	T	0.25	-16.6955	11.5582	0.50761	0.0:0.0:0.1599:0.8401	.	1439	Q9NRD8	DUOX2_HUMAN	I	1439	.	ENSP00000373691:N1439I	N	-	2	0	DUOX2	43174505	0.974000	0.33945	0.992000	0.48379	0.910000	0.53928	1.967000	0.40491	2.180000	0.69256	0.379000	0.24179	AAC		0.572	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		22	35	0	0	0	0.014323	0	22	35				
GNB5	10681	broad.mit.edu	37	15	52418243	52418243	+	Splice_Site	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:52418243T>C	ENST00000261837.7	-	11	978		c.e11-2		GNB5_ENST00000358784.7_Splice_Site|GNB5_ENST00000396335.4_Splice_Site|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_Splice_Site	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5						GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.?(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GAGGCGACACTGGGGAGCAAA	0.478																																							uc002abt.1		NA																	1	Unknown(1)		lung(1)	lung(1)	1						c.e11-1		guanine nucleotide-binding protein, beta-5							55.0	49.0	51.0					15																	52418243		2195	4293	6488	SO:0001630	splice_region_variant	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52418243T>C	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.913-2A>G	15.37:g.52418243T>C						GNB5_uc002abr.1_Splice_Site_p.C263_splice|GNB5_uc002abs.1_Splice_Site_p.C193_splice	p.C305_splice	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	11	978	-								B2RBR5|Q9HAU9|Q9UFT3	Splice_Site	SNP	ENST00000261837.7	37	c.913_splice	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015793	0.75161	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GNB5	50205535	1.000000	0.71417	0.982000	0.44146	0.776000	0.43924	7.753000	0.85153	2.333000	0.79357	0.533000	0.62120	.		0.478	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1		Intron	2	5	0	0	0	0.004672	0	2	5				
RP11-24M17.5	0	broad.mit.edu	37	15	76073178	76073178	+	RNA	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:76073178C>A	ENST00000395215.3	+	0	467																		p.Y142*(1)									CCACCCTTTACCATACTAAAC	0.493																																							uc010umm.1		NA																	1	Substitution - Nonsense(1)		lung(1)		NA						c.(388-390)TAC>TAA		SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																																						0							g.chr15:76073178C>A																													15.37:g.76073178C>A						uc002bba.1_5'Flank	p.Y130*							6	467	+									Nonsense_Mutation	SNP	ENST00000395215.3	37	c.390C>A		.	.	.	.	.	.	.	.	.	.	.	6.680	0.493992	0.12702	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8311	0.13441	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000378641:Y142X	Y	+	3	2	AC019294.2	73860233	0.007000	0.16637	0.012000	0.15200	0.239000	0.25481	-0.305000	0.08188	0.706000	0.31912	0.162000	0.16502	TAC		0.493	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			39	107	1	0	2.45108e-15	0.00874	2.8784e-15	39	107				
MORF4L1	10933	broad.mit.edu	37	15	79186452	79186452	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:79186452A>G	ENST00000331268.5	+	11	1003	c.799A>G	c.(799-801)Atg>Gtg	p.M267V	MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.M228V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.M201V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.M253V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	267	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.M267V(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CTTCAACGTAATGTTGGGTAC	0.408																																							uc002bel.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(799-801)ATG>GTG		MORF-related gene 15 isoform 2							103.0	112.0	109.0					15																	79186452		2196	4291	6487	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186452A>G	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.799A>G	15.37:g.79186452A>G	ENSP00000331310:p.Met267Val					MORF4L1_uc002bem.2_Missense_Mutation_p.M228V|MORF4L1_uc010une.1_Missense_Mutation_p.M140V	p.M267V	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			11	987	+			267			Sufficient for interaction with PHF12.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.799A>G	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766825	0.69878	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08984	3.03;3.03;3.03	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.64170	1.965	0.80722	D	1	B;P	0.42296	0.289;0.775	B;P	0.47376	0.083;0.545	T	0.04900	-1.0919	10	0.02654	T	1	-10.6177	12.5162	0.56034	1.0:0.0:0.0:0.0	.	228;267	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	253;228;267	ENSP00000368850:M253V;ENSP00000408880:M228V;ENSP00000331310:M267V	ENSP00000331310:M267V	M	+	1	0	MORF4L1	76973507	1.000000	0.71417	0.931000	0.37212	0.966000	0.64601	9.077000	0.94016	1.686000	0.51046	0.477000	0.44152	ATG		0.408	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		53	86	0	0	0	0.01441	0	53	86				
CRTC3	64784	broad.mit.edu	37	15	91172586	91172586	+	Missense_Mutation	SNP	C	C	T	rs375397418		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:91172586C>T	ENST00000268184.6	+	11	1092	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.S363L			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	363					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S363L(2)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTCACCCTTCGCTCCGTCTG	0.552			T	MAML2	salivary gland mucoepidermoid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20145	0.0		0.0	False		,,,				2504	0.0						uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	2	Substitution - Missense(2)		lung(2)	salivary_gland(26)|ovary(1)	27						c.(1087-1089)TCG>TTG		transducer of regulated CREB protein 3 isoform		C	LEU/SER,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	284.0	277.0	280.0		1088,1088	5.2	0.7	15		280	0,8596		0,0,4298	no	missense,missense	CRTC3	NM_001042574.1,NM_022769.3	145,145	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	363/619,363/620	91172586	1,12991	2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172586C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1088C>T	15.37:g.91172586C>T	ENSP00000268184:p.Ser363Leu					CRTC3_uc002bpo.2_Missense_Mutation_p.S363L	p.S363L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1194	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		363					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1088C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330903	0.41297	2.27E-4	0.0	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.14516	2.5;2.5	5.18	5.18	0.71444	.	0.448742	0.23571	N	0.046757	T	0.18425	0.0442	M	0.66939	2.045	0.53688	D	0.999976	P;P	0.48589	0.858;0.912	B;B	0.40659	0.181;0.336	T	0.02326	-1.1176	10	0.32370	T	0.25	-10.4455	16.2411	0.82409	0.0:1.0:0.0:0.0	.	363;363	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	327;363;363	ENSP00000268184:S363L;ENSP00000416573:S363L	ENSP00000268184:S363L	S	+	2	0	CRTC3	88973590	0.781000	0.28676	0.655000	0.29622	0.083000	0.17756	2.367000	0.44213	2.687000	0.91594	0.655000	0.94253	TCG		0.552	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		95	415	0	0	0	0.01441	0	95	415				
WDR90	197335	broad.mit.edu	37	16	708613	708613	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:708613A>G	ENST00000293879.4	+	23	2855	c.2855A>G	c.(2854-2856)aAg>aGg	p.K952R	WDR90_ENST00000549091.1_Missense_Mutation_p.K952R|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	952								p.K952R(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGACCATCAAGGTGTGGGAC	0.682																																							uc002cii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2854-2856)AAG>AGG		WD repeat domain 90							31.0	36.0	35.0					16																	708613		2046	4158	6204	SO:0001583	missense	197335							g.chr16:708613A>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2855A>G	16.37:g.708613A>G	ENSP00000293879:p.Lys952Arg					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.K479R|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.K126R|WDR90_uc002cin.1_5'Flank	p.K952R	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			23	2909	+		Hepatocellular(780;0.0218)	952			WD 10.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2855A>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.752266	0.31046	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.48836	0.8;3.65	5.42	-4.85	0.03142	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.060969	0.64402	U	0.000006	T	0.23133	0.0559	N	0.24115	0.695	0.54753	D	0.999984	B;P	0.34934	0.125;0.476	B;B	0.33890	0.046;0.172	T	0.08534	-1.0717	10	0.22109	T	0.4	.	6.7719	0.23598	0.3904:0.3597:0.2499:0.0	.	952;952	F8VUX9;Q96KV7	.;WDR90_HUMAN	R	952	ENSP00000448122:K952R;ENSP00000293879:K952R	ENSP00000293879:K952R	K	+	2	0	WDR90	648614	0.998000	0.40836	0.000000	0.03702	0.007000	0.05969	1.122000	0.31295	-1.368000	0.02149	-0.331000	0.08364	AAG		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		27	40	0	0	0	0.003271	0	27	40				
GLIS2	84662	broad.mit.edu	37	16	4382451	4382451	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:4382451C>G	ENST00000262366.3	+	3	991	c.170C>G	c.(169-171)tCa>tGa	p.S57*	GLIS2_ENST00000433375.1_Nonsense_Mutation_p.S57*|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	57	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.S57*(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCCCGCCCTCAGGTACTGGC	0.672																																							uc002cwc.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(169-171)TCA>TGA		GLIS family zinc finger 2							20.0	21.0	20.0					16																	4382451		2193	4294	6487	SO:0001587	stop_gained	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4382451C>G	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.170C>G	16.37:g.4382451C>G	ENSP00000262366:p.Ser57*						p.S57*	NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN			1	227	+			57			Interaction with CTNND1 (By similarity).		B3KX84	Nonsense_Mutation	SNP	ENST00000262366.3	37	c.170C>G	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	C	44	11.153747	0.99523	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	.	.	.	5.23	5.23	0.72850	.	0.161338	0.42420	D	0.000702	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.6084	0.88045	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000262366:S57X	S	+	2	0	GLIS2	4322452	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	4.352000	0.59404	2.440000	0.82611	0.650000	0.86243	TCA		0.672	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		3	32	0	0	0	0.000602	0	3	32				
PRKCB	5579	broad.mit.edu	37	16	23847552	23847552	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:23847552G>T	ENST00000321728.7	+	1	231	c.56G>T	c.(55-57)cGc>cTc	p.R19L	PRKCB_ENST00000303531.7_Missense_Mutation_p.R19L|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	19					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R19L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGCACCGTGCGCTTCGCCCGC	0.706																																							uc002dmd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(55-57)CGC>CTC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						54.0	47.0	50.0					16																	23847552		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847552G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.56G>T	16.37:g.23847552G>T	ENSP00000318315:p.Arg19Leu					PRKCB_uc002dme.2_Missense_Mutation_p.R19L	p.R19L	NM_212535	NP_997700	P05771	KPCB_HUMAN			1	253	+			19					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.56G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	g	13.14	2.148250	0.37923	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.89774	0.6812	L	0.39898	1.24	0.43342	D	0.995399	D;D	0.69078	0.989;0.997	P;D	0.76071	0.879;0.987	D	0.86814	0.2000	10	0.26408	T	0.33	.	9.588	0.39528	0.0:0.2156:0.7844:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	L	19	ENSP00000318315:R19L;ENSP00000305355:R19L	ENSP00000305355:R19L	R	+	2	0	PRKCB	23755053	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.588000	0.67517	1.768000	0.52137	0.558000	0.71614	CGC		0.706	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		15	33	1	0	3.41278e-10	0.00499	3.78374e-10	15	33				
SLC6A10P	386757	broad.mit.edu	37	16	32890801	32890801	+	RNA	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:32890801C>A	ENST00000330048.5	-	0	3079					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CATCCAGGGGCAAGGTCGGTA	0.677																																							uc002edh.1		NA																	0					0						c.(166-168)TGC>TTC		RecName: Full=Transporter;																																						386757							g.chr16:32890801C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890801C>A						SLC6A10P_uc002edi.1_RNA	p.C56F							4	343	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.167G>T																																																																																					0.677	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			5	47	1	0	5.03518e-11	0.007413	5.68848e-11	5	47				
PLEKHG4	25894	broad.mit.edu	37	16	67314355	67314355	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:67314355G>A	ENST00000360461.5	+	1	2943	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLEKHG4_ENST00000379344.3_Silent_p.A136A|PLEKHG4_ENST00000427155.2_Silent_p.A136A|PLEKHG4_ENST00000450733.1_Intron	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	136							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A136A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAAGCAGGGCGATGCCATCTG	0.592																																							uc002eso.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)|pancreas(1)	2						c.(406-408)GCG>GCA		pleckstrin homology domain containing, family G							66.0	68.0	67.0					16																	67314355		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314355G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.408G>A	16.37:g.67314355G>A						PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Silent_p.A136A|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Silent_p.A136A|PLEKHG4_uc002ess.3_Silent_p.A136A|PLEKHG4_uc010ceg.2_Intron	p.A136A	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2943	+			136					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.408G>A	CCDS32466.1																																																																																				0.592	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		9	171	0	0	0	0.006214	0	9	171				
PMFBP1	83449	broad.mit.edu	37	16	72158704	72158704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:72158704C>A	ENST00000537792.1	-	1	48	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A706S|PMFBP1_ENST00000237353.10_Missense_Mutation_p.A851S|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A856S			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	856						cytoplasm (GO:0005737)		p.A851S(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTAAGGCGGCCATCTCCTCC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002fcc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2566-2568)GCC>TCC		polyamine modulated factor 1 binding protein 1							161.0	148.0	152.0					16																	72158704		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72158704C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.49G>T	16.37:g.72158704C>A	ENSP00000443366:p.Ala17Ser		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Missense_Mutation_p.A851S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A706S|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147S	p.A856S	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			17	2738	-		Ovarian(137;0.179)	856			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2566G>T		.	.	.	.	.	.	.	.	.	.	C	0.583	-0.836287	0.02692	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.48522	0.81;2.73;2.72;2.73	5.09	-8.16	0.01061	.	1.675920	0.03139	N	0.166374	T	0.25865	0.0630	N	0.22421	0.69	0.09310	N	0.999996	B;B;B	0.16396	0.017;0.009;0.017	B;B;B	0.15052	0.007;0.012;0.007	T	0.17684	-1.0361	10	0.09590	T	0.72	3.1154	6.4171	0.21721	0.2235:0.2002:0.0:0.5763	.	856;851;856	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	S	17;856;851;706	ENSP00000443366:A17S;ENSP00000443817:A856S;ENSP00000237353:A851S;ENSP00000347854:A706S	ENSP00000237353:A851S	A	-	1	0	PMFBP1	70716205	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.293000	0.02770	-2.012000	0.00950	-0.961000	0.02630	GCC		0.572	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		72	156	1	0	5.32961e-40	0.01441	6.69954e-40	72	156				
WWOX	51741	broad.mit.edu	37	16	78458910	78458910	+	Nonsense_Mutation	SNP	C	C	G	rs368928190		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:78458910C>G	ENST00000566780.1	+	7	1115	c.749C>G	c.(748-750)tCa>tGa	p.S250*	WWOX_ENST00000408984.3_Nonsense_Mutation_p.S250*|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	250	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				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)	p.Q93E(1)|p.S250*(1)		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)		TTGTGCCGCTCAGCTCCTGCC	0.507																																							uc002ffk.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(748-750)TCA>TGA		WW domain-containing oxidoreductase isoform 1		C	stop/SER	1,4017		0,1,2008	143.0	143.0	143.0		749	5.7	1.0	16		143	0,8374		0,0,4187	no	stop-gained	WWOX	NM_016373.2		0,1,6195	GG,GC,CC		0.0,0.0249,0.0081		250/415	78458910	1,12391	2009	4187	6196	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.chr16:78458910C>G	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.749C>G	16.37:g.78458910C>G	ENSP00000457230:p.Ser250*					WWOX_uc010vnk.1_Nonsense_Mutation_p.S137*|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	p.S250*	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)	7	874	+		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)	250			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Nonsense_Mutation	SNP	ENST00000566780.1	37	c.749C>G	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.272491|4.272491	0.80580|0.80580	2.49E-4|2.49E-4	0.0|0.0	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.141073	.|0.50627	.|D	.|0.000117	T|.	0.81861|.	0.4912|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83576|.	0.0115|.	4|.	0.66056|0.87932	D|D	0.02|0	.|.	19.7559|19.7559	0.96291|0.96291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	93|250	.|.	ENSP00000299644:Q93E|ENSP00000386161:S250X	Q|S	+|+	1|2	0|0	WWOX|WWOX	77016411|77016411	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.930000|0.930000	0.56654|0.56654	7.487000|7.487000	0.81328|0.81328	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.507	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			18	221	0	0	0	0.008871	0	18	221				
OR1A1	8383	broad.mit.edu	37	17	3119530	3119530	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:3119530T>G	ENST00000304094.1	+	1	616	c.616T>G	c.(616-618)Ttc>Gtc	p.F206V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F206V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTTGGCATTTTCTCTGTGCC	0.478																																							uc010vrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(616-618)TTC>GTC		olfactory receptor, family 1, subfamily A,							288.0	250.0	263.0					17																	3119530		2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119530T>G	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.616T>G	17.37:g.3119530T>G	ENSP00000305207:p.Phe206Val						p.F206V	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	616	+			206			Helical; Name=5; (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.616T>G	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	T	9.145	1.014823	0.19355	.	.	ENSG00000172146	ENST00000304094	T	0.45668	0.89	4.96	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.35158	0.0922	N	0.02665	-0.54	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18116	-1.0347	10	0.48119	T	0.1	.	9.8948	0.41311	0.0:0.0837:0.0:0.9163	.	206	Q9P1Q5	OR1A1_HUMAN	V	206	ENSP00000305207:F206V	ENSP00000305207:F206V	F	+	1	0	OR1A1	3066280	0.000000	0.05858	0.993000	0.49108	0.252000	0.25951	-0.066000	0.11598	2.089000	0.63090	0.358000	0.22013	TTC		0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		57	170	0	0	0	0.01441	0	57	170				
VMO1	284013	broad.mit.edu	37	17	4689248	4689248	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:4689248C>G	ENST00000328739.5	-	2	374	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	VMO1_ENST00000441199.2_Missense_Mutation_p.E99Q|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Intron	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	99						extracellular vesicular exosome (GO:0070062)		p.E99Q(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GACTGGGACTCTACCACGTGC	0.612																																							uc002fyx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)GAG>CAG		vitelline membrane outer layer 1 isoform 1							529.0	483.0	498.0					17																	4689248		2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689248C>G	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.295G>C	17.37:g.4689248C>G	ENSP00000328397:p.Glu99Gln					VMO1_uc010vsh.1_Intron|VMO1_uc010vsi.1_Missense_Mutation_p.E99Q|VMO1_uc002fyy.2_Intron	p.E99Q	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN			2	377	-			99					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.295G>C	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533143	0.13188	.	.	ENSG00000182853	ENST00000328739;ENST00000441199	T;T	0.42513	0.97;0.97	4.58	2.6	0.31112	.	0.318240	0.32868	N	0.005541	T	0.31827	0.0809	L	0.49256	1.55	0.80722	D	1	B;B	0.20164	0.042;0.031	B;B	0.19148	0.024;0.013	T	0.07654	-1.0761	10	0.28530	T	0.3	-32.5187	6.3022	0.21119	0.0:0.7127:0.1868:0.1005	.	99;99	C9JQ15;Q7Z5L0	.;VMO1_HUMAN	Q	99	ENSP00000328397:E99Q;ENSP00000408166:E99Q	ENSP00000328397:E99Q	E	-	1	0	VMO1	4635988	0.977000	0.34250	0.974000	0.42286	0.000000	0.00434	2.532000	0.45659	0.571000	0.29365	-0.978000	0.02582	GAG		0.612	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		78	826	0	0	0	0.01441	0	78	826				
DNAH2	146754	broad.mit.edu	37	17	7636522	7636522	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7636522C>T	ENST00000572933.1	+	5	1977	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	DNAH2_ENST00000082259.3_Missense_Mutation_p.R173W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R173W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R173W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	173	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R173W(1)		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)				GGCCCTGCTTCGGCTGCTCGG	0.547																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(517-519)CGG>TGG		dynein heavy chain domain 3							89.0	87.0	88.0					17																	7636522		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7636522C>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.517C>T	17.37:g.7636522C>T	ENSP00000458355:p.Arg173Trp					DNAH2_uc002git.2_Missense_Mutation_p.R173W|DNAH2_uc010vuk.1_Missense_Mutation_p.R173W	p.R173W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			4	531	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	173			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.517C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833253	0.71258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.49720	0.77;0.77	5.42	5.42	0.78866	.	1.601390	0.03394	N	0.202373	T	0.66499	0.2795	L	0.45352	1.415	0.42996	D	0.994502	D;D	0.89917	0.99;1.0	B;D	0.76575	0.425;0.988	T	0.46541	-0.9184	10	0.87932	D	0	.	13.0191	0.58775	0.1615:0.8385:0.0:0.0	.	173;173	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	173	ENSP00000373825:R173W;ENSP00000082259:R173W	ENSP00000082259:R173W	R	+	1	2	DNAH2	7577247	0.933000	0.31639	1.000000	0.80357	0.789000	0.44602	1.666000	0.37460	2.561000	0.86390	0.561000	0.74099	CGG		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		28	106	0	0	0	0.012213	0	28	106				
DNAH2	146754	broad.mit.edu	37	17	7640477	7640477	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7640477C>T	ENST00000572933.1	+	8	2531	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	DNAH2_ENST00000082259.3_Silent_p.I357I|DNAH2_ENST00000389173.2_Silent_p.I357I|DNAH2_ENST00000570791.1_Silent_p.I357I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	357	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I357I(1)		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)				CCAAGGACATCTCTAGCAAGC	0.517																																							uc002giu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1069-1071)ATC>ATT		dynein heavy chain domain 3							132.0	114.0	120.0					17																	7640477		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.chr17:7640477C>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.1071C>T	17.37:g.7640477C>T						DNAH2_uc002git.2_Silent_p.I357I|DNAH2_uc010vuk.1_Silent_p.I357I	p.I357I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			7	1085	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	357			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1071C>T	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		16	92	0	0	0	0.003163	0	16	92				
DNAH2	146754	broad.mit.edu	37	17	7644211	7644211	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7644211G>A	ENST00000572933.1	+	11	3050	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	DNAH2_ENST00000082259.3_Silent_p.R612R|DNAH2_ENST00000389173.2_Silent_p.R530R|DNAH2_ENST00000570791.1_Silent_p.R612R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	530	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R530R(1)		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)				ACCGTGAACGGAACAAGAAAT	0.567																																							uc002giu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1588-1590)CGG>CGA		dynein heavy chain domain 3							127.0	116.0	120.0					17																	7644211		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.chr17:7644211G>A	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.1590G>A	17.37:g.7644211G>A						DNAH2_uc002git.2_Silent_p.R612R|DNAH2_uc010vuk.1_Silent_p.R530R	p.R530R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			10	1604	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	530			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1590G>A	CCDS32551.1																																																																																				0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		17	107	0	0	0	0.010504	0	17	107				
DNAH2	146754	broad.mit.edu	37	17	7646444	7646444	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7646444G>C	ENST00000572933.1	+	12	3348	c.1888G>C	c.(1888-1890)Gat>Cat	p.D630H	DNAH2_ENST00000082259.3_Missense_Mutation_p.D712H|DNAH2_ENST00000389173.2_Missense_Mutation_p.D630H|DNAH2_ENST00000570791.1_Missense_Mutation_p.D712H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	630	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D630H(1)		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)				GGGCATGCTGGATGTCAACTT	0.512																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1888-1890)GAT>CAT		dynein heavy chain domain 3							69.0	63.0	65.0					17																	7646444		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7646444G>C	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.1888G>C	17.37:g.7646444G>C	ENSP00000458355:p.Asp630His					DNAH2_uc002git.2_Missense_Mutation_p.D712H|DNAH2_uc010vuk.1_Missense_Mutation_p.D630H	p.D630H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			11	1902	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	630			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1888G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965876	0.74131	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55588	0.51;0.51	5.41	4.44	0.53790	Dynein heavy chain, domain-1 (1);	0.238077	0.40064	N	0.001181	T	0.64789	0.2630	L	0.59436	1.845	0.35270	D	0.780417	P;P	0.41978	0.619;0.767	P;B	0.59761	0.863;0.43	T	0.68318	-0.5440	10	0.30078	T	0.28	.	13.4641	0.61243	0.0783:0.0:0.9217:0.0	.	630;712	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	630;630;712	ENSP00000373825:D630H;ENSP00000082259:D712H	ENSP00000082259:D712H	D	+	1	0	DNAH2	7587169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.363000	0.66104	2.576000	0.86940	0.650000	0.86243	GAT		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		8	55	0	0	0	0.004482	0	8	55				
DHRS7C	201140	broad.mit.edu	37	17	9684874	9684874	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:9684874C>T	ENST00000330255.5	-	2	204	c.192G>A	c.(190-192)ctG>ctA	p.L64L	DHRS7C_ENST00000571134.1_Silent_p.L64L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	64					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.L64L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CACACAGCACCAGCCTTGCCC	0.567																																							uc010vvb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)CTG>CTA		dehydrogenase/reductase (SDR family) member 7C							80.0	85.0	83.0					17																	9684874		2021	4177	6198	SO:0001819	synonymous_variant	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684874C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.192G>A	17.37:g.9684874C>T						DHRS7C_uc010cof.2_Silent_p.L64L	p.L64L	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			2	192	-			64			NAD or NADP (By similarity).		B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	c.192G>A	CCDS56020.1																																																																																				0.567	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		9	25	0	0	0	0.010729	0	9	25				
MYH8	4626	broad.mit.edu	37	17	10298621	10298621	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:10298621C>A	ENST00000403437.2	-	34	4885	c.4791G>T	c.(4789-4791)gtG>gtT	p.V1597V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1597					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)	p.V1597V(1)		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						GCATTGTCTCCACGACTCTAG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(4789-4791)GTG>GTT		myosin, heavy chain 8, skeletal muscle,							220.0	182.0	195.0					17																	10298621		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298621C>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.4791G>T	17.37:g.10298621C>A						uc002gml.1_Intron	p.V1597V	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4886	-			1597			Potential.		Q14910	Silent	SNP	ENST00000403437.2	37	c.4791G>T	CCDS11153.1																																																																																				0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		19	107	1	0	3.5997e-14	0.014323	4.18597e-14	19	107				
DNAH9	1770	broad.mit.edu	37	17	11597208	11597208	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:11597208C>T	ENST00000262442.4	+	21	4706	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	DNAH9_ENST00000454412.2_Silent_p.I1546I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1546	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I1546I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGAAGGCATCGACATTGACT	0.428																																							uc002gne.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(4636-4638)ATC>ATT		dynein, axonemal, heavy chain 9 isoform 2							115.0	110.0	112.0					17																	11597208		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11597208C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4638C>T	17.37:g.11597208C>T						DNAH9_uc010coo.2_Silent_p.I840I	p.I1546I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	21	4706	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1546			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.4638C>T	CCDS11160.1																																																																																				0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		23	94	0	0	0	0.004656	0	23	94				
ANKRD13B	124930	broad.mit.edu	37	17	27936421	27936421	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:27936421G>A	ENST00000394859.3	+	7	958	c.804G>A	c.(802-804)gtG>gtA	p.V268V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	268						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V268V(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGAGATGGTGAATGGGTATG	0.607																																							uc002hei.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GTG>GTA		ankyrin repeat domain 13B							54.0	43.0	46.0					17																	27936421		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27936421G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.804G>A	17.37:g.27936421G>A						ANKRD13B_uc002heh.2_Silent_p.V136V|ANKRD13B_uc002hej.2_RNA	p.V268V	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			7	917	+			268					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.804G>A	CCDS11251.1																																																																																				0.607	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		4	58	0	0	0	0.000602	0	4	58				
ADAP2	55803	broad.mit.edu	37	17	29283319	29283319	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:29283319G>A	ENST00000330889.3	+	10	1278	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ADAP2_ENST00000580525.1_Missense_Mutation_p.E321K|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	315	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.E315K(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGAAGCCTACGAAGACCTGCC	0.557																																							uc002hfx.2		NA																	2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|central_nervous_system(1)	ovary(1)	1						c.(943-945)GAA>AAA		centaurin-alpha 2 protein							73.0	66.0	69.0					17																	29283319		2203	4300	6503	SO:0001583	missense	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29283319G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.943G>A	17.37:g.29283319G>A	ENSP00000329468:p.Glu315Lys					ADAP2_uc010csk.2_Missense_Mutation_p.E321K|ADAP2_uc002hfy.2_Missense_Mutation_p.E314K|ADAP2_uc010csl.2_RNA	p.E315K	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN			10	1222	+			315			PH 2.		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	c.943G>A	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233995	0.22626	.	.	ENSG00000184060	ENST00000330889	T	0.23754	1.89	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.195268	0.53938	D	0.000052	T	0.23094	0.0558	L	0.48935	1.535	0.42608	D	0.9933	P;B;B	0.47034	0.889;0.013;0.007	B;B;B	0.39465	0.3;0.036;0.027	T	0.03403	-1.1040	10	0.21540	T	0.41	.	15.7019	0.77549	0.0:0.0:1.0:0.0	.	321;314;315	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	K	315	ENSP00000329468:E315K	ENSP00000329468:E315K	E	+	1	0	ADAP2	26307445	0.663000	0.27448	0.910000	0.35882	0.195000	0.23768	4.208000	0.58486	2.568000	0.86640	0.462000	0.41574	GAA		0.557	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		4	100	0	0	0	0.001168	0	4	100				
NLE1	54475	broad.mit.edu	37	17	33462471	33462471	+	Splice_Site	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:33462471C>G	ENST00000442241.4	-	10	1051		c.e10-1		NLE1_ENST00000586869.1_Splice_Site|NLE1_ENST00000360831.5_Splice_Site|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)						hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.?(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GACCCTGGCCCTAGGGGAGGC	0.567																																							uc002hiy.1		NA																	1	Unknown(1)		lung(1)	breast(3)|ovary(1)	4						c.e10-1		Notchless gene homolog isoform a							49.0	50.0	50.0					17																	33462471		2203	4300	6503	SO:0001630	splice_region_variant	54475					nucleolus		g.chr17:33462471C>G		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1012-1G>C	17.37:g.33462471C>G						NLE1_uc010ctn.1_Splice_Site_p.G46_splice|NLE1_uc002hiz.1_Splice_Site_p.G46_splice	p.G338_splice	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			10	1040	-		Ovarian(249;0.17)						O60868|Q59GJ8|Q9BU54	Splice_Site	SNP	ENST00000442241.4	37	c.1012_splice	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502120	0.64298	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000436188;ENST00000537697	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLE1	30486584	1.000000	0.71417	0.950000	0.38849	0.618000	0.37518	7.110000	0.77069	2.708000	0.92522	0.650000	0.86243	.		0.567	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	Intron	13	27	0	0	0	0.00333	0	13	27				
PLXDC1	57125	broad.mit.edu	37	17	37239790	37239790	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:37239790C>G	ENST00000315392.4	-	9	1122	c.911G>C	c.(910-912)tGc>tCc	p.C304S	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000444911.2_Missense_Mutation_p.C264S|PLXDC1_ENST00000394316.2_Missense_Mutation_p.C304S|AC091178.1_ENST00000410562.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	304					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.C304S(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGCTGCAGGCAGGCTGCAAG	0.572																																							uc002hrg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(910-912)TGC>TCC		plexin domain containing 1 precursor							80.0	48.0	59.0					17																	37239790		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37239790C>G	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.911G>C	17.37:g.37239790C>G	ENSP00000323927:p.Cys304Ser					uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.C12S|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_Intron	p.C304S	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			9	1123	-			304			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.911G>C	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419741	0.42918	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911;ENST00000394316	D;D;T	0.91464	-2.85;-2.85;-1.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.82630	2.6	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95581	0.8646	10	0.87932	D	0	-32.5591	16.0542	0.80782	0.0:1.0:0.0:0.0	.	264;304	B4E173;Q8IUK5	.;PXDC1_HUMAN	S	304;231;264;304	ENSP00000323927:C304S;ENSP00000409687:C264S;ENSP00000377851:C304S	ENSP00000323927:C304S	C	-	2	0	PLXDC1	34493316	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.598000	0.67585	2.864000	0.98301	0.551000	0.68910	TGC		0.572	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		8	13	0	0	0	0.004482	0	8	13				
KRT26	353288	broad.mit.edu	37	17	38926018	38926018	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:38926018G>A	ENST00000335552.4	-	5	1005	c.957C>T	c.(955-957)tcC>tcT	p.S319S		NM_181539.4	NP_853517.2			keratin 26									p.S319S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CAGCCATGAGGGACTGAAGTT	0.398																																							uc002hvf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(955-957)TCC>TCT		keratin 26							176.0	160.0	166.0					17																	38926018		2203	4300	6503	SO:0001819	synonymous_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926018G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.957C>T	17.37:g.38926018G>A							p.S319S	NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN			5	1003	-		Breast(137;0.00526)	319			Rod.|Coil 2.			Silent	SNP	ENST00000335552.4	37	c.957C>T	CCDS11374.1																																																																																				0.398	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		7	124	0	0	0	0.004482	0	7	124				
ACE	1636	broad.mit.edu	37	17	61559074	61559074	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:61559074G>C	ENST00000290866.4	+	7	1117	c.1093G>C	c.(1093-1095)Gac>Cac	p.D365H	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D365H|ACE_ENST00000538928.1_Missense_Mutation_p.D365H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	365	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.D365H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCGGCTTGGGACTTCTACAA	0.647																																							uc002jau.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1093-1095)GAC>CAC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						52.0	60.0	57.0					17																	61559074		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61559074G>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1093G>C	17.37:g.61559074G>C	ENSP00000290866:p.Asp365His					ACE_uc010wpi.1_Missense_Mutation_p.D365H|ACE_uc010ddu.1_Missense_Mutation_p.D182H	p.D365H	NM_000789	NP_000780	P12821	ACE_HUMAN			7	1115	+			365			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1093G>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447888	0.84101	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50277	0.75;0.75;0.75	4.19	4.19	0.49359	.	0.104080	0.64402	D	0.000005	T	0.77246	0.4102	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.85316	0.1081	10	0.87932	D	0	-28.3105	16.7198	0.85407	0.0:0.0:1.0:0.0	.	365;365;365	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	H	365	ENSP00000439591:D365H;ENSP00000290866:D365H;ENSP00000397593:D365H	ENSP00000290866:D365H	D	+	1	0	ACE	58912806	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.657000	0.98554	2.153000	0.67306	0.561000	0.74099	GAC		0.647	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			6	156	0	0	0	0.004482	0	6	156				
ABCA8	10351	broad.mit.edu	37	17	66883575	66883575	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:66883575C>T	ENST00000269080.2	-	23	3234	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1073N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1073N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1033					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D1033N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGGAAACATCCACCAGCGCC	0.413																																							uc002jhp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3097-3099)GAT>AAT		ATP-binding cassette, sub-family A member 8							116.0	135.0	128.0					17																	66883575		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66883575C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3097G>A	17.37:g.66883575C>T	ENSP00000269080:p.Asp1033Asn					ABCA8_uc002jhq.2_Missense_Mutation_p.D1073N|ABCA8_uc010wqq.1_Missense_Mutation_p.D1073N|ABCA8_uc010wqr.1_Missense_Mutation_p.D1012N	p.D1033N	NM_007168	NP_009099	O94911	ABCA8_HUMAN			23	3276	-	Breast(10;4.56e-13)		1033			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3097G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045914	0.93685	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.88046	-2.33;-2.33	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000106	D	0.92662	0.7668	M	0.85859	2.78	0.51767	D	0.999936	D;P;P;P	0.63046	0.992;0.931;0.838;0.931	P;P;P;P	0.58013	0.74;0.764;0.74;0.831	D	0.93863	0.7155	10	0.72032	D	0.01	.	16.2822	0.82697	0.0:1.0:0.0:0.0	.	1012;1073;1073;1033	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	N	1033;1073;1012	ENSP00000269080:D1033N;ENSP00000402814:D1073N	ENSP00000269080:D1033N	D	-	1	0	ABCA8	64395170	1.000000	0.71417	0.995000	0.50966	0.810000	0.45777	5.699000	0.68310	2.501000	0.84356	0.655000	0.94253	GAT		0.413	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		11	231	0	0	0	0.008291	0	11	231				
ST6GALNAC2	10610	broad.mit.edu	37	17	74570505	74570505	+	Silent	SNP	G	G	C	rs566040559		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:74570505G>C	ENST00000225276.5	-	3	622	c.303C>G	c.(301-303)ctC>ctG	p.L101L	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	101					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.L101L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGCGGTCCCAGAGCGCTGGGG	0.637													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13383	0.0		0.0	False		,,,				2504	0.0						uc002jsg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)CTC>CTG		sialyltransferase 7B							39.0	37.0	38.0					17																	74570505		2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74570505G>C	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.303C>G	17.37:g.74570505G>C							p.L101L	NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN			3	558	-			101			Lumenal (Potential).		Q12971	Silent	SNP	ENST00000225276.5	37	c.303C>G	CCDS11747.1																																																																																				0.637	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		16	61	0	0	0	0.00499	0	16	61				
ENGASE	64772	broad.mit.edu	37	17	77073539	77073539	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:77073539C>G	ENST00000579016.1	+	2	174	c.174C>G	c.(172-174)gtC>gtG	p.V58V	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	58						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.V58V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AAGAGACAGTCTTTCGAGAGG	0.463																																							uc002jwv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(172-174)GTC>GTG		endo-beta-N-acetylglucosaminidase							77.0	76.0	76.0					17																	77073539		1863	4087	5950	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073539C>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.174C>G	17.37:g.77073539C>G						ENGASE_uc002jwu.1_Silent_p.V58V|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	p.V58V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			2	182	+			58					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.174C>G	CCDS42394.1																																																																																				0.463	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		18	78	0	0	0	0.007413	0	18	78				
CEP192	55125	broad.mit.edu	37	18	13049425	13049425	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:13049425G>A	ENST00000325971.8	+	14	2440	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	CEP192_ENST00000430049.2_Missense_Mutation_p.V404M|CEP192_ENST00000506447.1_Missense_Mutation_p.V879M			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	283					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.V879M(1)|p.V283M(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTAGTTGATGTGAAGACATG	0.348																																							uc010xac.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2635-2637)GTG>ATG		centrosomal protein 192kDa							98.0	89.0	92.0					18																	13049425		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13049425G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.847G>A	18.37:g.13049425G>A	ENSP00000317156:p.Val283Met					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V404M|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.V620M	p.V879M	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			16	2715	+			879					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2635G>A		.	.	.	.	.	.	.	.	.	.	G	0.630	-0.817661	0.02776	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80123	-1.34;-1.34;-1.34	4.74	-0.555	0.11807	.	0.782176	0.10610	N	0.654556	T	0.67730	0.2924	L	0.47716	1.5	0.09310	N	1	B;B;B	0.28291	0.206;0.021;0.102	B;B;B	0.24269	0.052;0.022;0.033	T	0.55477	-0.8135	10	0.45353	T	0.12	0.6987	1.7069	0.02884	0.3254:0.1289:0.414:0.1316	.	404;879;283	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	M	879;283;283;404	ENSP00000427550:V879M;ENSP00000317156:V283M;ENSP00000389190:V404M	ENSP00000317156:V283M	V	+	1	0	CEP192	13039425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.832000	0.04400	-0.228000	0.09869	-0.145000	0.13849	GTG		0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		29	79	0	0	0	0.009535	0	29	79				
TRAPPC8	22878	broad.mit.edu	37	18	29437671	29437671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:29437671C>G	ENST00000283351.4	-	20	3355	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G953A	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1007					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.G1007A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTCCTGTGCCAATGCCAAA	0.493																																							uc002kxc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3019-3021)GGC>GCC		hypothetical protein LOC22878							129.0	117.0	121.0					18																	29437671		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437671C>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3020G>C	18.37:g.29437671C>G	ENSP00000283351:p.Gly1007Ala					KIAA1012_uc002kxb.3_Missense_Mutation_p.G953A|KIAA1012_uc002kxd.3_RNA	p.G1007A	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			20	3384	-			1007					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3020G>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490095	0.44249	.	.	ENSG00000153339	ENST00000283351	T	0.07688	3.17	5.21	5.21	0.72293	.	0.249482	0.40469	N	0.001088	T	0.07863	0.0197	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27020	-1.0086	10	0.10111	T	0.7	.	19.1082	0.93305	0.0:1.0:0.0:0.0	.	1007	Q9Y2L5	TPPC8_HUMAN	A	1007	ENSP00000283351:G1007A	ENSP00000283351:G1007A	G	-	2	0	TRAPPC8	27691669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.384000	0.52478	2.582000	0.87167	0.563000	0.77884	GGC		0.493	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		29	73	0	0	0	0.013726	0	29	73				
ST8SIA5	29906	broad.mit.edu	37	18	44268875	44268875	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:44268875G>C	ENST00000315087.7	-	4	979	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.L76V|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.L143V	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	107					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.L107V(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CACCTGGACAGAGTAGACCTG	0.572																																							uc002lcj.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(319-321)CTG>GTG		ST8 alpha-N-acetyl-neuraminide							96.0	83.0	88.0					18																	44268875		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44268875G>C	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.319C>G	18.37:g.44268875G>C	ENSP00000321343:p.Leu107Val					ST8SIA5_uc002lci.1_Intron|ST8SIA5_uc010xcy.1_Missense_Mutation_p.L143V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.L76V	p.L107V	NM_013305	NP_037437	O15466	SIA8E_HUMAN			4	887	-			107			Lumenal (Potential).		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.319C>G	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708935	0.48517	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.57752	0.38;0.41;1.28	5.48	2.7	0.31948	.	0.000000	0.64402	D	0.000001	T	0.65322	0.2680	M	0.63843	1.955	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.974;1.0	D;P;D	0.85130	0.997;0.742;0.996	T	0.61227	-0.7105	10	0.45353	T	0.12	.	9.4153	0.38517	0.2931:0.0:0.7069:0.0	.	76;143;107	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	V	107;143;76	ENSP00000321343:L107V;ENSP00000445492:L143V;ENSP00000443683:L76V	ENSP00000321343:L107V	L	-	1	2	ST8SIA5	42522873	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	1.577000	0.36515	0.274000	0.22072	-0.266000	0.10368	CTG		0.572	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		19	40	0	0	0	0.012319	0	19	40				
TCEB3C	162699	broad.mit.edu	37	18	44555306	44555306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:44555306G>T	ENST00000330682.2	-	1	1143	c.908C>A	c.(907-909)cCa>cAa	p.P303Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P303Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGGAGCGCTGGCGCGGAGAG	0.637																																							uc010xdb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CCA>CAA		transcription elongation factor B polypeptide							374.0	377.0	376.0					18																	44555306		1906	3716	5622	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555306G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.908C>A	18.37:g.44555306G>T	ENSP00000328232:p.Pro303Gln					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P303Q	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1144	-			303						Missense_Mutation	SNP	ENST00000330682.2	37	c.908C>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.670871	0.29693	.	.	ENSG00000183791	ENST00000330682	T	0.14266	2.52	1.1	1.1	0.20463	.	0.266273	0.26546	N	0.023773	T	0.24160	0.0585	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.01688	-1.1295	10	0.48119	T	0.1	-5.1639	5.619	0.17448	0.0:0.0:1.0:0.0	.	303	Q8NG57	ELOA3_HUMAN	Q	303	ENSP00000328232:P303Q	ENSP00000328232:P303Q	P	-	2	0	TCEB3C	42809304	0.462000	0.25791	0.002000	0.10522	0.001000	0.01503	2.211000	0.42825	0.921000	0.36994	0.485000	0.47835	CCA		0.637	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		22	896	1	0	4.35082e-09	0.010504	4.7792e-09	22	896				
RTTN	25914	broad.mit.edu	37	18	67697257	67697257	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:67697257C>T	ENST00000255674.6	-	42	6022	c.5736G>A	c.(5734-5736)ttG>ttA	p.L1912L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1912					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1912L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCTTTTTTTTCAATGCTGCTT	0.398																																							uc002lkp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(5734-5736)TTG>TTA		rotatin							207.0	180.0	189.0					18																	67697257		1848	4089	5937	SO:0001819	synonymous_variant	25914						binding	g.chr18:67697257C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5736G>A	18.37:g.67697257C>T						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L1000L|RTTN_uc010dqp.2_Silent_p.L164L	p.L1912L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			42	5804	-		Esophageal squamous(42;0.129)	1912					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5736G>A	CCDS42443.1																																																																																				0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		10	120	0	0	0	0.006214	0	10	120				
CNDP1	84735	broad.mit.edu	37	18	72238504	72238504	+	Splice_Site	SNP	C	C	T	rs148458615		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:72238504C>T	ENST00000358821.3	+	7	1068	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CNDP1_ENST00000582365.1_Splice_Site_p.L237L	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	280						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.L280L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TTGCTCTTCTCGGTAATGCCT	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21413	0.0		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(838-840)CTC>CTT		carnosinase 1 precursor		C		4,4402	8.1+/-20.4	0,4,2199	240.0	204.0	216.0		840	-11.6	0.1	18	dbSNP_134	216	0,8600		0,0,4300	no	coding-synonymous-near-splice	CNDP1	NM_032649.5		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		280/508	72238504	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72238504C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.841+1C>T	18.37:g.72238504C>T						CNDP1_uc002lls.2_Silent_p.L83L	p.L280L	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	7	1051	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	280					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	c.840C>T	CCDS12007.1																																																																																				0.423	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	Silent	11	111	0	0	0	0.013537	0	11	111				
ZNF559	84527	broad.mit.edu	37	19	9452759	9452759	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:9452759G>C	ENST00000393883.2	+	6	1280	c.632G>C	c.(631-633)aGa>aCa	p.R211T	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592896.1_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.R131T|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R275T|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R211T|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R211T(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GGTGGAGAGAGACCATATACT	0.378																																							uc002mlg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)AGA>ACA		zinc finger protein 559							108.0	104.0	106.0					19																	9452759		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452759G>C	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.632G>C	19.37:g.9452759G>C	ENSP00000377461:p.Arg211Thr					ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.R203T|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.R275T|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.R211T	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1279	+			211					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.632G>C	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904532	0.17760	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.61742	0.08;4.59	1.58	-1.66	0.08265	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48642	0.1511	M	0.77313	2.365	0.09310	N	0.999999	B;B;P	0.39480	0.033;0.243;0.675	B;B;B	0.29862	0.01;0.065;0.108	T	0.42816	-0.9429	9	0.87932	D	0	.	5.7873	0.18340	0.4715:0.0:0.5285:0.0	.	211;211;131	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	T	211;131;211	ENSP00000442832:R131T;ENSP00000377461:R211T	ENSP00000325393:R211T	R	+	2	0	ZNF559	9313759	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.988000	0.03739	-0.440000	0.07211	0.455000	0.32223	AGA		0.378	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		39	42	0	0	0	0.010771	0	39	42				
KEAP1	9817	broad.mit.edu	37	19	10602840	10602840	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:10602840G>C	ENST00000171111.5	-	3	1285	c.738C>G	c.(736-738)ttC>ttG	p.F246L	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.F246L|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	246	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.F246L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGCAGGCGTGGAAGACCTCGG	0.622																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(736-738)TTC>TTG		kelch-like ECH-associated protein 1							74.0	64.0	68.0					19																	10602840		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602840G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.738C>G	19.37:g.10602840G>C	ENSP00000171111:p.Phe246Leu					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F246L	p.F246L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	894	-			246			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.738C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852889	0.71719	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70749	-0.51;-0.51	5.6	4.57	0.56435	BTB/Kelch-associated (2);	0.148449	0.64402	D	0.000007	T	0.61739	0.2371	L	0.48935	1.535	0.54753	D	0.999989	P	0.38280	0.625	B	0.37508	0.252	T	0.62595	-0.6821	10	0.49607	T	0.09	.	8.4891	0.33089	0.1732:0.0:0.8268:0.0	.	246	Q14145	KEAP1_HUMAN	L	246	ENSP00000171111:F246L;ENSP00000377245:F246L	ENSP00000171111:F246L	F	-	3	2	KEAP1	10463840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.718000	0.74713	1.380000	0.46344	0.555000	0.69702	TTC		0.622	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		26	42	0	0	0	0.005443	0	26	42				
CARM1	10498	broad.mit.edu	37	19	11022908	11022908	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:11022908G>C	ENST00000327064.4	+	5	797	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P	CARM1_ENST00000344150.4_Missense_Mutation_p.A203P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	203	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A203P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTTTTTGCCGCCCAAGCTGG	0.627																																							uc002mpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GCC>CCC		coactivator-associated arginine							312.0	255.0	274.0					19																	11022908		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022908G>C	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.607G>C	19.37:g.11022908G>C	ENSP00000325690:p.Ala203Pro					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	p.A203P	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			5	733	+			203					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.607G>C	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901985	0.92035	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.39229	1.09;1.09	5.67	4.62	0.57501	.	0.131786	0.49916	D	0.000130	T	0.72574	0.3477	M	0.93328	3.405	0.48830	D	0.999715	D	0.76494	0.999	D	0.77557	0.99	T	0.81230	-0.1027	10	0.87932	D	0	-4.0609	14.8205	0.70068	0.0:0.0:0.8545:0.1455	.	203	Q86X55	CARM1_HUMAN	P	203	ENSP00000325690:A203P;ENSP00000340934:A203P	ENSP00000325690:A203P	A	+	1	0	CARM1	10883908	1.000000	0.71417	0.203000	0.23512	0.993000	0.82548	9.233000	0.95337	1.373000	0.46208	0.655000	0.94253	GCC		0.627	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		169	232	0	0	0	0.01441	0	169	232				
CC2D1A	54862	broad.mit.edu	37	19	14024056	14024056	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:14024056G>A	ENST00000318003.7	+	5	695	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E152K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	152					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.E152K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GACAGCAATTGAAAGCGCCAG	0.637																																							uc002mxo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GAA>AAA		coiled-coil and C2 domain containing 1A							24.0	30.0	28.0					19																	14024056		1990	4159	6149	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024056G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.454G>A	19.37:g.14024056G>A	ENSP00000313601:p.Glu152Lys					CC2D1A_uc002mxn.2_Missense_Mutation_p.E51K|CC2D1A_uc002mxp.2_Missense_Mutation_p.E152K|CC2D1A_uc010dzh.2_5'UTR	p.E152K	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	753	+			152					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.454G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	3.457	-0.110802	0.06924	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.18657	2.2	4.91	3.82	0.43975	Domain of unknown function DM14 (1);	0.625622	0.16690	N	0.203593	T	0.13500	0.0327	L	0.32530	0.975	0.09310	N	1	B;B	0.32467	0.372;0.255	B;B	0.32677	0.15;0.034	T	0.16305	-1.0407	10	0.11485	T	0.65	-10.9986	8.3233	0.32142	0.1852:0.0:0.8148:0.0	.	152;152	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	K	152;127	ENSP00000313601:E152K	ENSP00000313601:E152K	E	+	1	0	CC2D1A	13885056	0.003000	0.15002	0.074000	0.20217	0.198000	0.23893	1.023000	0.30065	2.551000	0.86045	0.561000	0.74099	GAA		0.637	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		3	26	0	0	0	0.000602	0	3	26				
GPI	2821	broad.mit.edu	37	19	34868423	34868423	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:34868423G>T	ENST00000356487.5	+	5	659	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	GPI_ENST00000586425.1_Missense_Mutation_p.D140Y|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	140					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.D140Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCGGAGCGGTGACTGGAAGGG	0.582																																							uc002nvg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(418-420)GAC>TAC		glucose phosphate isomerase							108.0	91.0	97.0					19																	34868423		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34868423G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.418G>T	19.37:g.34868423G>T	ENSP00000348877:p.Asp140Tyr					GPI_uc002nvf.2_Missense_Mutation_p.D179Y|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.D140Y	p.D140Y	NM_000175	NP_000166	P06744	G6PI_HUMAN			5	521	+	Esophageal squamous(110;0.162)		140					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.418G>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019771	0.75275	.	.	ENSG00000105220	ENST00000356487	D	0.93133	-3.17	5.82	3.7	0.42460	.	0.461691	0.29059	N	0.013279	D	0.90793	0.7109	L	0.55990	1.75	0.41446	D	0.987952	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.006	D	0.87313	0.2313	10	0.87932	D	0	.	12.3402	0.55089	0.1365:0.0:0.8635:0.0	.	123;140	B4DVJ0;P06744	.;G6PI_HUMAN	Y	140	ENSP00000348877:D140Y	ENSP00000348877:D140Y	D	+	1	0	GPI	39560263	1.000000	0.71417	0.301000	0.25044	0.973000	0.67179	5.611000	0.67674	0.813000	0.34350	0.655000	0.94253	GAC		0.582	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			33	110	1	0	1.15183e-24	0.009718	1.40823e-24	33	110				
GPI	2821	broad.mit.edu	37	19	34868425	34868425	+	Silent	SNP	C	C	T	rs11548997		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:34868425C>T	ENST00000356487.5	+	5	661	c.420C>T	c.(418-420)gaC>gaT	p.D140D	GPI_ENST00000586425.1_Silent_p.D140D|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	140					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.D140D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGAGCGGTGACTGGAAGGGGT	0.587																																							uc002nvg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(418-420)GAC>GAT		glucose phosphate isomerase							109.0	92.0	98.0					19																	34868425		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34868425C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.420C>T	19.37:g.34868425C>T						GPI_uc002nvf.2_Silent_p.D179D|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Silent_p.D140D	p.D140D	NM_000175	NP_000166	P06744	G6PI_HUMAN			5	523	+	Esophageal squamous(110;0.162)		140					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.420C>T	CCDS12437.1																																																																																				0.587	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			32	114	0	0	0	0.007835	0	32	114				
KCNK6	9424	broad.mit.edu	37	19	38817502	38817502	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:38817502G>A	ENST00000263372.3	+	2	699	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	198					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.A198T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCTCGAGGAGGCCTGGAGCTT	0.657																																							uc002oic.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)GCC>ACC		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						153.0	148.0	150.0					19																	38817502		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817502G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.592G>A	19.37:g.38817502G>A	ENSP00000263372:p.Ala198Thr					KCNK6_uc002oid.2_Missense_Mutation_p.A64T	p.A198T	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	702	+	all_cancers(60;5.83e-07)		198					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.592G>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	6.626	0.483962	0.12581	.	.	ENSG00000099337	ENST00000263372	T	0.29142	1.58	5.45	0.919	0.19392	Ion transport 2 (1);	0.682487	0.15590	N	0.254441	T	0.11879	0.0289	N	0.04090	-0.28	0.21256	N	0.999743	B	0.12013	0.005	B	0.11329	0.006	T	0.19386	-1.0307	10	0.39692	T	0.17	.	3.9746	0.09468	0.3319:0.0:0.5117:0.1564	.	198	Q9Y257	KCNK6_HUMAN	T	198	ENSP00000263372:A198T	ENSP00000263372:A198T	A	+	1	0	KCNK6	43509342	0.000000	0.05858	0.835000	0.33067	0.438000	0.31896	-0.234000	0.09028	0.026000	0.15269	0.561000	0.74099	GCC		0.657	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		71	357	0	0	0	0.01441	0	71	357				
RYR1	6261	broad.mit.edu	37	19	39023335	39023335	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:39023335G>A	ENST00000359596.3	+	78	11218	c.11218G>A	c.(11218-11220)Gag>Aag	p.E3740K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3740K|RYR1_ENST00000355481.4_Missense_Mutation_p.E3735K|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3740					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3740K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGGGAGGGGAGAACGGTGA	0.602																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(11218-11220)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						106.0	103.0	104.0					19																	39023335		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39023335G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11218G>A	19.37:g.39023335G>A	ENSP00000352608:p.Glu3740Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E3735K|RYR1_uc002oiv.1_Missense_Mutation_p.E655K|RYR1_uc010xuf.1_Missense_Mutation_p.E660K	p.E3740K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		78	11348	+	all_cancers(60;7.91e-06)		3740					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11218G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338654	0.60963	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97161	-4.25;-4.25;-4.27	5.37	5.37	0.77165	.	0.000000	0.64402	U	0.000002	D	0.98178	0.9398	M	0.74881	2.28	0.51767	D	0.999939	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	D	0.98583	1.0651	10	0.52906	T	0.07	.	16.6159	0.84916	0.0:0.0:1.0:0.0	.	3740;3735;3740	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	K	3740;3735;3740;660	ENSP00000352608:E3740K;ENSP00000347667:E3735K;ENSP00000354254:E3740K	ENSP00000347667:E3735K	E	+	1	0	RYR1	43715175	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.377000	0.73145	2.522000	0.85027	0.655000	0.94253	GAG		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			42	82	0	0	0	0.01441	0	42	82				
FAM83E	54854	broad.mit.edu	37	19	49116501	49116501	+	Silent	SNP	C	C	T	rs201699578	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:49116501C>T	ENST00000263266.3	-	1	318	c.129G>A	c.(127-129)gcG>gcA	p.A43A	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	43								p.A43A(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGAACGCCTCCGCGCCCTTGC	0.667																																							uc002pjn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)GCG>GCA		hypothetical protein LOC54854							19.0	24.0	22.0					19																	49116501		2093	4227	6320	SO:0001819	synonymous_variant	54854							g.chr19:49116501C>T	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.129G>A	19.37:g.49116501C>T							p.A43A	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	194	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	43					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.129G>A	CCDS42587.1																																																																																				0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		5	35	0	0	0	0.00308	0	5	35				
NTF4	4909	broad.mit.edu	37	19	49564715	49564715	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:49564715C>G	ENST00000593537.1	-	1	539	c.540G>C	c.(538-540)ttG>ttC	p.L180F	CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000594938.1_5'Flank|CTB-60B18.18_ENST00000599209.1_lincRNA|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.L180F|NTF4_ENST00000451356.2_Intron			P34130	NTF4_HUMAN	neurotrophin 4	180					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.L180F(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CATCAGCGGTCAATGCCCGCA	0.657																																							uc002pmf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(538-540)TTG>TTC		neurotrophin 5 preproprotein							43.0	37.0	39.0					19																	49564715		2203	4298	6501	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564715C>G		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.540G>C	19.37:g.49564715C>G	ENSP00000469455:p.Leu180Phe					CGB7_uc010yah.1_Intron	p.L180F	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	681	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	180					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.540G>C	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872744	0.33069	.	.	ENSG00000167744	ENST00000301411	T	0.75938	-0.98	3.27	2.23	0.28157	Nerve growth factor-related (5);	0.000000	0.53938	D	0.000045	D	0.82742	0.5103	M	0.78049	2.395	0.49389	D	0.999781	D	0.89917	1.0	D	0.85130	0.997	T	0.81998	-0.0675	10	0.87932	D	0	0.0025	6.8558	0.24040	0.0:0.7126:0.1797:0.1077	.	180	P34130	NTF4_HUMAN	F	180	ENSP00000301411:L180F	ENSP00000301411:L180F	L	-	3	2	NTF4	54256527	0.977000	0.34250	0.552000	0.28243	0.453000	0.32348	0.071000	0.14594	0.959000	0.37980	0.313000	0.20887	TTG		0.657	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		5	91	0	0	0	0.000602	0	5	91				
LENG1	79165	broad.mit.edu	37	19	54663367	54663367	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:54663367C>T	ENST00000222224.3	-	1	253	c.67G>A	c.(67-69)Gac>Aac	p.D23N		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	23								p.D23N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGGCCTCGTCACGCCGCACG	0.677																																							uc002qdm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)GAC>AAC		leukocyte receptor cluster (LRC) member 1							32.0	26.0	28.0					19																	54663367		2203	4300	6503	SO:0001583	missense	79165							g.chr19:54663367C>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.67G>A	19.37:g.54663367C>T	ENSP00000222224:p.Asp23Asn						p.D23N	NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN			1	80	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		23			Potential.		Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	c.67G>A	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818002	0.96982	.	.	ENSG00000105617	ENST00000222224	D	0.83673	-1.75	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95093	0.8223	10	0.87932	D	0	-39.2794	17.1323	0.86729	0.0:1.0:0.0:0.0	.	23	Q96BZ8	LENG1_HUMAN	N	23	ENSP00000222224:D23N	ENSP00000222224:D23N	D	-	1	0	LENG1	59355179	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.617000	0.74210	2.657000	0.90304	0.650000	0.86243	GAC		0.677	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		6	10	0	0	0	0.001984	0	6	10				
ZNF544	27300	broad.mit.edu	37	19	58773673	58773673	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:58773673G>C	ENST00000596652.1	+	6	1935	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H	ZNF544_ENST00000599953.1_Missense_Mutation_p.Q425H|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q567H|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q539H|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	567					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)	p.Q567H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATACATCAGAGAATTCATA	0.418																																							uc010euo.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1699-1701)CAG>CAC		zinc finger protein 544							84.0	86.0	85.0					19																	58773673		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773673G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1701G>C	19.37:g.58773673G>C	ENSP00000469635:p.Gln567His					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q539H|ZNF544_uc010yhy.1_Missense_Mutation_p.Q539H|ZNF544_uc002qrt.3_Missense_Mutation_p.Q425H|ZNF544_uc002qru.3_Missense_Mutation_p.Q425H|uc002qrx.1_Intron	p.Q567H	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2175	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	567			C2H2-type 8.		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1701G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	6.890	0.533772	0.13188	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.36520	1.25;1.25	3.2	-5.98	0.02220	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36358	0.0964	L	0.39633	1.23	0.80722	D	1	D;P;P	0.65815	0.995;0.881;0.806	P;B;B	0.58331	0.837;0.284;0.284	T	0.53041	-0.8494	9	0.54805	T	0.06	.	7.3629	0.26756	0.161:0.0:0.7281:0.1109	.	539;539;567	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	567;539	ENSP00000269829:Q567H;ENSP00000394341:Q539H	ENSP00000269829:Q567H	Q	+	3	2	ZNF544	63465485	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.165000	0.09968	-1.273000	0.02424	-0.351000	0.07748	CAG		0.418	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		6	125	0	0	0	0.001984	0	6	125				
ZNF324	25799	broad.mit.edu	37	19	58983439	58983439	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:58983439C>T	ENST00000536459.2	+	4	2289	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	ZNF324_ENST00000196482.3_Missense_Mutation_p.S527L|ZNF324_ENST00000535298.1_Missense_Mutation_p.S304L|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S527L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCGGGGCATCATCAGAAGGT	0.692																																							uc002qsw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1579-1581)TCA>TTA		zinc finger protein 324							31.0	34.0	33.0					19																	58983439		2202	4299	6501	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983439C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1580C>T	19.37:g.58983439C>T	ENSP00000444812:p.Ser527Leu					ZNF324_uc002qsx.1_Missense_Mutation_p.S304L	p.S527L	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1674	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	527					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1580C>T	CCDS12981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.986490|2.986490	0.53934|0.53934	.|.	.|.	ENSG00000083812|ENSG00000083812	ENST00000539101|ENST00000196482;ENST00000536459;ENST00000535298	.|T;T;T	.|0.06608	.|3.37;3.37;3.28	3.33|3.33	1.18|1.18	0.20946|0.20946	.|.	.|0.644924	.|0.12245	.|N	.|0.486147	T|T	0.03390|0.03390	0.0098|0.0098	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.40664|0.40664	-0.9551|-0.9551	6|10	0.87932|0.66056	D|D	0|0.02	.|.	6.303|6.303	0.21123|0.21123	0.0:0.7961:0.0:0.2039|0.0:0.7961:0.0:0.2039	.|.	.|527	.|O75467	.|Z324A_HUMAN	Y|L	516|527;527;304	.|ENSP00000196482:S527L;ENSP00000444812:S527L;ENSP00000439588:S304L	ENSP00000442897:H516Y|ENSP00000196482:S527L	H|S	+|+	1|2	0|0	ZNF324|ZNF324	63675251|63675251	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	.|.	.|.	0.413000|0.413000	0.25759|0.25759	0.505000|0.505000	0.49811|0.49811	CAT|TCA		0.692	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		5	41	0	0	0	0.000602	0	5	41				
ACP1	52	broad.mit.edu	37	2	277226	277226	+	Splice_Site	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:277226G>T	ENST00000272065.5	+	6	492		c.e6-1		ACP1_ENST00000272067.6_Splice_Site|ACP1_ENST00000484464.1_Splice_Site	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TGTCCATTTAGGGGAATGACT	0.458																																							uc002qwg.2		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e6-1		acid phosphatase 1, soluble isoform b							144.0	142.0	143.0					2																	277226		2203	4300	6503	SO:0001630	splice_region_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:277226G>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.400-1G>T	2.37:g.277226G>T						ACP1_uc002qwh.2_Splice_Site|ACP1_uc002qwf.2_Splice_Site_p.G134_splice	p.G134_splice	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	6	496	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)						A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Splice_Site	SNP	ENST00000272065.5	37	c.400_splice	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747679	0.69533	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	.	.	.	5.62	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.914	0.63885	0.0:0.0:0.8466:0.1534	.	.	.	.	.	-1	.	.	.	+	.	.	ACP1	267226	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	7.170000	0.77587	1.378000	0.46305	-0.122000	0.15005	.		0.458	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3		Intron	51	156	1	0	1.04682e-39	0.01441	1.31128e-39	51	156				
PXDN	7837	broad.mit.edu	37	2	1652006	1652006	+	Silent	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:1652006T>A	ENST00000252804.4	-	17	3596	c.3546A>T	c.(3544-3546)gcA>gcT	p.A1182A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1182					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A1182A(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGAACGTGTGTGCCGCCGATA	0.572																																							uc002qxa.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3544-3546)GCA>GCT		peroxidasin precursor							117.0	126.0	123.0					2																	1652006		1988	4171	6159	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652006T>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3546A>T	2.37:g.1652006T>A							p.A1182A	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3610	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1182					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3546A>T	CCDS46221.1																																																																																				0.572	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		40	142	0	0	0	0.01441	0	40	142				
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:24260579G>C	ENST00000295148.4	-	2	1843	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	596								p.Q596E(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGATCTTGAGAGAGTGGA	0.403			T	ALK	NSCLC																																		uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1786-1788)CAA>GAA		hypothetical protein LOC80304 isoform 1							124.0	125.0	125.0					2																	24260579		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24260579G>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1786C>G	2.37:g.24260579G>C	ENSP00000295148:p.Gln596Glu					C2orf44_uc010eya.2_Missense_Mutation_p.Q596E	p.Q596E	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1917	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		596					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1786C>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448640	0.12223	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.41400	1.0;1.0	5.65	0.424	0.16468	.	0.865887	0.10529	N	0.664003	T	0.32133	0.0819	L	0.35414	1.06	0.19945	N	0.999944	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.23940	-1.0174	10	0.36615	T	0.2	0.0262	12.1215	0.53893	0.0:0.4375:0.3372:0.2254	.	596;596	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	E	596	ENSP00000295148:Q596E;ENSP00000385816:Q596E	ENSP00000295148:Q596E	Q	-	1	0	C2orf44	24114083	0.000000	0.05858	0.013000	0.15412	0.256000	0.26092	0.328000	0.19681	-0.121000	0.11787	-0.127000	0.14921	CAA		0.403	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		13	215	0	0	0	0.003163	0	13	215				
DRC1	92749	broad.mit.edu	37	2	26624954	26624954	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:26624954C>G	ENST00000288710.2	+	1	171	c.97C>G	c.(97-99)Cag>Gag	p.Q33E		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	33					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.Q33E(1)									CGACAACTCTCAGGAGCGCAT	0.716																																							uc002rhg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(97-99)CAG>GAG		hypothetical protein LOC92749							28.0	26.0	27.0					2																	26624954		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26624954C>G	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.97C>G	2.37:g.26624954C>G	ENSP00000288710:p.Gln33Glu					C2orf39_uc010eym.1_RNA	p.Q33E	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			1	171	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		33					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.97C>G	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043275	0.36085	.	.	ENSG00000157856	ENST00000288710	T	0.12465	2.68	5.13	3.25	0.37280	.	0.096306	0.44902	D	0.000412	T	0.07413	0.0187	N	0.20530	0.585	0.28232	N	0.92607	P	0.35155	0.487	B	0.30943	0.122	T	0.27806	-1.0063	10	0.12103	T	0.63	-24.3101	11.4462	0.50125	0.0:0.6475:0.3525:0.0	.	33	Q96MC2	CC164_HUMAN	E	33	ENSP00000288710:Q33E	ENSP00000288710:Q33E	Q	+	1	0	CCDC164	26478458	0.537000	0.26386	0.875000	0.34327	0.788000	0.44548	0.435000	0.21510	0.674000	0.31244	0.650000	0.86243	CAG		0.716	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		3	27	0	0	0	0.009096	0	3	27				
EHD3	30845	broad.mit.edu	37	2	31489172	31489172	+	Missense_Mutation	SNP	C	C	T	rs183394828	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:31489172C>T	ENST00000322054.5	+	6	1495	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	404					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.R404W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGAGTCACAGCGGCCCATCCA	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19658	0.0		0.0	False		,,,				2504	0.0						uc002rnu.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)	2						c.(1210-1212)CGG>TGG		EH-domain containing 3							62.0	59.0	60.0					2																	31489172		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489172C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1210C>T	2.37:g.31489172C>T	ENSP00000327116:p.Arg404Trp					EHD3_uc010ymt.1_3'UTR	p.R404W	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			6	1818	+	Acute lymphoblastic leukemia(172;0.155)		404					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1210C>T	CCDS1774.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	15.34	2.805695	0.50315	.	.	ENSG00000013016	ENST00000322054	T	0.18502	2.21	5.84	2.94	0.34122	.	0.224665	0.46145	N	0.000305	T	0.06554	0.0168	N	0.19112	0.55	0.80722	D	1	B	0.33379	0.41	B	0.25140	0.058	T	0.17684	-1.0361	10	0.66056	D	0.02	-18.5698	9.2477	0.37536	0.4743:0.4603:0.0:0.0655	.	404	Q9NZN3	EHD3_HUMAN	W	404	ENSP00000327116:R404W	ENSP00000327116:R404W	R	+	1	2	EHD3	31342676	0.892000	0.30473	0.997000	0.53966	0.974000	0.67602	0.495000	0.22483	0.790000	0.33803	0.561000	0.74099	CGG		0.627	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		13	58	0	0	0	0.001855	0	13	58				
ASPRV1	151516	broad.mit.edu	37	2	70188284	70188284	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:70188284G>A	ENST00000320256.4	-	1	1113	c.537C>T	c.(535-537)ccC>ccT	p.P179P	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.P179P(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587																																							uc002sfz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(535-537)CCC>CCT		aspartic peptidase, retroviral-like 1 precursor							45.0	50.0	48.0					2																	70188284		2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188284G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.537C>T	2.37:g.70188284G>A							p.P179P	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	1114	-			179			Extracellular (Potential).			Silent	SNP	ENST00000320256.4	37	c.537C>T	CCDS1897.1																																																																																				0.587	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		3	90	0	0	0	0.001168	0	3	90				
FAM136A	84908	broad.mit.edu	37	2	70528037	70528037	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:70528037C>G	ENST00000037869.3	-	2	241	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	FAM136A_ENST00000450256.1_3'UTR|AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000430566.1_Missense_Mutation_p.E162Q	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	55						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.E55Q(1)|p.E55*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGCAGCGCTCGATGCACTGG	0.572																																							uc002sgq.3		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(163-165)GAG>CAG		hypothetical protein LOC84908							100.0	101.0	101.0					2																	70528037		2203	4300	6503	SO:0001583	missense	84908					mitochondrion	protein binding	g.chr2:70528037C>G	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.163G>C	2.37:g.70528037C>G	ENSP00000037869:p.Glu55Gln					FAM136A_uc010fdp.2_RNA	p.E55Q	NM_032822	NP_116211	Q96C01	F136A_HUMAN			2	240	-			55					Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	c.163G>C	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113968	0.77210	.	.	ENSG00000035141	ENST00000037869;ENST00000430566;ENST00000438759	.	.	.	5.01	5.01	0.66863	.	0.153716	0.56097	D	0.000022	T	0.72534	0.3472	M	0.80422	2.495	0.80722	D	1	P	0.41710	0.76	P	0.48400	0.576	T	0.72124	-0.4385	9	0.30854	T	0.27	.	17.2464	0.87029	0.0:1.0:0.0:0.0	.	55	Q96C01	F136A_HUMAN	Q	55;162;125	.	ENSP00000037869:E55Q	E	-	1	0	FAM136A	70381541	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.261000	0.78400	2.475000	0.83589	0.555000	0.69702	GAG		0.572	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		31	177	0	0	0	0.009535	0	31	177				
CTNNA2	1496	broad.mit.edu	37	2	80101241	80101241	+	Missense_Mutation	SNP	G	G	A	rs370270410		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:80101241G>A	ENST00000402739.4	+	5	630	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A243T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A209T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	209					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A209T(4)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGGCAGCCGCCCGAGGGGC	0.512																																							uc010ysh.1		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(625-627)GCC>ACC		catenin, alpha 2 isoform 1							41.0	45.0	44.0					2																	80101241		2024	4190	6214	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101241G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.625G>A	2.37:g.80101241G>A	ENSP00000384638:p.Ala209Thr					CTNNA2_uc010yse.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysf.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysg.1_Missense_Mutation_p.A209T	p.A209T	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	630	+			209					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.589614	0.96590	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77183	-0.2681	10	0.87932	D	0	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	209;209;209	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	209;209;243;209;209;209	ENSP00000418191:A209T;ENSP00000419295:A209T;ENSP00000355398:A243T;ENSP00000384638:A209T;ENSP00000444675:A209T;ENSP00000441705:A209T	ENSP00000355398:A243T	A	+	1	0	CTNNA2	79954749	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.869000	0.99810	2.693000	0.91896	0.650000	0.86243	GCC		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		14	48	0	0	0	0.00245	0	14	48				
SNRNP200	23020	broad.mit.edu	37	2	96949642	96949642	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:96949642T>C	ENST00000323853.5	-	32	4570	c.4493A>G	c.(4492-4494)aAg>aGg	p.K1498R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1498	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.K1498R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCCACATCCTTGGCATTGGA	0.587																																							uc002svu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4492-4494)AAG>AGG		activating signal cointegrator 1 complex subunit							51.0	39.0	43.0					2																	96949642		2203	4299	6502	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96949642T>C	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4493A>G	2.37:g.96949642T>C	ENSP00000317123:p.Lys1498Arg					SNRNP200_uc002svt.2_Missense_Mutation_p.K108R|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.K25R	p.K1498R	NM_014014	NP_054733	O75643	U520_HUMAN			32	4579	-			1498			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4493A>G	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	7.704	0.693728	0.15039	.	.	ENSG00000144028	ENST00000323853;ENST00000543553	T	0.34275	1.37	5.12	5.12	0.69794	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.03967	-0.31	0.80722	D	1	B;B	0.16396	0.017;0.001	B;B	0.21546	0.035;0.009	T	0.11131	-1.0600	10	0.02654	T	1	-24.5602	13.9114	0.63869	0.0:0.0:0.0:1.0	.	1249;1498	A4FU77;O75643	.;U520_HUMAN	R	1498;81	ENSP00000317123:K1498R	ENSP00000317123:K1498R	K	-	2	0	SNRNP200	96313369	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.827000	0.62723	1.939000	0.56221	0.459000	0.35465	AAG		0.587	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		7	12	0	0	0	0.00308	0	7	12				
GCC2	9648	broad.mit.edu	37	2	109116083	109116083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:109116083G>C	ENST00000309863.6	+	22	5571	c.4857G>C	c.(4855-4857)ttG>ttC	p.L1619F		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1619	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.|Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.L1619F(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGGAATACTTGAAGAACGTCT	0.393																																							uc002tec.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4855-4857)TTG>TTC		GRIP and coiled-coil domain-containing 2							154.0	157.0	156.0					2																	109116083		2201	4278	6479	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109116083G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4857G>C	2.37:g.109116083G>C	ENSP00000307939:p.Leu1619Phe					GCC2_uc002ted.2_Missense_Mutation_p.L1518F	p.L1619F	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			22	5011	+			1619			Mediates interaction with RAB9A.|GRIP.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4857G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.179723	0.78564	.	.	ENSG00000135968	ENST00000309863	T	0.74209	-0.82	5.16	5.16	0.70880	GRIP (3);	0.000000	0.64402	D	0.000004	D	0.89114	0.6623	M	0.90425	3.115	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91266	0.5040	10	0.72032	D	0.01	.	18.66	0.91469	0.0:0.0:1.0:0.0	.	1619	Q8IWJ2	GCC2_HUMAN	F	1619	ENSP00000307939:L1619F	ENSP00000307939:L1619F	L	+	3	2	GCC2	108482515	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.252000	0.78309	2.399000	0.81585	0.550000	0.68814	TTG		0.393	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		4	305	0	0	0	0.000602	0	4	305				
SLC20A1	6574	broad.mit.edu	37	2	113414815	113414815	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:113414815G>A	ENST00000272542.3	+	6	1314	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	259					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.E259K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GAGAAAAATTGAACGTAAGTA	0.378																																							uc002tib.2		NA																	1	Substitution - Missense(1)	p.E259V(1)	lung(1)	ovary(2)	2						c.(775-777)GAA>AAA		solute carrier family 20 (phosphate							116.0	115.0	115.0					2																	113414815		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113414815G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.775G>A	2.37:g.113414815G>A	ENSP00000272542:p.Glu259Lys					SLC20A1_uc002tic.1_Missense_Mutation_p.E71K	p.E259K	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			6	1221	+			259			Cytoplasmic (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.775G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345116	0.41498	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90563	-2.69	5.78	5.78	0.91487	.	0.136165	0.64402	D	0.000004	D	0.82669	0.5087	N	0.20610	0.595	0.58432	D	0.999992	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.76921	-0.2780	10	0.06236	T	0.91	-26.9741	17.496	0.87717	0.0:0.0:1.0:0.0	.	259;259	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	K	259;71	ENSP00000272542:E259K	ENSP00000272542:E259K	E	+	1	0	SLC20A1	113131286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.738000	0.93877	0.655000	0.94253	GAA		0.378	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		5	78	0	0	0	0.001984	0	5	78				
ERCC3	2071	broad.mit.edu	37	2	128018852	128018852	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:128018852G>A	ENST00000285398.2	-	13	2110	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y	ERCC3_ENST00000493187.2_Silent_p.Y608Y	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	672	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.Y672Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCTTGGTTGAGTAAGCCATTT	0.438			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(2014-2016)TAC>TAT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							194.0	160.0	172.0					2																	128018852		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128018852G>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.2016C>T	2.37:g.128018852G>A						ERCC3_uc002toe.1_Silent_p.Y427Y|ERCC3_uc002tof.1_Silent_p.Y608Y|ERCC3_uc002tog.1_Silent_p.Y608Y	p.Y672Y	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	13	2111	-	Colorectal(110;0.1)		672			Helicase C-terminal.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.2016C>T	CCDS2144.1																																																																																				0.438	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		4	100	0	0	0	0.009096	0	4	100				
TUBA3E	112714	broad.mit.edu	37	2	130951907	130951907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:130951907C>A	ENST00000312988.7	-	4	608	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	170					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A170S(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGGTAAATGGCAAACTCTAGC	0.567																																							uc002tqv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(508-510)GCC>TCC		tubulin, alpha 3e							94.0	101.0	99.0					2																	130951907		2202	4298	6500	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951907C>A	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.508G>T	2.37:g.130951907C>A	ENSP00000318197:p.Ala170Ser						p.A170S	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	609	-	Colorectal(110;0.1)		170						Missense_Mutation	SNP	ENST00000312988.7	37	c.508G>T	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	6.844	0.524991	0.13066	.	.	ENSG00000152086	ENST00000312988	T	0.66815	-0.23	2.71	2.71	0.32032	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.49916	U	0.000140	T	0.31136	0.0787	N	0.01535	-0.81	0.34055	D	0.65655	B	0.02656	0.0	B	0.13407	0.009	T	0.32981	-0.9886	10	0.10636	T	0.68	.	6.9882	0.24741	0.2722:0.7278:0.0:0.0	.	170	Q6PEY2	TBA3E_HUMAN	S	170	ENSP00000318197:A170S	ENSP00000318197:A170S	A	-	1	0	TUBA3E	130668377	0.930000	0.31532	0.997000	0.53966	0.841000	0.47740	-0.126000	0.10563	1.540000	0.49301	0.449000	0.29647	GCC		0.567	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		24	125	1	0	7.26314e-15	0.007291	8.50145e-15	24	125				
TUBA3D	113457	broad.mit.edu	37	2	132237774	132237774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:132237774G>T	ENST00000321253.6	+	4	615	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	170					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A170S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTAGAGTTTGCCATTTACCC	0.577																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GCC>TCC		tubulin, alpha 3d							118.0	131.0	127.0					2																	132237774		2202	4299	6501	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237774G>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.508G>T	2.37:g.132237774G>T	ENSP00000326042:p.Ala170Ser						p.A170S	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	615	+			170					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.508G>T	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	4.400	0.073806	0.08485	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.66815	-0.23	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.45606	U	0.000347	T	0.27419	0.0673	N	0.00783	-1.19	0.32771	N	0.503756	B	0.06786	0.001	B	0.16289	0.015	T	0.30149	-0.9988	10	0.09590	T	0.72	.	6.1751	0.20439	0.0:0.0:0.6998:0.3002	.	170	Q13748	TBA3C_HUMAN	S	170	ENSP00000326042:A170S	ENSP00000326042:A170S	A	+	1	0	TUBA3D	131954244	0.995000	0.38212	0.998000	0.56505	0.662000	0.39071	0.140000	0.16056	1.243000	0.43853	0.194000	0.17425	GCC		0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		13	336	1	0	2.89027e-11	0.014323	3.27564e-11	13	336				
LRP1B	53353	broad.mit.edu	37	2	140992396	140992396	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:140992396T>C	ENST00000389484.3	-	90	14589	c.13618A>G	c.(13618-13620)Atc>Gtc	p.I4540V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4540					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.I4540V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tttaggtagatgggcggcgct	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13618-13620)ATC>GTC		low density lipoprotein-related protein 1B							111.0	109.0	110.0					2																	140992396		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992396T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13618A>G	2.37:g.140992396T>C	ENSP00000374135:p.Ile4540Val	TSP Lung(27;0.18)					p.I4540V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	90	14590	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4540			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13618A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472214	0.43942	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89617	-2.54	5.24	4.09	0.47781	.	0.476478	0.20416	N	0.092766	T	0.79149	0.4397	L	0.36672	1.1	0.22639	N	0.998902	B	0.02656	0.0	B	0.01281	0.0	T	0.59984	-0.7351	10	0.02654	T	1	.	7.8659	0.29537	0.0:0.0921:0.0:0.9079	.	4540	Q9NZR2	LRP1B_HUMAN	V	4540;4478	ENSP00000374135:I4540V	ENSP00000374135:I4540V	I	-	1	0	LRP1B	140708866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	1.118000	0.41863	0.528000	0.53228	ATC		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	22	0	0	0	0.003163	0	11	22				
SLC4A10	57282	broad.mit.edu	37	2	162735721	162735721	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:162735721T>A	ENST00000446997.1	+	9	1122	c.1029T>A	c.(1027-1029)gaT>gaA	p.D343E	SLC4A10_ENST00000415876.2_Missense_Mutation_p.D313E|SLC4A10_ENST00000535165.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D313E|SLC4A10_ENST00000375514.5_Missense_Mutation_p.D324E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	343					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.D343E(1)|p.D313E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGTTCTTGGATCGAACAGTAG	0.443																																							uc002ubx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1027-1029)GAT>GAA		solute carrier family 4, sodium bicarbonate							157.0	155.0	156.0					2																	162735721		1900	4126	6026	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162735721T>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1029T>A	2.37:g.162735721T>A	ENSP00000393066:p.Asp343Glu					SLC4A10_uc010fpa.1_Missense_Mutation_p.D355E|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.D313E|SLC4A10_uc010zcs.1_Missense_Mutation_p.D324E	p.D343E	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			9	1213	+			343			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1029T>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353686	0.24512	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.55	-3.87	0.04218	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.135280	0.64402	N	0.000003	T	0.44393	0.1291	N	0.04043	-0.29	0.47862	D	0.999532	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.12156	0.003;0.004;0.003;0.007	T	0.36040	-0.9764	10	0.06494	T	0.89	.	7.2482	0.26133	0.1232:0.6084:0.1245:0.1439	.	324;343;313;343	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	E	324;313;343;313;312;343;343;342	ENSP00000364664:D324E;ENSP00000395797:D313E;ENSP00000437527:D343E;ENSP00000272716:D313E;ENSP00000393066:D343E;ENSP00000404486:D343E	ENSP00000272716:D313E	D	+	3	2	SLC4A10	162443967	0.856000	0.29760	0.855000	0.33649	0.977000	0.68977	-0.049000	0.11924	-0.607000	0.05738	-0.250000	0.11733	GAT		0.443	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		13	66	0	0	0	0.004007	0	13	66				
GPR155	151556	broad.mit.edu	37	2	175301048	175301048	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:175301048C>G	ENST00000392552.2	-	16	2647	c.2409G>C	c.(2407-2409)gtG>gtC	p.V803V	GPR155_ENST00000295500.4_Silent_p.V803V|GPR155_ENST00000392551.2_Silent_p.V803V|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	803	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V803V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTCCGTATATCACAGCTTCAC	0.483																																							uc002uit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2407-2409)GTG>GTC		G protein-coupled receptor 155 isoform 9							151.0	147.0	149.0					2																	175301048		2203	4300	6503	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301048C>G	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2409G>C	2.37:g.175301048C>G						GPR155_uc002uiu.2_Silent_p.V803V|GPR155_uc002uiv.2_Silent_p.V803V|GPR155_uc010fqs.2_Silent_p.V775V	p.V803V	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			17	2800	-			803			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.2409G>C	CCDS2259.1																																																																																				0.483	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		8	217	0	0	0	0.004482	0	8	217				
TTN	7273	broad.mit.edu	37	2	179425729	179425729	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:179425729A>G	ENST00000591111.1	-	276	80431	c.80207T>C	c.(80206-80208)aTa>aCa	p.I26736T	TTN_ENST00000342992.6_Missense_Mutation_p.I25809T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19504T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I19437T|TTN_ENST00000460472.2_Missense_Mutation_p.I19312T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I28377T			Q8WZ42	TITIN_HUMAN	titin	26736	Ig-like 128.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I25809T(1)|p.I19504T(1)|p.I25807T(1)|p.I19437T(1)|p.I19312T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGCATTTATCTTAAGGAC	0.428																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(77425-77427)ATA>ACA		titin isoform N2-A							177.0	164.0	168.0					2																	179425729		1925	4124	6049	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425729A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80207T>C	2.37:g.179425729A>G	ENSP00000465570:p.Ile26736Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I19504T|TTN_uc010zfi.1_Missense_Mutation_p.I19437T|TTN_uc010zfj.1_Missense_Mutation_p.I19312T	p.I25809T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77650	-			26736					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77426T>C		.	.	.	.	.	.	.	.	.	.	A	13.93	2.383795	0.42308	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79476	0.4452	M	0.90870	3.155	0.58432	D	0.999997	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	P;P;P;P	0.46419	0.516;0.516;0.516;0.506	D	0.84381	0.0549	9	0.87932	D	0	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	19312;19437;19504;26736	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25809;19312;19504;19437;19310	ENSP00000343764:I25809T;ENSP00000434586:I19312T;ENSP00000340554:I19504T;ENSP00000352154:I19437T	ENSP00000340554:I19504T	I	-	2	0	TTN	179133975	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.339000	0.96797	2.195000	0.70347	0.533000	0.62120	ATA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		72	115	0	0	0	0.01441	0	72	115				
SDPR	8436	broad.mit.edu	37	2	192700900	192700900	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:192700900C>T	ENST00000304141.4	-	2	1356	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T		NM_004657.5	NP_004648.1			serum deprivation response									p.A343T(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			AGAGCGCTGGCGAGGGACGCT	0.552																																							uc002utb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1027-1029)GCC>ACC		serum deprivation response protein	Phosphatidylserine(DB00144)						105.0	105.0	105.0					2																	192700900		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700900C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1027G>A	2.37:g.192700900C>T	ENSP00000305675:p.Ala343Thr						p.A343T	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1357	-			343						Missense_Mutation	SNP	ENST00000304141.4	37	c.1027G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	3.146	-0.175231	0.06421	.	.	ENSG00000168497	ENST00000304141	T	0.62788	0.0	4.75	-9.49	0.00587	.	1.293790	0.05029	N	0.474275	T	0.21509	0.0518	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	10	0.02654	T	1	-0.1359	2.9049	0.05718	0.1302:0.1592:0.3287:0.3818	.	343	O95810	SDPR_HUMAN	T	343	ENSP00000305675:A343T	ENSP00000305675:A343T	A	-	1	0	SDPR	192409145	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.800000	0.01744	-1.719000	0.01382	-1.018000	0.02450	GCC		0.552	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		59	189	0	0	0	0.01441	0	59	189				
CLK1	1195	broad.mit.edu	37	2	201718134	201718134	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:201718134G>C	ENST00000321356.4	-	13	1485	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	CLK1_ENST00000434813.2_Silent_p.L492L|CLK1_ENST00000409769.2_Silent_p.L273L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L492L(1)|p.L450L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAGGTCAAAGAGACGCTCAT	0.363																																							uc002uwe.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)	2						c.(1348-1350)CTC>CTG		CDC-like kinase 1 isoform 1							85.0	84.0	85.0					2																	201718134		2203	4300	6503	SO:0001819	synonymous_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201718134G>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1350C>G	2.37:g.201718134G>C						CLK1_uc002uwd.2_Silent_p.L273L|CLK1_uc010zhi.1_Silent_p.L492L|CLK1_uc002uwf.2_Silent_p.L224L|CLK1_uc002uwg.2_Silent_p.L299L|CLK1_uc010fsv.2_RNA	p.L450L	NM_004071	NP_004062	P49759	CLK1_HUMAN			13	1531	-			450			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	c.1350C>G	CCDS2331.1																																																																																				0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			8	93	0	0	0	0.00308	0	8	93				
CDK15	65061	broad.mit.edu	37	2	202737000	202737000	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:202737000G>A	ENST00000374598.4	+	11	1009		c.e11-1		CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000450471.2_Splice_Site			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ATGCTTCCCAGAATGGTTCCC	0.433																																							uc002uyt.2		NA																	1	Unknown(1)		lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.e11-1		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						142.0	142.0	142.0					2																	202737000		2203	4300	6503	SO:0001630	splice_region_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202737000G>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1010-1G>A	2.37:g.202737000G>A						CDK15_uc010ftm.2_Splice_Site_p.E202_splice|CDK15_uc002uys.2_Splice_Site_p.E286_splice|CDK15_uc010ftn.1_Splice_Site_p.E286_splice|CDK15_uc002uyu.1_Intron	p.E337_splice	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			11	1059	+								A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Splice_Site	SNP	ENST00000374598.4	37	c.1010_splice		.	.	.	.	.	.	.	.	.	.	G	17.27	3.346666	0.61073	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK15	202445245	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.235000	0.58666	2.880000	0.98712	0.650000	0.86243	.		0.433	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2		Intron	4	130	0	0	0	0.009096	0	4	130				
MAP2	4133	broad.mit.edu	37	2	210557842	210557842	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:210557842C>T	ENST00000360351.4	+	7	1454	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.P312P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	316					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P316P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGCCAAGTCCCTTTCAAGGGG	0.448																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(946-948)CCC>CCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						68.0	70.0	69.0					2																	210557842		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210557842C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.948C>T	2.37:g.210557842C>T						MAP2_uc002vdc.1_Silent_p.P316P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P312P	p.P316P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1196	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	316					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.948C>T	CCDS2384.1																																																																																				0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		43	83	0	0	0	0.011902	0	43	83				
MAP2	4133	broad.mit.edu	37	2	210570428	210570428	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:210570428C>T	ENST00000360351.4	+	11	5215	c.4709C>T	c.(4708-4710)tCt>tTt	p.S1570F	MAP2_ENST00000392194.1_Missense_Mutation_p.S214F|MAP2_ENST00000199940.6_Missense_Mutation_p.S271F|MAP2_ENST00000361559.4_Missense_Mutation_p.S214F|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.S1566F	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1570					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S1570F(1)|p.S271F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGTTCTATCTCTTCTTCAGCA	0.418																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4708-4710)TCT>TTT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						146.0	149.0	148.0					2																	210570428		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210570428C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4709C>T	2.37:g.210570428C>T	ENSP00000353508:p.Ser1570Phe					MAP2_uc002vdd.1_Missense_Mutation_p.S271F|MAP2_uc002vdf.1_Missense_Mutation_p.S214F|MAP2_uc002vdg.1_Missense_Mutation_p.S214F|MAP2_uc002vdh.1_Missense_Mutation_p.S271F|MAP2_uc002vdi.1_Missense_Mutation_p.S1566F	p.S1570F	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	11	4957	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1570					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4709C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260523	0.80246	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.21191	2.02;2.92;2.14;2.14;2.92	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000053	T	0.33206	0.0855	L	0.29908	0.895	0.58432	D	0.999998	D;P;D;D;D	0.89917	1.0;0.852;0.996;0.999;0.998	D;P;D;D;D	0.91635	0.999;0.61;0.982;0.997;0.994	T	0.04203	-1.0969	10	0.17369	T	0.5	-5.4949	17.0645	0.86556	0.0:1.0:0.0:0.0	.	1566;214;215;1570;271	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	F	271;1570;214;214;1566	ENSP00000199940:S271F;ENSP00000353508:S1570F;ENSP00000355290:S214F;ENSP00000376032:S214F;ENSP00000392164:S1566F	ENSP00000199940:S271F	S	+	2	0	MAP2	210278673	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	5.882000	0.69714	2.269000	0.75478	0.591000	0.81541	TCT		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		20	80	0	0	0	0.005443	0	20	80				
CCDC108	255101	broad.mit.edu	37	2	219896286	219896286	+	Missense_Mutation	SNP	C	C	T	rs376689400		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:219896286C>T	ENST00000341552.5	-	7	823	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R247H|CCDC108_ENST00000409865.3_Missense_Mutation_p.R236H|CCDC108_ENST00000410037.1_Missense_Mutation_p.R182H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R247H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	247						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R247H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGGTGGGCGGCAGATCAG	0.607																																							uc002vjl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(739-741)CGC>CAC		coiled-coil domain containing 108 isoform 1		C	HIS/ARG	0,4406		0,0,2203	137.0	139.0	138.0		740		0.7	2		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC108	NM_194302.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	247/1926	219896286	1,13005	2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219896286C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.740G>A	2.37:g.219896286C>T	ENSP00000340776:p.Arg247His					CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.R236H|CCDC108_uc010zkq.1_Missense_Mutation_p.R182H	p.R247H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	824	-		Renal(207;0.0915)	247					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.740G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283146	0.01398	0.0	1.16E-4	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07021	3.54;3.54;3.54;3.23;3.25	.	.	.	PapD-like (1);	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.48186	-0.9057	5	0.44086	T	0.13	.	.	.	.	.	236;247	E9PG25;Q6ZU64	.;CC108_HUMAN	H	247;247;247;236;182;181	ENSP00000340776:R247H;ENSP00000413377:R247H;ENSP00000409117:R247H;ENSP00000386945:R236H;ENSP00000386258:R182H	ENSP00000340776:R247H	R	-	2	0	CCDC108	219604530	0.999000	0.42202	0.690000	0.30148	0.104000	0.19210	0.116000	0.15561	0.119000	0.18210	0.121000	0.15741	CGC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		50	198	0	0	0	0.01441	0	50	198				
COL6A3	1293	broad.mit.edu	37	2	238249550	238249550	+	Missense_Mutation	SNP	G	G	A	rs142851023		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:238249550G>A	ENST00000295550.4	-	38	8461	c.8009C>T	c.(8008-8010)gCg>gTg	p.A2670V	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2470V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2063V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2469V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2464V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2464V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2670	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2670V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCAGAGGGCGCGTGCTGCAC	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19190	0.0		0.0	False		,,,				2504	0.0						uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8008-8010)GCG>GTG		alpha 3 type VI collagen isoform 1 precursor		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	92.0	87.0	89.0		8009,6188,7391	4.3	0.0	2	dbSNP_134	89	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	64,64,64	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging,probably-damaging,probably-damaging	2670/3178,2063/2571,2464/2972	238249550	5,13001	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249550G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8009C>T	2.37:g.238249550G>A	ENSP00000295550:p.Ala2670Val					COL6A3_uc002vwo.2_Missense_Mutation_p.A2464V|COL6A3_uc010znj.1_Missense_Mutation_p.A2063V|COL6A3_uc002vwj.2_Missense_Mutation_p.A51V	p.A2670V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8294	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2670			VWFA 12.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8009C>T	CCDS33412.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.176	1.022341	0.19433	0.0	5.81E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.16	4.28	0.50868	von Willebrand factor, type A (3);	0.549745	0.16120	N	0.228691	T	0.44329	0.1288	M	0.79926	2.475	0.45946	D	0.99877	D;D;D	0.89917	0.973;0.966;1.0	P;P;D	0.72075	0.699;0.45;0.976	T	0.46119	-0.9214	10	0.72032	D	0.01	.	14.2519	0.66026	0.0727:0.0:0.9273:0.0	.	2063;2464;2670	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2670;2469;2464;2063;2464;2470	ENSP00000295550:A2670V;ENSP00000315609:A2469V;ENSP00000315873:A2464V;ENSP00000418285:A2063V;ENSP00000386844:A2464V;ENSP00000295546:A2470V	ENSP00000295550:A2670V	A	-	2	0	COL6A3	237914289	0.998000	0.40836	0.003000	0.11579	0.008000	0.06430	5.584000	0.67490	1.281000	0.44480	0.655000	0.94253	GCG		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		34	61	0	0	0	0.012213	0	34	61				
C2orf54	79919	broad.mit.edu	37	2	241826542	241826542	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:241826542G>A	ENST00000388934.4	-	5	1447	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	C2orf54_ENST00000307486.8_Missense_Mutation_p.S281F|C2orf54_ENST00000402775.2_Missense_Mutation_p.S262F	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	430								p.S430F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCATGGCAGAGATCCGGTC	0.582																																							uc002wae.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)TCT>TTT		hypothetical protein LOC79919 isoform 1							89.0	92.0	91.0					2																	241826542		1973	4171	6144	SO:0001583	missense	79919							g.chr2:241826542G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1289C>T	2.37:g.241826542G>A	ENSP00000373586:p.Ser430Phe					C2orf54_uc002wac.2_Missense_Mutation_p.S262F|C2orf54_uc002wad.2_Missense_Mutation_p.S281F	p.S430F	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	5	1448	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	430					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.1289C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829288	0.50845	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.54866	0.55;1.1;1.11	4.55	4.55	0.56014	.	0.160540	0.29438	N	0.012158	T	0.54886	0.1886	L	0.34521	1.04	0.09310	N	1	P;P;D	0.55385	0.952;0.952;0.971	P;P;P	0.55391	0.601;0.601;0.775	T	0.51364	-0.8715	10	0.87932	D	0	4.9021	12.8317	0.57750	0.0:0.0:1.0:0.0	.	430;281;262	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	F	262;281;430	ENSP00000385338:S262F;ENSP00000302779:S281F;ENSP00000373586:S430F	ENSP00000302779:S281F	S	-	2	0	C2orf54	241475215	0.397000	0.25270	0.004000	0.12327	0.526000	0.34562	5.236000	0.65354	2.090000	0.63153	0.467000	0.42956	TCT		0.582	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		31	99	0	0	0	0.010818	0	31	99				
HSPA12B	116835	broad.mit.edu	37	20	3726567	3726567	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:3726567G>T	ENST00000254963.2	+	7	709	c.564G>T	c.(562-564)ctG>ctT	p.L188L	HSPA12B_ENST00000542646.1_Silent_p.L22L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	188							ATP binding (GO:0005524)	p.L188L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCAGGAGCTGAGGGAGCAGA	0.597																																							uc002wjd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)CTG>CTT		heat shock 70kD protein 12B							68.0	62.0	64.0					20																	3726567		2203	4300	6503	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3726567G>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.564G>T	20.37:g.3726567G>T						HSPA12B_uc010zqi.1_Silent_p.L187L|HSPA12B_uc002wje.2_Silent_p.L101L|HSPA12B_uc010zqj.1_Silent_p.L22L	p.L188L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			7	667	+			188					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.564G>T	CCDS13061.1																																																																																				0.597	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		9	148	1	0	5.16669e-11	0.010729	5.81863e-11	9	148				
MAVS	57506	broad.mit.edu	37	20	3845224	3845224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:3845224C>T	ENST00000428216.2	+	6	1075	c.947C>T	c.(946-948)cCa>cTa	p.P316L	MAVS_ENST00000416600.2_Missense_Mutation_p.P175L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	316					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P316L(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCCAACCCAGCATCTGTC	0.572																																							uc002wjw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(946-948)CCA>CTA		virus-induced signaling adapter							119.0	105.0	110.0					20																	3845224		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845224C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.947C>T	20.37:g.3845224C>T	ENSP00000401980:p.Pro316Leu					MAVS_uc002wjx.3_Missense_Mutation_p.P175L|MAVS_uc002wjy.3_Missense_Mutation_p.P14L	p.P316L	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			6	1116	+			316			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.947C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768098	0.31320	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.34275	1.37;2.38	4.0	3.05	0.35203	.	1.031970	0.07775	N	0.952348	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	1	P	0.42518	0.782	B	0.37888	0.26	T	0.14699	-1.0463	10	0.72032	D	0.01	0.9977	7.6126	0.28139	0.0:0.881:0.0:0.119	.	316	Q7Z434	MAVS_HUMAN	L	175;316	ENSP00000413749:P175L;ENSP00000401980:P316L	ENSP00000413749:P175L	P	+	2	0	MAVS	3793224	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.332000	0.33805	1.033000	0.39918	-0.339000	0.08088	CCA		0.572	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		16	111	0	0	0	0.008871	0	16	111				
SPTLC3	55304	broad.mit.edu	37	20	13053003	13053003	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:13053003G>T	ENST00000399002.2	+	3	677	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	SPTLC3_ENST00000378194.4_Missense_Mutation_p.G135W	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	135					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.G135W(1)|p.G108W(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CAGTGCCCCAGGGCCTCTGTT	0.438																																							uc002wod.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(403-405)GGG>TGG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						208.0	213.0	211.0					20																	13053003		1833	4080	5913	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13053003G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.403G>T	20.37:g.13053003G>T	ENSP00000381968:p.Gly135Trp						p.G135W	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			3	692	+			135					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.403G>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278676	0.80692	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.48	5.48	0.80851	Pyridoxal phosphate-dependent transferase, major domain (1);	0.216496	0.48286	D	0.000185	D	0.88130	0.6354	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90376	0.4384	10	0.87932	D	0	-3.274	19.3517	0.94389	0.0:0.0:1.0:0.0	.	135	Q9NUV7	SPTC3_HUMAN	W	135;135;135;108	ENSP00000389749:G135W;ENSP00000381968:G135W;ENSP00000367436:G135W;ENSP00000409125:G108W	ENSP00000367436:G135W	G	+	1	0	SPTLC3	13001003	1.000000	0.71417	0.298000	0.25002	0.654000	0.38779	8.010000	0.88615	2.587000	0.87381	0.655000	0.94253	GGG		0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		71	394	1	0	5.71386e-39	0.01441	7.13234e-39	71	394				
PXMP4	11264	broad.mit.edu	37	20	32302524	32302525	+	Missense_Mutation	DNP	CC	CC	AA	rs142263400		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:32302524_32302525CC>AA	ENST00000409299.3	-	2	223_224	c.131_132GG>TT	c.(130-132)cGG>cTT	p.R44L	PXMP4_ENST00000344022.3_Missense_Mutation_p.R44L|PXMP4_ENST00000217398.3_Missense_Mutation_p.R44L	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	44						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.R44L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CGTGAGGGGCCCGGATTTTGGC	0.505																																							uc002wzv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CGG>CTT		peroxisomal membrane protein 4 isoform a																																				SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32302524_32302525CC>AA	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.131_132delinsAA	20.37:g.32302524_32302525delinsAA	ENSP00000386385:p.Arg44Leu					PXMP4_uc002wzw.2_Missense_Mutation_p.R44L|PXMP4_uc010zuh.1_Missense_Mutation_p.R44L	p.R44L	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			2	254_255	-			44					A2A2I7|Q9H0T4	Missense_Mutation	DNP	ENST00000409299.3	37	c.131_132GG>TT	CCDS13225.1																																																																																				0.505	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		77	150	0	0	0	0.004672	0	77	150				
TTI1	9675	broad.mit.edu	37	20	36641892	36641892	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:36641892G>A	ENST00000373448.2	-	3	565	c.327C>T	c.(325-327)tcC>tcT	p.S109S	TTI1_ENST00000449821.1_Silent_p.S109S|TTI1_ENST00000373447.3_Silent_p.S109S|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	109					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.S109S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGGTTTTTGGGAGCTGGGTG	0.453																																							uc002xhl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)TCC>TCT		hypothetical protein LOC9675							94.0	98.0	97.0					20																	36641892		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36641892G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.327C>T	20.37:g.36641892G>A						KIAA0406_uc002xhm.2_Silent_p.S109S	p.S109S	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	536	-		Myeloproliferative disorder(115;0.00874)	109					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.327C>T	CCDS13300.1																																																																																				0.453	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		53	108	0	0	0	0.01441	0	53	108				
SRSF6	6431	broad.mit.edu	37	20	42088436	42088436	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:42088436G>C	ENST00000244020.3	+	3	388	c.282G>C	c.(280-282)cgG>cgC	p.R94R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	94					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R94R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACAGCAGTCGGAGAACATCTG	0.403																																							uc010zwg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)CGG>CGC		arginine/serine-rich splicing factor 6							153.0	139.0	144.0					20																	42088436		2203	4300	6503	SO:0001819	synonymous_variant	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088436G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.282G>C	20.37:g.42088436G>C						SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Silent_p.R94R	p.R94R	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	452	+		Myeloproliferative disorder(115;0.00452)	94					B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Silent	SNP	ENST00000244020.3	37	c.282G>C	CCDS13318.1																																																																																				0.403	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		7	237	0	0	0	0.00308	0	7	237				
SPATA2	9825	broad.mit.edu	37	20	48523254	48523254	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:48523254C>T	ENST00000422556.1	-	3	814	c.465G>A	c.(463-465)gaG>gaA	p.E155E	SPATA2_ENST00000543716.1_Silent_p.E18E|SPATA2_ENST00000289431.5_Silent_p.E155E	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E155E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCTGGAGGGTCTCCACGAGCT	0.527																																							uc010gie.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(463-465)GAG>GAA		spermatogenesis associated 2							57.0	56.0	57.0					20																	48523254		2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523254C>T	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.465G>A	20.37:g.48523254C>T						SPATA2_uc002xuw.2_Silent_p.E155E|SPATA2_uc010zyn.1_Silent_p.E18E	p.E155E	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	815	-	Hepatocellular(150;0.133)		155					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.465G>A	CCDS13422.1																																																																																				0.527	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		21	47	0	0	0	0.004656	0	21	47				
KCNQ2	3785	broad.mit.edu	37	20	62073780	62073780	+	Silent	SNP	C	C	T	rs148654588	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:62073780C>T	ENST00000359125.2	-	5	969	c.795G>A	c.(793-795)gcG>gcA	p.A265A	KCNQ2_ENST00000354587.3_Silent_p.A265A|KCNQ2_ENST00000360480.3_Silent_p.A265A|KCNQ2_ENST00000344462.4_Silent_p.A265A|KCNQ2_ENST00000370224.1_Silent_p.A265A|KCNQ2_ENST00000344425.5_Silent_p.A265A|KCNQ2_ENST00000357249.2_Silent_p.A265A|KCNQ2_ENST00000359689.1_Silent_p.A265A	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	265					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A265A(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGAGTGCATCCGCGTAGGTGT	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16966	0.0		0.0	False		,,,				2504	0.0						uc002yey.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(793-795)GCG>GCA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)	C	,,,,	2,4404	4.2+/-10.8	0,2,2201	318.0	267.0	284.0		795,795,795,795,795	-6.8	0.0	20	dbSNP_134	284	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ2	NM_004518.4,NM_172106.1,NM_172107.2,NM_172108.3,NM_172109.1	,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,	265/845,265/855,265/873,265/842,265/394	62073780	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62073780C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.795G>A	20.37:g.62073780C>T						KCNQ2_uc002yez.1_Silent_p.A265A|KCNQ2_uc002yfa.1_Silent_p.A265A|KCNQ2_uc002yfb.1_Silent_p.A265A|KCNQ2_uc011aax.1_Silent_p.A265A|KCNQ2_uc002yfc.1_Silent_p.A265A	p.A265A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		5	972	-	all_cancers(38;1.24e-11)		265					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.795G>A	CCDS13520.1																																																																																				0.577	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		8	440	0	0	0	0.004482	0	8	440				
TPTE	7179	broad.mit.edu	37	21	10951323	10951323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:10951323G>A	ENST00000361285.4	-	10	718	c.389C>T	c.(388-390)tCt>tTt	p.S130F	TPTE_ENST00000298232.7_Missense_Mutation_p.S112F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S92F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	130					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S130F(1)|p.S112F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAGCTAGAGAAATAGAACG	0.343																																							uc002yip.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(388-390)TCT>TTT		transmembrane phosphatase with tensin homology							88.0	96.0	93.0					21																	10951323		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951323G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.389C>T	21.37:g.10951323G>A	ENSP00000355208:p.Ser130Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S112F|TPTE_uc002yir.1_Missense_Mutation_p.S92F|TPTE_uc010gkv.1_5'UTR	p.S130F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	757	-			130			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.389C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.04	1.817307	0.32145	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97553	-4.43;-4.43;-4.43	1.8	1.8	0.24995	.	0.191186	0.46758	U	0.000267	D	0.96830	0.8965	M	0.76727	2.345	0.53688	D	0.99997	P;P;D	0.54207	0.922;0.956;0.965	P;P;P	0.55345	0.664;0.664;0.774	D	0.95698	0.8746	10	0.87932	D	0	-11.1705	7.1311	0.25502	0.0:0.0:1.0:0.0	.	92;112;130	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	112;130;92;112	ENSP00000298232:S112F;ENSP00000355208:S130F;ENSP00000344441:S92F	ENSP00000298232:S112F	S	-	2	0	TPTE	9973194	1.000000	0.71417	0.902000	0.35471	0.197000	0.23852	4.152000	0.58111	1.318000	0.45170	0.194000	0.17425	TCT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			23	91	0	0	0	0.003954	0	23	91				
TMPRSS15	5651	broad.mit.edu	37	21	19737487	19737487	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:19737487T>A	ENST00000284885.3	-	7	776	c.743A>T	c.(742-744)gAa>gTa	p.E248V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	248	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.E248V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACACTTGTTTCAGAAGGTTT	0.373																																							uc002ykw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(742-744)GAA>GTA		enterokinase precursor							157.0	150.0	152.0					21																	19737487		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19737487T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.743A>T	21.37:g.19737487T>A	ENSP00000284885:p.Glu248Val						p.E248V	NM_002772	NP_002763	P98073	ENTK_HUMAN			7	774	-			248			Extracellular (Potential).|CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.743A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	8.020	0.759392	0.15846	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.34275	1.37;2.1	5.09	-4.57	0.03421	CUB (5);	1.260210	0.05364	N	0.534338	T	0.26991	0.0661	L	0.45137	1.4	0.09310	N	1	B	0.26602	0.154	B	0.31101	0.124	T	0.29119	-1.0022	9	.	.	.	.	4.5596	0.12154	0.1313:0.0886:0.536:0.2441	.	248	P98073	ENTK_HUMAN	V	248;218	ENSP00000284885:E248V;ENSP00000398253:E218V	.	E	-	2	0	TMPRSS15	18659358	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	0.249000	0.18216	-0.854000	0.04131	0.523000	0.50628	GAA		0.373	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		30	78	0	0	0	0.003271	0	30	78				
KRTAP15-1	254950	broad.mit.edu	37	21	31812989	31812989	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:31812989T>C	ENST00000334067.3	+	1	393	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	115						intermediate filament (GO:0005882)		p.L115P(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTCCAATCTCTGGACTGTGGG	0.493																																							uc002yod.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)CTG>CCG		keratin associated protein 15-1							119.0	120.0	120.0					21																	31812989		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812989T>C	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.344T>C	21.37:g.31812989T>C	ENSP00000334866:p.Leu115Pro						p.L115P	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	344	+			115					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.344T>C	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327762	0.41197	.	.	ENSG00000186970	ENST00000334067	T	0.17854	2.25	4.72	-3.89	0.04193	.	1.337720	0.05437	N	0.547048	T	0.16981	0.0408	M	0.70595	2.14	0.09310	N	1	B	0.18863	0.031	B	0.23419	0.046	T	0.45877	-0.9231	10	0.87932	D	0	2.8682	0.2372	0.00187	0.2864:0.173:0.2767:0.2639	.	115	Q3LI76	KR151_HUMAN	P	115	ENSP00000334866:L115P	ENSP00000334866:L115P	L	+	2	0	KRTAP15-1	30734860	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.071000	0.11505	-0.672000	0.05266	-0.385000	0.06624	CTG		0.493	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			28	88	0	0	0	0.005443	0	28	88				
SMTN	6525	broad.mit.edu	37	22	31486831	31486831	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:31486831G>T	ENST00000347557.2	+	9	1121	c.903G>T	c.(901-903)tcG>tcT	p.S301S	SMTN_ENST00000333137.7_Silent_p.S301S|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000358743.1_Silent_p.S301S	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	301					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.S301S(2)|p.S293S(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTCCCTGTCGGTGCTCAGCC	0.627																																							uc003ajl.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(901-903)TCG>TCT		smoothelin isoform c							109.0	112.0	111.0					22																	31486831		2203	4300	6503	SO:0001819	synonymous_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31486831G>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.903G>T	22.37:g.31486831G>T						SMTN_uc003ajk.1_Silent_p.S301S|SMTN_uc003ajm.1_Silent_p.S301S|SMTN_uc011ale.1_Silent_p.S355S|SMTN_uc011alf.1_Silent_p.S357S|SMTN_uc003ajn.1_Silent_p.S293S|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	p.S301S	NM_006932	NP_008863	P53814	SMTN_HUMAN			9	1121	+			301					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	37	c.903G>T	CCDS13886.1																																																																																				0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		25	148	1	0	1.88708e-17	0.008361	2.24563e-17	25	148				
LIMK2	3985	broad.mit.edu	37	22	31658126	31658126	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:31658126C>G	ENST00000331728.4	+	6	672	c.558C>G	c.(556-558)aaC>aaG	p.N186K	LIMK2_ENST00000406516.1_Missense_Mutation_p.N108K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.N165K|LIMK2_ENST00000340552.4_Missense_Mutation_p.N165K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	186	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.N186K(1)|p.N165K(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCAGGGTCAACCGGATGCACA	0.567																																							uc003akh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(556-558)AAC>AAG		LIM domain kinase 2 isoform 2a							135.0	128.0	131.0					22																	31658126		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658126C>G	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.558C>G	22.37:g.31658126C>G	ENSP00000332687:p.Asn186Lys					LIMK2_uc003akg.2_Missense_Mutation_p.N103K|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.N165K|LIMK2_uc003akk.2_Missense_Mutation_p.N165K|LIMK2_uc011aln.1_Missense_Mutation_p.N103K	p.N186K	NM_005569	NP_005560	P53671	LIMK2_HUMAN			6	703	+			186			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.558C>G	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424809	0.43020	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.138319	0.64402	D	0.000003	T	0.17023	0.0409	N	0.08118	0	0.80722	D	1	B;B;B;B	0.31009	0.002;0.009;0.001;0.303	B;B;B;B	0.34093	0.011;0.05;0.012;0.175	T	0.11421	-1.0588	10	0.39692	T	0.17	-34.7266	16.5789	0.84708	0.0:1.0:0.0:0.0	.	218;165;186;108	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	K	108;186;218;165;165	ENSP00000384602:N108K;ENSP00000332687:N186K;ENSP00000330470:N165K;ENSP00000339916:N165K	ENSP00000332687:N186K	N	+	3	2	LIMK2	29988126	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.658000	0.46733	2.588000	0.87417	0.655000	0.94253	AAC		0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		27	162	0	0	0	0.007291	0	27	162				
LARGE	9215	broad.mit.edu	37	22	33700318	33700318	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:33700318C>T	ENST00000354992.2	-	13	2198	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	LARGE_ENST00000437602.2_Missense_Mutation_p.V543M|LARGE_ENST00000337431.2_Missense_Mutation_p.V491M|LARGE_ENST00000402320.1_Missense_Mutation_p.V491M|LARGE_ENST00000397394.2_Missense_Mutation_p.V543M|LARGE_ENST00000452586.2_Missense_Mutation_p.V342M	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	543					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)	p.V543M(2)|p.V543L(1)		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)				AGCAGGTTCACGGGGTAGAAC	0.572																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1627-1629)GTG>ATG		like-glycosyltransferase							177.0	138.0	151.0					22																	33700318		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700318C>T	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.1627G>A	22.37:g.33700318C>T	ENSP00000347088:p.Val543Met					LARGE_uc011amd.1_Missense_Mutation_p.V342M|LARGE_uc003ane.3_Missense_Mutation_p.V543M|LARGE_uc010gwp.2_Missense_Mutation_p.V491M|LARGE_uc011ame.1_Missense_Mutation_p.V475M|LARGE_uc011amf.1_Missense_Mutation_p.V543M	p.V543M	NM_004737	NP_004728	O95461	LARGE_HUMAN			13	2206	-		Lung NSC(1;0.219)	543			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1627G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973646	0.74246	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.58210	1.84;1.84;1.84;1.84;1.84;0.35	5.33	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.77004	0.989;0.939;0.973;0.989	T	0.81865	-0.0736	10	0.72032	D	0.01	-16.1227	13.9395	0.64046	0.0:0.9271:0.0:0.0729	.	543;342;491;543	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	M	220;220;543;491;543;491;342;543	ENSP00000347088:V543M;ENSP00000336636:V491M;ENSP00000380549:V543M;ENSP00000385223:V491M;ENSP00000407917:V342M;ENSP00000388544:V543M	ENSP00000336636:V491M	V	-	1	0	LARGE	32030318	1.000000	0.71417	0.960000	0.40013	0.884000	0.51177	5.565000	0.67365	1.260000	0.44134	-0.251000	0.11542	GTG		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		34	116	0	0	0	0.005524	0	34	116				
ISX	91464	broad.mit.edu	37	22	35463277	35463277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:35463277G>T	ENST00000308700.6	+	1	1149	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.G66V	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	66					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G66V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TCAGGCTCTGGGCTAGAAAAG	0.567																																							uc003anj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(196-198)GGG>GTG		intestine-specific homeobox							30.0	33.0	32.0					22																	35463277		2196	4297	6493	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463277G>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.197G>T	22.37:g.35463277G>T	ENSP00000311492:p.Gly66Val					ISX_uc011amg.1_Missense_Mutation_p.G54V	p.G66V	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	1148	+			66					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.197G>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262375	0.23051	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.91351	-2.83;-2.83	5.13	1.84	0.25277	Homeodomain-related (1);Homeodomain-like (1);	0.708209	0.12752	N	0.442095	T	0.81163	0.4765	L	0.27053	0.805	0.09310	N	0.999996	P	0.40476	0.718	B	0.36030	0.216	T	0.68849	-0.5300	10	0.27785	T	0.31	.	7.4493	0.27229	0.2846:0.0:0.7153:0.0	.	66	Q2M1V0	ISX_HUMAN	V	66	ENSP00000311492:G66V;ENSP00000386037:G66V	ENSP00000311492:G66V	G	+	2	0	ISX	33793277	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.018000	0.12568	0.557000	0.29117	0.655000	0.94253	GGG		0.567	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		4	8	1	0	0.00198382	0.001984	0.00204689	4	8				
EFCAB6	64800	broad.mit.edu	37	22	43933318	43933318	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:43933318C>G	ENST00000262726.7	-	29	4240	c.3987G>C	c.(3985-3987)ctG>ctC	p.L1329L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Silent_p.L1177L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1329	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L1329L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGCATTCTTTCAGGAGCTGGC	0.567																																							uc003bdy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3985-3987)CTG>CTC		CAP-binding protein complex interacting protein							107.0	108.0	107.0					22																	43933318		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43933318C>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3987G>C	22.37:g.43933318C>G						EFCAB6_uc003bdz.1_Silent_p.L1177L|EFCAB6_uc010gzi.1_Silent_p.L1177L	p.L1329L	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			29	4202	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1329			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3987G>C	CCDS14049.1																																																																																				0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		10	187	0	0	0	0.006214	0	10	187				
KIAA1644	85352	broad.mit.edu	37	22	44692714	44692714	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:44692714C>T	ENST00000381176.4	-	3	251	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	40						integral component of membrane (GO:0016021)		p.R40H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAAGTGGTAGCGGCCTTTGTG	0.547																																							uc003bet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)CGC>CAC		hypothetical protein LOC85352 precursor							136.0	154.0	148.0					22																	44692714		2093	4229	6322	SO:0001583	missense	85352					integral to membrane		g.chr22:44692714C>T	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.119G>A	22.37:g.44692714C>T	ENSP00000370568:p.Arg40His						p.R40H	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			3	252	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	40			Extracellular (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.119G>A	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501237	0.44455	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.27	4.04	0.47022	.	0.111895	0.64402	D	0.000007	T	0.38188	0.1031	N	0.19112	0.55	0.42219	D	0.991844	B	0.19706	0.038	B	0.17098	0.017	T	0.51164	-0.8740	8	0.51188	T	0.08	-37.5203	13.8607	0.63559	0.0:0.912:0.0:0.088	.	40	Q3SXP7	K1644_HUMAN	H	40	.	ENSP00000370568:R40H	R	-	2	0	KIAA1644	43024047	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.926000	0.48892	2.443000	0.82685	0.561000	0.74099	CGC		0.547	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		11	332	0	0	0	0.013537	0	11	332				
ARHGAP8	23779	broad.mit.edu	37	22	45244880	45244880	+	Nonsense_Mutation	SNP	C	C	T	rs549516595		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:45244880C>T	ENST00000389774.2	+	11	1051	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ARHGAP8_ENST00000356099.6_Nonsense_Mutation_p.R273*|PRR5-ARHGAP8_ENST00000361473.5_Nonsense_Mutation_p.R404*|ARHGAP8_ENST00000517296.3_Nonsense_Mutation_p.R483*|PRR5-ARHGAP8_ENST00000352766.7_Nonsense_Mutation_p.R483*|ARHGAP8_ENST00000389773.5_Nonsense_Mutation_p.R395*|ARHGAP8_ENST00000336963.4_Nonsense_Mutation_p.R273*	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	304	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R304*(1)|p.R309*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GACCTTCCTGCGAGAGCTGCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17302	0.0		0.0	False		,,,				2504	0.001						uc003bfd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(1447-1449)CGA>TGA		Rho GTPase activating protein 8 isoform 2							163.0	148.0	153.0					22																	45244880		2203	4300	6503	SO:0001587	stop_gained	553158							g.chr22:45244880C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.910C>T	22.37:g.45244880C>T	ENSP00000374424:p.Arg304*					PRR5-ARHGAP8_uc003bfc.2_Nonsense_Mutation_p.R404*|PRR5-ARHGAP8_uc011aqi.1_Nonsense_Mutation_p.R395*|PRR5-ARHGAP8_uc011aqj.1_Nonsense_Mutation_p.R309*|ARHGAP8_uc003bfi.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc010gzv.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc003bfj.2_Nonsense_Mutation_p.R304*|ARHGAP8_uc003bfk.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc003bfl.2_RNA	p.R483*	NM_181335	NP_851852					15	1719	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Nonsense_Mutation	SNP	ENST00000389774.2	37	c.1447C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102771	0.76983	.	.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	.	.	.	3.83	2.76	0.32466	.	0.000000	0.29646	U	0.011564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9197	0.13864	0.2086:0.6753:0.0:0.1162	.	.	.	.	X	404;483;483;395;304;273;273	.	ENSP00000337287:R273X	R	+	1	2	PRR5-ARHGAP8;ARHGAP8	43623544	0.718000	0.27976	0.949000	0.38748	0.633000	0.38033	1.248000	0.32827	1.965000	0.57142	0.460000	0.39030	CGA		0.617	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		5	194	0	0	0	0.000602	0	5	194				
CCDC174	51244	broad.mit.edu	37	3	14712462	14712462	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:14712462G>C	ENST00000383794.3	+	11	1238	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	CCDC174_ENST00000303688.7_Missense_Mutation_p.E313Q|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	389						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E389Q(1)									GAGAGATCCTGAGTTTGCCCC	0.488																																							uc003byw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)GAG>CAG		hypothetical protein LOC51244							51.0	47.0	48.0					3																	14712462		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14712462G>C	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1165G>C	3.37:g.14712462G>C	ENSP00000373304:p.Glu389Gln					C3orf19_uc010hej.2_Missense_Mutation_p.E218Q	p.E389Q	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			11	1256	+			389					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.1165G>C	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553046	0.86127	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.66460	-0.11;-0.21	5.38	4.5	0.54988	.	0.049773	0.85682	D	0.000000	T	0.78880	0.4353	M	0.71581	2.175	0.35519	D	0.801293	D	0.76494	0.999	D	0.66847	0.947	D	0.85457	0.1164	10	0.72032	D	0.01	-10.7814	12.8539	0.57873	0.08:0.0:0.92:0.0	.	389	Q6PII3	CC019_HUMAN	Q	389;313;216	ENSP00000373304:E389Q;ENSP00000302344:E313Q	ENSP00000285042:E216Q	E	+	1	0	C3orf19	14687466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.243000	0.89821	1.278000	0.44430	0.591000	0.81541	GAG		0.488	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		10	49	0	0	0	0.008291	0	10	49				
COLQ	8292	broad.mit.edu	37	3	15515524	15515524	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:15515524C>T	ENST00000383788.5	-	10	744	c.619G>A	c.(619-621)Gga>Aga	p.G207R	COLQ_ENST00000383787.2_Missense_Mutation_p.G198R|COLQ_ENST00000383781.4_Missense_Mutation_p.G197R|COLQ_ENST00000603808.1_Missense_Mutation_p.G207R|COLQ_ENST00000435459.2_Intron|COLQ_ENST00000383786.5_Missense_Mutation_p.G173R|COLQ_ENST00000383785.2_Missense_Mutation_p.G207R	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	207	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.G207R(1)|p.G197R(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCCAACATTCCAGGAAATCCT	0.413																																							uc003bzx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(619-621)GGA>AGA		acetylcholinesterase collagen-like tail subunit							103.0	93.0	97.0					3																	15515524		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15515524C>T	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.619G>A	3.37:g.15515524C>T	ENSP00000373298:p.Gly207Arg					COLQ_uc003bzv.2_Missense_Mutation_p.G197R|COLQ_uc003bzz.2_Missense_Mutation_p.G198R|COLQ_uc010heo.2_Missense_Mutation_p.G173R|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G66R|COLQ_uc003cad.1_RNA	p.G207R	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			10	745	-			207			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.619G>A	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643263	0.67244	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.95982	3.75	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.97110	1.0;0.938;0.999;1.0	D	0.97291	0.9924	10	0.87932	D	0	-9.7263	16.9129	0.86144	0.0:1.0:0.0:0.0	.	173;198;207;197	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	R	198;197;207;207;197;207;173;150	ENSP00000373297:G198R;ENSP00000373291:G197R;ENSP00000373295:G207R;ENSP00000373298:G207R;ENSP00000373296:G173R	ENSP00000373291:G197R	G	-	1	0	COLQ	15490528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.772000	0.68889	2.744000	0.94065	0.561000	0.74099	GGA		0.413	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		3	46	0	0	0	0.004672	0	3	46				
GADL1	339896	broad.mit.edu	37	3	30842577	30842577	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:30842577G>T	ENST00000282538.5	-	12	1204	c.1054C>A	c.(1054-1056)Ctt>Att	p.L352I	GADL1_ENST00000454381.3_Missense_Mutation_p.L352I	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	352					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.L168I(1)|p.L352I(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTTTTAAGAAGATCCTTCGAA	0.353																																							uc003cep.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1054-1056)CTT>ATT		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						69.0	63.0	65.0					3																	30842577		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842577G>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1054C>A	3.37:g.30842577G>T	ENSP00000282538:p.Leu352Ile					GADL1_uc003ceq.1_Missense_Mutation_p.L352I	p.L352I	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			12	1101	-			352						Missense_Mutation	SNP	ENST00000282538.5	37	c.1054C>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664855	0.29604	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.58940	0.3;0.3	5.38	5.38	0.77491	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	T	0.72179	0.3428	M	0.76727	2.345	0.44462	D	0.997397	P	0.50617	0.937	D	0.63957	0.92	T	0.69621	-0.5096	10	0.29301	T	0.29	.	13.4204	0.60994	0.0758:0.0:0.9241:0.0	.	352	Q6ZQY3	GADL1_HUMAN	I	352	ENSP00000282538:L352I;ENSP00000427059:L352I	ENSP00000282538:L352I	L	-	1	0	GADL1	30817581	1.000000	0.71417	0.933000	0.37362	0.076000	0.17211	2.622000	0.46427	2.524000	0.85096	0.585000	0.79938	CTT		0.353	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		31	29	1	0	8.16721e-17	0.010818	9.62275e-17	31	29				
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(466)|p.T41I(66)|p.A5_A80del(63)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.T41S(5)|p.T41N(4)|p.T41P(4)|p.W25_I140del(4)|p.V22_L139>V(2)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.T41T(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q72del(1)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A20_Q72del(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A5_G80>(1)|p.A20_N141del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.D6_A43del(1)|p.A5_T42del(1)|p.V22_G80>NNNNN(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_D144>D(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A20_R151del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.A5_T40del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.V22_A80del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.M1_T42del(1)|p.D6_I140del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A20_L148del(1)|p.A39_T42del(1)|p.Q28_I140del(1)|p.S23_I140del(1)|p.E9_S47del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(121-123)ACC>GCC		beta-catenin	Lithium(DB01356)						89.0	77.0	81.0					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.T41A	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	277	+			41		T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).|T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		11	16	0	0	0	0.00245	0	11	16				
SHQ1	55164	broad.mit.edu	37	3	72866403	72866403	+	Missense_Mutation	SNP	C	C	T	rs547916015		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:72866403C>T	ENST00000325599.8	-	7	999	c.860G>A	c.(859-861)cGt>cAt	p.R287H	SHQ1_ENST00000463369.1_Missense_Mutation_p.R259H	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	287					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R287H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTCAGTGACACGGGTTTCATA	0.408																																							uc003dpf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(859-861)CGT>CAT		SHQ1 homolog							190.0	163.0	172.0					3																	72866403		2203	4299	6502	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72866403C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.860G>A	3.37:g.72866403C>T	ENSP00000315182:p.Arg287His					SHQ1_uc010hod.2_Missense_Mutation_p.R198H	p.R287H	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	7	967	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	287					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.860G>A	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406607	0.83230	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.43294	1.02;0.95	5.79	4.92	0.64577	SHQ1 protein (1);	0.186825	0.48286	D	0.000181	T	0.65544	0.2701	M	0.88241	2.94	0.58432	D	0.999998	D	0.63880	0.993	P	0.62649	0.905	T	0.70718	-0.4795	10	0.52906	T	0.07	-11.3637	11.3872	0.49793	0.0:0.8534:0.0:0.1466	.	287	Q6PI26	SHQ1_HUMAN	H	287;259	ENSP00000315182:R287H;ENSP00000417452:R259H	ENSP00000315182:R287H	R	-	2	0	SHQ1	72949093	0.984000	0.35163	0.845000	0.33349	0.915000	0.54546	2.167000	0.42415	1.436000	0.47453	0.591000	0.81541	CGT		0.408	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		19	63	0	0	0	0.010504	0	19	63				
PODXL2	50512	broad.mit.edu	37	3	127381120	127381120	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:127381120A>G	ENST00000342480.6	+	4	1211	c.1172A>G	c.(1171-1173)tAc>tGc	p.Y391C	AC023593.1_ENST00000408486.1_RNA	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	391					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.Y391C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGAAAAACTACATCATTCTG	0.552																																							uc003ejq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1171-1173)TAC>TGC		podocalyxin-like 2 precursor							94.0	78.0	83.0					3																	127381120		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127381120A>G	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1172A>G	3.37:g.127381120A>G	ENSP00000345359:p.Tyr391Cys						p.Y391C	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			4	1196	+			391			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.1172A>G	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704782	0.68615	.	.	ENSG00000114631	ENST00000342480	T	0.27402	1.67	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.42877	0.1222	L	0.34521	1.04	0.42729	D	0.993706	D	0.76494	0.999	D	0.63488	0.915	T	0.41928	-0.9481	10	0.72032	D	0.01	-9.0278	15.1083	0.72336	1.0:0.0:0.0:0.0	.	391	Q9NZ53	PDXL2_HUMAN	C	391	ENSP00000345359:Y391C	ENSP00000345359:Y391C	Y	+	2	0	PODXL2	128863810	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.528000	0.67129	2.027000	0.59764	0.482000	0.46254	TAC		0.552	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		22	38	0	0	0	0.005443	0	22	38				
IFT122	55764	broad.mit.edu	37	3	129183488	129183488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:129183488G>T	ENST00000348417.2	+	7	504	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.D194Y|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D96Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D143Y|IFT122_ENST00000296266.3_Missense_Mutation_p.D194Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D91Y	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	143					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D194Y(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGGACAAATGATGGTCAGTA	0.502																																							uc003emm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(427-429)GAT>TAT		WD repeat domain 10 isoform 2							133.0	127.0	129.0					3																	129183488		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129183488G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.427G>T	3.37:g.129183488G>T	ENSP00000324005:p.Asp143Tyr					IFT122_uc003eml.2_Missense_Mutation_p.D194Y|IFT122_uc003emn.2_Missense_Mutation_p.D143Y|IFT122_uc003emo.2_Missense_Mutation_p.D91Y|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Missense_Mutation_p.D194Y|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_RNA	p.D143Y	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			7	633	+			143			WD 4.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.427G>T	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311945|4.311945	0.81358|0.81358	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000504021;ENST00000349441;ENST00000348417|ENST00000508826	T;T;T;T;T;T|.	0.70986|.	-0.53;1.23;1.23;1.07;1.07;-0.53|.	5.57|5.57	5.57|5.57	0.84162|0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74253|.	0.3692|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.87578|.	0.997;0.996;0.998;0.921;0.964|.	T|.	0.71487|.	-0.4578|.	10|.	0.59425|.	D|.	0.04|.	-22.0606|-22.0606	19.5417|19.5417	0.95277|0.95277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	194;91;143;143;194|.	E7EQF4;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;IF122_HUMAN;.|.	Y|L	143;194;194;143;96;91;143|94	ENSP00000323973:D143Y;ENSP00000296266:D194Y;ENSP00000425536:D194Y;ENSP00000422179:D96Y;ENSP00000324165:D91Y;ENSP00000324005:D143Y|.	ENSP00000296266:D194Y|.	D|X	+|+	1|2	0|2	IFT122|IFT122	130666178|130666178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.686000|0.686000	0.39977|0.39977	9.459000|9.459000	0.97638|0.97638	2.608000|2.608000	0.88229|0.88229	0.563000|0.563000	0.77884|0.77884	GAT|TGA		0.502	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		12	214	1	0	1.61879e-10	0.013537	1.80596e-10	12	214				
PXYLP1	92370	broad.mit.edu	37	3	141006210	141006210	+	Silent	SNP	C	C	T	rs200023218		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:141006210C>T	ENST00000286353.4	+	5	557	c.420C>T	c.(418-420)tcC>tcT	p.S140S	ACPL2_ENST00000393010.2_Silent_p.S140S|ACPL2_ENST00000504264.1_Silent_p.S123S|ACPL2_ENST00000508812.1_Silent_p.S131S|ACPL2_ENST00000502783.1_Silent_p.S102S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.S124S	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		140						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.S140S(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAAAAGGATCCGGAGCCTCTT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19438	0.001		0.0	False		,,,				2504	0.0						uc003etu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(418-420)TCC>TCT		acid phosphatase-like 2 precursor							151.0	152.0	152.0					3																	141006210		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:141006210C>T																												ENST00000286353.4:c.420C>T	3.37:g.141006210C>T						ACPL2_uc003etv.2_Silent_p.S140S|ACPL2_uc011bna.1_Silent_p.S102S|ACPL2_uc011bnb.1_Silent_p.S123S	p.S140S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			7	719	+			140					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.420C>T	CCDS3116.1																																																																																				0.483	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			85	225	0	0	0	0.01441	0	85	225				
WHSC1	7468	broad.mit.edu	37	4	1976612	1976612	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:1976612C>T	ENST00000382895.3	+	21	3826	c.3395C>T	c.(3394-3396)cCc>cTc	p.P1132L	SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P480L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P1132L|WHSC1_ENST00000382892.2_Missense_Mutation_p.P1132L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P1132L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1132	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.P1132L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACGCTGGCCCCAAAGGAAAC	0.453			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3394-3396)CCC>CTC		Wolf-Hirschhorn syndrome candidate 1 protein							116.0	117.0	117.0					4																	1976612		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976612C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3395C>T	4.37:g.1976612C>T	ENSP00000372351:p.Pro1132Leu					WHSC1_uc003geb.3_Missense_Mutation_p.P1132L|WHSC1_uc003gec.3_Missense_Mutation_p.P1132L|WHSC1_uc003ged.3_Missense_Mutation_p.P1132L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.P351L|WHSC1_uc011bvh.1_Missense_Mutation_p.P193L|WHSC1_uc010icf.2_Missense_Mutation_p.P480L	p.P1132L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	19	3571	+		all_epithelial(65;1.34e-05)	1132			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3395C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100184	0.94245	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.96	4.96	0.65561	SET domain (3);	0.000000	0.52532	D	0.000075	D	0.92948	0.7756	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93591	0.6921	10	0.87932	D	0	.	18.3824	0.90455	0.0:1.0:0.0:0.0	.	480;1132	A2A2T2;O96028	.;NSD2_HUMAN	L	1132;1132;1132;1132;480	ENSP00000423972:P1132L;ENSP00000372347:P1132L;ENSP00000372348:P1132L;ENSP00000372351:P1132L;ENSP00000372344:P480L	ENSP00000372344:P480L	P	+	2	0	WHSC1	1946410	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.850000	0.69473	2.587000	0.87381	0.467000	0.42956	CCC		0.453	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		4	175	0	0	0	0.000602	0	4	175				
LPHN3	23284	broad.mit.edu	37	4	62863911	62863911	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:62863911G>T	ENST00000514591.1	+	20	3448	c.3119G>T	c.(3118-3120)gGg>gTg	p.G1040V	LPHN3_ENST00000514157.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000512091.2_Missense_Mutation_p.G1040V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1040V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1027					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.G1040V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTTCCTTGGGATTGCTTTA	0.303																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3118-3120)GGG>GTG		latrophilin 3 precursor							125.0	119.0	121.0					4																	62863911		1839	4077	5916	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62863911G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3119G>T	4.37:g.62863911G>T	ENSP00000422533:p.Gly1040Val					LPHN3_uc003hcq.3_Missense_Mutation_p.G1040V|LPHN3_uc003hct.2_Missense_Mutation_p.G433V	p.G1040V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			18	3292	+			1027			Helical; Name=5; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3119G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.860523|2.860523	0.51482|0.51482	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.38240|.	1.15;1.15;1.15;1.36;1.36;1.15;1.36;1.15;1.36;1.36;1.15;1.15;1.15;1.36;1.36|.	5.68|5.68	5.68|5.68	0.88126|0.88126	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.28764|0.28764	0.0713|0.0713	N|N	0.00788|0.00788	-1.185|-1.185	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.37842|0.37842	-0.9688|-0.9688	10|5	0.30078|.	T|.	0.28|.	.|.	19.7969|19.7969	0.96490|0.96490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1027;1040|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	V|C	1040;1040;1108;1108;1040;1040;1027;1040;1108;1108;1108;1040;1040;1040;1108;1108;1040|497	ENSP00000423388:G1040V;ENSP00000422533:G1040V;ENSP00000423787:G1108V;ENSP00000425033:G1108V;ENSP00000424120:G1040V;ENSP00000439831:G1040V;ENSP00000421476:G1108V;ENSP00000424030:G1108V;ENSP00000421372:G1108V;ENSP00000425201:G1040V;ENSP00000423434:G1040V;ENSP00000421627:G1040V;ENSP00000420931:G1108V;ENSP00000425884:G1108V;ENSP00000424258:G1040V|.	ENSP00000280009:G1040V|.	G|W	+|+	2|3	0|0	LPHN3|LPHN3	62546506|62546506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.452000|9.452000	0.97615|0.97615	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.303	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	29	1	0	2.80697e-09	0.010729	3.09287e-09	9	29				
NPFFR2	10886	broad.mit.edu	37	4	73012878	73012878	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:73012878C>G	ENST00000308744.6	+	4	1016	c.918C>G	c.(916-918)taC>taG	p.Y306*	NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y207*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y204*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	306					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.Y306*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTCCAGTCTACTGGTGCCGGG	0.463																																							uc003hgg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(916-918)TAC>TAG		neuropeptide FF receptor 2 isoform 1							107.0	99.0	102.0					4																	73012878		2203	4300	6503	SO:0001587	stop_gained	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012878C>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.918C>G	4.37:g.73012878C>G	ENSP00000307822:p.Tyr306*					NPFFR2_uc010iig.1_Nonsense_Mutation_p.Y88*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Y207*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Y204*|NPFFR2_uc003hgj.2_RNA	p.Y306*	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1016	+			306			Extracellular (Potential).		Q96RV1|Q9NR49	Nonsense_Mutation	SNP	ENST00000308744.6	37	c.918C>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425149	0.62733	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	.	.	.	5.91	2.24	0.28232	.	0.253520	0.28382	N	0.015551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.832	0.35089	0.0:0.6242:0.0:0.3758	.	.	.	.	X	306;207;204	.	ENSP00000307822:Y306X	Y	+	3	2	NPFFR2	73231742	0.979000	0.34478	1.000000	0.80357	0.082000	0.17680	0.272000	0.18644	0.822000	0.34565	0.655000	0.94253	TAC		0.463	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		9	80	0	0	0	0.008291	0	9	80				
SCARB2	950	broad.mit.edu	37	4	77116918	77116918	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:77116918C>G	ENST00000264896.2	-	2	566	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	SCARB2_ENST00000452464.2_Missense_Mutation_p.E73Q	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	73					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.E73Q(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AGGATCTCCTCTGGATTGGTG	0.488																																							uc003hju.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GAG>CAG		scavenger receptor class B, member 2							81.0	81.0	81.0					4																	77116918		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77116918C>G	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.217G>C	4.37:g.77116918C>G	ENSP00000264896:p.Glu73Gln					SCARB2_uc011cbu.1_Missense_Mutation_p.E73Q	p.E73Q	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		2	556	-			73			Lumenal (Potential).		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.217G>C	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161036	0.38119	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73789	-0.78;-0.78	5.55	3.8	0.43715	.	0.605125	0.17507	N	0.171775	T	0.67534	0.2903	L	0.60904	1.88	0.09310	N	1	B;B	0.25235	0.023;0.121	B;B	0.32022	0.03;0.139	T	0.57728	-0.7761	10	0.35671	T	0.21	.	4.1938	0.10433	0.1538:0.467:0.2976:0.0816	.	73;73	E7EM68;Q14108	.;SCRB2_HUMAN	Q	73	ENSP00000264896:E73Q;ENSP00000399154:E73Q	ENSP00000264896:E73Q	E	-	1	0	SCARB2	77335942	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.122000	0.10627	1.326000	0.45319	0.585000	0.79938	GAG		0.488	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		7	127	0	0	0	0.001984	0	7	127				
CNOT6L	246175	broad.mit.edu	37	4	78652569	78652569	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:78652569T>G	ENST00000504123.1	-	9	1126	c.996A>C	c.(994-996)ttA>ttC	p.L332F	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L332F			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	332	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.L361F(1)|p.L332F(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGTGGACCTCTAATACCACAG	0.388																																							uc011ccd.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(994-996)TTA>TTC		CCR4-NOT transcription complex, subunit 6-like							105.0	101.0	102.0					4																	78652569		2153	4288	6441	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78652569T>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.996A>C	4.37:g.78652569T>G	ENSP00000424896:p.Leu332Phe					CNOT6L_uc003hks.2_Missense_Mutation_p.L332F|CNOT6L_uc003hkt.1_Missense_Mutation_p.L175F	p.L332F	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			9	1127	-			332					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.996A>C		.	.	.	.	.	.	.	.	.	.	T	19.05	3.752732	0.69648	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.72	5.72	0.89469	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	L	0.55481	1.735	0.80722	D	1	D;P	0.53885	0.963;0.867	P;D	0.63381	0.86;0.914	D	0.84903	0.0843	10	0.52906	T	0.07	-2.5759	9.1495	0.36953	0.0:0.1412:0.0:0.8588	.	305;332	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	F	332;332;339;107	ENSP00000424896:L332F;ENSP00000264903:L332F;ENSP00000425571:L339F;ENSP00000426320:L107F	ENSP00000264903:L332F	L	-	3	2	CNOT6L	78871593	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	0.226000	0.17776	2.173000	0.68751	0.482000	0.46254	TTA		0.388	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			6	15	0	0	0	0.00308	0	6	15				
GK2	2712	broad.mit.edu	37	4	80329119	80329119	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:80329119T>C	ENST00000358842.3	-	1	253	c.236A>G	c.(235-237)aAt>aGt	p.N79S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	241					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.N79S(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TATATCAATATTCAGTTCGTC	0.428																																							uc003hlu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(235-237)AAT>AGT		glycerol kinase 2							175.0	171.0	172.0					4																	80329119		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329119T>C	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.236A>G	4.37:g.80329119T>C	ENSP00000351706:p.Asn79Ser						p.N79S	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	254	-			79					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.236A>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	2.140	-0.396915	0.04899	.	.	ENSG00000196475	ENST00000358842	T	0.58506	0.33	3.92	2.72	0.32119	Carbohydrate kinase, FGGY, N-terminal (1);	0.046249	0.85682	D	0.000000	T	0.41143	0.1146	L	0.31476	0.935	0.40227	D	0.977801	B	0.09022	0.002	B	0.08055	0.003	T	0.26573	-1.0099	10	0.40728	T	0.16	-5.9371	8.005	0.30319	0.0:0.1007:0.0:0.8993	.	79	Q14410	GLPK2_HUMAN	S	79	ENSP00000351706:N79S	ENSP00000351706:N79S	N	-	2	0	GK2	80548143	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	4.370000	0.59517	0.859000	0.35456	0.477000	0.44152	AAT		0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		83	104	0	0	0	0.01441	0	83	104				
WDFY3	23001	broad.mit.edu	37	4	85716110	85716111	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:85716110_85716111CC>AG	ENST00000295888.4	-	20	3596_3597	c.3189_3190GG>CT	c.(3187-3192)ttGGcc>ttCTcc	p.1063_1064LA>FS	WDFY3_ENST00000322366.6_Missense_Mutation_p.1063_1064LA>FS	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1063					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L1063_A1064>FS(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTATGAGGGGCCAAACTGGGCA	0.391																																							uc003hpd.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3187-3192)TTGGCC>TTCTCC		WD repeat and FYVE domain containing 3 isoform																																				SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85716110_85716111CC>AG	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3189_3190delinsAG	4.37:g.85716110_85716111delinsAG	ENSP00000295888:p.L1063_A1064delinsFS						p.1063_1064LA>FS	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	20	3597_3598	-		Hepatocellular(203;0.114)	1063_1064					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	DNP	ENST00000295888.4	37	c.3189_3190GG>CT	CCDS3609.1																																																																																				0.391	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	19	0	0	0	0.004672	0	8	19				
HERC6	55008	broad.mit.edu	37	4	89334306	89334306	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:89334306C>T	ENST00000264346.7	+	12	1505	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	HERC6_ENST00000380265.5_Silent_p.F482F	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	482					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F482F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TATCAGTTTTCCTCCTGCTCC	0.443																																							uc011cdi.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(1444-1446)TTC>TTT		hect domain and RLD 6 isoform 1							210.0	205.0	207.0					4																	89334306		1957	4184	6141	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334306C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1446C>T	4.37:g.89334306C>T						HERC6_uc011cdj.1_Silent_p.F482F|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.F482F	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1629	+		Hepatocellular(203;0.114)	482					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.1446C>T	CCDS47098.1																																																																																				0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			30	226	0	0	0	0.012213	0	30	226				
GRID2	2895	broad.mit.edu	37	4	93225765	93225765	+	5'UTR	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:93225765T>A	ENST00000282020.4	+	0	216				GRID2_ENST00000510992.1_5'Flank|GRID2_ENST00000505687.1_3'UTR|RP11-9B6.1_ENST00000504213.1_5'Flank	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AAAAAAAAAATTGGAAGAAAA	0.423																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(-44--40)AATTG>AAATG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						72.0	72.0	72.0					4																	93225765		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93225765T>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.-43T>A	4.37:g.93225765T>A						GRID2_uc010ikx.2_Translation_Start_Site|GRID2_uc011cdu.1_Translation_Start_Site		NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	1	216	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)						E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Translation_Start_Site	SNP	ENST00000282020.4	37	c.-42T>A	CCDS3637.1																																																																																				0.423	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			11	28	0	0	0	0.001855	0	11	28				
FAT4	79633	broad.mit.edu	37	4	126240611	126240611	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:126240611C>T	ENST00000394329.3	+	1	3058	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1015F(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCTCGATTCTTTAAAGTAC	0.393																																							uc003ifj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3043-3045)TTC>TTT		FAT tumor suppressor homolog 4 precursor							98.0	92.0	94.0					4																	126240611		1862	4098	5960	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240611C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3045C>T	4.37:g.126240611C>T							p.F1015F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3045	+			1015			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3045C>T	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		36	67	0	0	0	0.004878	0	36	67				
SCLT1	132320	broad.mit.edu	37	4	129925026	129925026	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:129925026T>C	ENST00000281142.5	-	6	799	c.296A>G	c.(295-297)cAc>cGc	p.H99R	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Missense_Mutation_p.H99R|SCLT1_ENST00000503215.1_Missense_Mutation_p.H76R	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	99					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.H99R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TAATTCACTGTGCAACCTTTG	0.368																																							uc003igp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(295-297)CAC>CGC		sodium channel associated protein 1							119.0	114.0	115.0					4																	129925026		2202	4300	6502	SO:0001583	missense	132320					centrosome		g.chr4:129925026T>C	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.296A>G	4.37:g.129925026T>C	ENSP00000281142:p.His99Arg					SCLT1_uc003igq.2_Missense_Mutation_p.H99R|SCLT1_uc010iob.1_Intron	p.H99R	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			6	802	-			99			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.296A>G	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306750	0.60305	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.08370	3.1;3.1;3.1	5.13	5.13	0.70059	.	0.051222	0.85682	D	0.000000	T	0.19087	0.0458	L	0.36672	1.1	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.01702	-1.1292	9	.	.	.	-10.1345	13.9303	0.63991	0.0:0.0:0.0:1.0	.	99;99	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	R	99;99;76	ENSP00000281142:H99R;ENSP00000401539:H99R;ENSP00000424029:H76R	.	H	-	2	0	SCLT1	130144476	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.447000	0.66606	1.951000	0.56629	0.374000	0.22700	CAC		0.368	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		15	24	0	0	0	0.014323	0	15	24				
NAA15	80155	broad.mit.edu	37	4	140270690	140270690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:140270690G>A	ENST00000296543.5	+	7	1089	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.E256K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	256					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E256K(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGAAATCCTGAAAACTGGGC	0.323																																							uc003ihu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(766-768)GAA>AAA		NMDA receptor regulated 1							45.0	43.0	43.0					4																	140270690		1799	4077	5876	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140270690G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.766G>A	4.37:g.140270690G>A	ENSP00000296543:p.Glu256Lys						p.E256K	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			7	1022	+			256			TPR 4.		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.766G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123761	0.94429	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.55234	0.53;0.53	5.44	4.6	0.57074	Tetratricopeptide-like helical (1);	0.102934	0.64402	D	0.000005	T	0.71676	0.3368	M	0.89353	3.025	0.80722	D	1	P	0.42409	0.779	P	0.52267	0.694	T	0.78425	-0.2209	10	0.72032	D	0.01	-17.2601	15.8229	0.78673	0.0:0.0:0.8632:0.1368	.	256	Q9BXJ9	NAA15_HUMAN	K	256;130;256	ENSP00000296543:E256K;ENSP00000381920:E256K	ENSP00000296543:E256K	E	+	1	0	NAA15	140490140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	1.517000	0.48917	0.655000	0.94253	GAA		0.323	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		7	30	0	0	0	0.008291	0	7	30				
INPP4B	8821	broad.mit.edu	37	4	143081533	143081533	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:143081533G>A	ENST00000513000.1	-	18	1974	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	INPP4B_ENST00000509777.1_Missense_Mutation_p.S514L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S514L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S514L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S514L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	514					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.S514L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATCATAGTCTGAATGATGTGG	0.473																																							uc003iix.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1540-1542)TCA>TTA		inositol polyphosphate-4-phosphatase, type II,							217.0	184.0	195.0					4																	143081533		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143081533G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1541C>T	4.37:g.143081533G>A	ENSP00000425487:p.Ser514Leu					INPP4B_uc003iiw.3_Missense_Mutation_p.S514L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.S329L|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.S385L	p.S514L	NM_003866	NP_003857	O15327	INP4B_HUMAN			18	2136	-	all_hematologic(180;0.158)		514					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1541C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200931	0.58234	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.149505	0.47852	D	0.000217	T	0.48314	0.1493	L	0.42245	1.32	0.42899	D	0.994222	D;P	0.67145	0.996;0.499	D;B	0.77557	0.99;0.069	T	0.26780	-1.0093	10	0.26408	T	0.33	.	18.8291	0.92130	0.0:0.0:1.0:0.0	.	385;514	B7Z6T2;O15327	.;INP4B_HUMAN	L	514;514;514;385;514;514;329;329;514;385	ENSP00000425487:S514L;ENSP00000262992:S514L;ENSP00000308441:S514L;ENSP00000423954:S514L;ENSP00000422793:S514L;ENSP00000426207:S329L;ENSP00000427250:S514L;ENSP00000421065:S385L	ENSP00000262992:S514L	S	-	2	0	INPP4B	143300983	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	5.636000	0.67848	2.461000	0.83175	0.650000	0.86243	TCA		0.473	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		14	68	0	0	0	0.00245	0	14	68				
FAT1	2195	broad.mit.edu	37	4	187627769	187627769	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:187627769G>A	ENST00000441802.2	-	2	3422	c.3213C>T	c.(3211-3213)taC>taT	p.Y1071Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1071	Cadherin 9. {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)	p.Y1071Y(2)		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						CTCTAATGGAGTATCGGATCT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3211-3213)TAC>TAT		FAT tumor suppressor 1 precursor							151.0	150.0	150.0					4																	187627769		1968	4151	6119	SO:0001819	synonymous_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.chr4:187627769G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3213C>T	4.37:g.187627769G>A		HNSCC(5;0.00058)				FAT1_uc010iso.1_Silent_p.Y1071Y	p.Y1071Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	3401	-			1071			Extracellular (Potential).|Cadherin 9.			Silent	SNP	ENST00000441802.2	37	c.3213C>T	CCDS47177.1																																																																																				0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		45	140	0	0	0	0.01441	0	45	140				
CEP72	55722	broad.mit.edu	37	5	639206	639206	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:639206G>A	ENST00000264935.5	+	8	1299	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	403					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.P403P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CATCACAGCCGTCTCCCGGGT	0.652																																							uc003jbf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1207-1209)CCG>CCA		centrosomal protein 72 kDa							43.0	46.0	45.0					5																	639206		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639206G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1209G>A	5.37:g.639206G>A						CEP72_uc011clz.1_RNA	p.P403P	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1281	+			403					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1209G>A	CCDS34126.1																																																																																				0.652	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		14	94	0	0	0	0.001855	0	14	94				
ZDHHC11	79844	broad.mit.edu	37	5	840734	840734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:840734G>T	ENST00000283441.8	-	5	1043	c.660C>A	c.(658-660)ttC>ttA	p.F220L	ZDHHC11_ENST00000511539.1_Missense_Mutation_p.F7L|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.F220L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	220						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)			ACAGGGGGAGGAACAGCAGCC	0.592																																							uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(658-660)TTC>TTA		zinc finger, DHHC-type containing 11							235.0	275.0	261.0					5																	840734		2203	4300	6503	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840734G>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.660C>A	5.37:g.840734G>T	ENSP00000283441:p.Phe220Leu					ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Missense_Mutation_p.F7L	p.F220L	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)		5	1044	-			220					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.660C>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	10.65	1.409798	0.25465	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511539	T;T;T	0.61627	1.6;1.6;0.09	2.74	0.906	0.19314	.	.	.	.	.	T	0.62282	0.2415	L	0.50333	1.59	0.25946	N	0.982813	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.52026	-0.8630	9	0.16896	T	0.51	-6.5506	5.126	0.14884	0.4219:0.0:0.5781:0.0	.	220;7	Q9H8X9;Q6UWR9	ZDH11_HUMAN;.	L	220;220;7	ENSP00000397719:F220L;ENSP00000283441:F220L;ENSP00000427067:F7L	ENSP00000283441:F220L	F	-	3	2	ZDHHC11	893734	0.829000	0.29322	0.946000	0.38457	0.038000	0.13279	0.035000	0.13797	0.220000	0.20860	0.400000	0.26472	TTC		0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		38	721	1	0	6.03219e-31	0.01441	7.45153e-31	38	721				
FBXL7	23194	broad.mit.edu	37	5	15937008	15937008	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:15937008C>T	ENST00000504595.1	+	4	1670	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	FBXL7_ENST00000510662.1_Missense_Mutation_p.L350F|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.L385F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	397					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L397F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTGGAGTACCTCGCCAAGAA	0.602																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1189-1191)CTC>TTC		F-box and leucine-rich repeat protein 7							95.0	103.0	100.0					5																	15937008		2172	4255	6427	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937008C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1189C>T	5.37:g.15937008C>T	ENSP00000423630:p.Leu397Phe						p.L397F	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1670	+			397			LRR 9.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1189C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898921	0.72754	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.64260	-0.09;2.79;-0.09	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82965	-0.0195	10	0.52906	T	0.07	.	19.109	0.93309	0.0:1.0:0.0:0.0	.	397	Q9UJT9	FBXL7_HUMAN	F	397;350;385	ENSP00000423630:L397F;ENSP00000425184:L350F;ENSP00000329632:L385F	ENSP00000329632:L385F	L	+	1	0	FBXL7	15990008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.876000	0.56115	2.525000	0.85131	0.655000	0.94253	CTC		0.602	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		6	29	0	0	0	0.00308	0	6	29				
CDH10	1008	broad.mit.edu	37	5	24537720	24537720	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:24537720C>A	ENST00000264463.4	-	3	802	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G99C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAAGAGTACCAGCTCCATCT	0.373										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(295-297)GGT>TGT		cadherin 10, type 2 preproprotein							86.0	84.0	85.0					5																	24537720		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537720C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.295G>T	5.37:g.24537720C>A	ENSP00000264463:p.Gly99Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G99C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	627	-			99			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.295G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632093	0.87660	.	.	ENSG00000040731	ENST00000264463	T	0.55052	0.54	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85874	0.1418	10	0.87932	D	0	.	19.2219	0.93801	0.0:1.0:0.0:0.0	.	99	Q9Y6N8	CAD10_HUMAN	C	99	ENSP00000264463:G99C	ENSP00000264463:G99C	G	-	1	0	CDH10	24573477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.791000	0.96007	0.563000	0.77884	GGT		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	36	1	0	6.40141e-05	0.010729	6.74131e-05	9	36				
CDH9	1007	broad.mit.edu	37	5	26906156	26906156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:26906156C>A	ENST00000231021.4	-	5	895	c.723G>T	c.(721-723)atG>atT	p.M241I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M241I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTGGCCACCCATGTCTTTGG	0.448																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(721-723)ATG>ATT		cadherin 9, type 2 preproprotein							235.0	212.0	220.0					5																	26906156		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906156C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.723G>T	5.37:g.26906156C>A	ENSP00000231021:p.Met241Ile					CDH9_uc010iug.2_Missense_Mutation_p.M241I	p.M241I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			5	892	-			241			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.723G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195328	0.78902	.	.	ENSG00000113100	ENST00000231021	T	0.51817	0.69	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	L	0.55990	1.75	0.80722	D	1	B	0.30211	0.273	B	0.34991	0.193	T	0.36065	-0.9763	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	241	Q9ULB4	CADH9_HUMAN	I	241	ENSP00000231021:M241I	.	M	-	3	0	CDH9	26941913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	ATG		0.448	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		34	104	1	0	1.07637e-12	0.004878	1.23161e-12	34	104				
RAI14	26064	broad.mit.edu	37	5	34824141	34824141	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:34824141G>C	ENST00000265109.3	+	15	2481	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q	RAI14_ENST00000512629.1_Missense_Mutation_p.E703Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E735Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E732Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E732Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E724Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E725Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	732						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTATCACAGAACATTTGCA	0.413																																							uc003jir.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2194-2196)GAA>CAA		retinoic acid induced 14 isoform a							76.0	73.0	74.0					5																	34824141		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824141G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2194G>C	5.37:g.34824141G>C	ENSP00000265109:p.Glu732Gln					RAI14_uc010iur.2_Missense_Mutation_p.E703Q|RAI14_uc011coj.1_Missense_Mutation_p.E732Q|RAI14_uc003jis.2_Missense_Mutation_p.E735Q|RAI14_uc003jit.2_Missense_Mutation_p.E732Q|RAI14_uc011cok.1_Missense_Mutation_p.E724Q	p.E732Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2390	+	all_lung(31;0.000191)		732			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2194G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226826	0.79576	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.41065	1.03;1.01;1.03;1.03;1.03;1.08;1.07	5.59	5.59	0.84812	.	.	.	.	.	T	0.55970	0.1954	L	0.29908	0.895	0.49051	D	0.999742	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.994;0.974;0.995	T	0.57682	-0.7769	9	0.62326	D	0.03	-24.8972	19.5805	0.95465	0.0:0.0:1.0:0.0	.	724;703;735;732	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	732;703;732;732;735;724;725	ENSP00000265109:E732Q;ENSP00000422377:E703Q;ENSP00000388725:E732Q;ENSP00000422942:E732Q;ENSP00000427123:E735Q;ENSP00000423854:E724Q;ENSP00000380591:E725Q	ENSP00000265109:E732Q	E	+	1	0	RAI14	34859898	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.715000	0.91416	2.635000	0.89317	0.555000	0.69702	GAA		0.413	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		5	81	0	0	0	0.001168	0	5	81				
PRKAA1	5562	broad.mit.edu	37	5	40764982	40764982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:40764982G>C	ENST00000397128.2	-	7	1188	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PRKAA1_ENST00000354209.3_Missense_Mutation_p.P409A	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	394					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)	p.P409A(1)		breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATTTCTGTGGATTTAATTCA	0.418																																							uc003jmc.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1180-1182)CCA>GCA		protein kinase, AMP-activated, alpha 1 catalytic	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						112.0	99.0	103.0					5																	40764982		1918	4134	6052	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40764982G>C		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1180C>G	5.37:g.40764982G>C	ENSP00000380317:p.Pro394Ala					PRKAA1_uc003jmb.2_Missense_Mutation_p.P409A	p.P394A	NM_006251	NP_006242	Q13131	AAPK1_HUMAN			7	1186	-			394					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.1180C>G	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988584	0.53934	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.71934	-0.53;-0.61	6.16	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.41356	1.27	0.80722	D	1	P;P	0.39831	0.563;0.69	B;B	0.42343	0.214;0.384	T	0.66658	-0.5868	10	0.37606	T	0.19	-14.0223	17.0255	0.86444	0.0:0.0:0.8717:0.1283	.	394;409	Q13131;Q13131-2	AAPK1_HUMAN;.	A	394;409	ENSP00000380317:P394A;ENSP00000346148:P409A	ENSP00000346148:P409A	P	-	1	0	AC008810.1	40800739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	1.606000	0.50161	0.650000	0.86243	CCA		0.418	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		8	51	0	0	0	0.00308	0	8	51				
RAD17	5884	broad.mit.edu	37	5	68670478	68670478	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:68670478G>A	ENST00000509734.1	+	5	1002	c.324G>A	c.(322-324)aaG>aaA	p.K108K	RAD17_ENST00000354312.3_Silent_p.K97K|RAD17_ENST00000354868.5_Silent_p.K97K|RAD17_ENST00000361732.2_Silent_p.K97K|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.K108K|RAD17_ENST00000282891.6_Silent_p.K11K|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Silent_p.K97K|RAD17_ENST00000305138.4_Silent_p.K97K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	108					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K97K(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGCATAAAAAGAAAATTGAAG	0.284								Other conserved DNA damage response genes																															uc003jwo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)AAG>AAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							50.0	55.0	53.0					5																	68670478		2203	4294	6497	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68670478G>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.324G>A	5.37:g.68670478G>A						RAD17_uc003jwg.2_Silent_p.K97K|RAD17_uc003jwh.2_Silent_p.K97K|RAD17_uc003jwi.2_Silent_p.K97K|RAD17_uc003jwj.2_Silent_p.K97K|RAD17_uc003jwk.2_Silent_p.K97K|RAD17_uc003jwl.2_Silent_p.K97K|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Silent_p.K11K	p.K108K	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	3	386	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	108					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.324G>A	CCDS4003.1																																																																																				0.284	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	28	0	0	0	0.001168	0	5	28				
PCDHB12	56124	broad.mit.edu	37	5	140589829	140589829	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:140589829C>T	ENST00000239450.2	+	1	1539	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	PCDHB12_ENST00000541609.1_Silent_p.A113A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A450A(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCCCCGCCTTCACCCAAA	0.602																																							uc003liz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1348-1350)GCC>GCT		protocadherin beta 12 precursor							106.0	101.0	102.0					5																	140589829		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589829C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1350C>T	5.37:g.140589829C>T						PCDHB12_uc011dak.1_Silent_p.A113A	p.A450A	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1539	+			450			Extracellular (Potential).|Cadherin 4.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1350C>T	CCDS4254.1																																																																																				0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		64	61	0	0	0	0.01441	0	64	61				
PCDHGB3	56102	broad.mit.edu	37	5	140777700	140777700	+	Intron	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:140777700G>T	ENST00000576222.1	+	1	2546				PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGATGGGGAGCGGCGCCG	0.577											OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003lkf.1		NA																	0					0						c.(4-6)GGG>GGT		protocadherin gamma subfamily B, 5 isoform 1							7.0	11.0	10.0					5																	140777700		1770	4004	5774	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140777700G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25324G>T	5.37:g.140777700G>T			OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G2G	p.G2G	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	6	+			2					A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.6G>T	CCDS58980.1																																																																																				0.577	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		3	5	1	0	2.56e-06	0.009096	2.7445e-06	3	5				
SLC17A2	10246	broad.mit.edu	37	6	25917311	25917311	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:25917311G>A	ENST00000265425.3	-	6	674	c.654C>T	c.(652-654)agC>agT	p.S218S	SLC17A2_ENST00000360488.3_Silent_p.S218S|SLC17A2_ENST00000377850.3_Silent_p.S218S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	218					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.S218S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CACAGCCAGTGCTACCTGGGA	0.463																																							uc011dkb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)AGC>AGT		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							111.0	98.0	102.0					6																	25917311		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25917311G>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.654C>T	6.37:g.25917311G>A						SLC17A2_uc011dkc.1_Silent_p.S218S|SLC17A2_uc003nfl.2_Silent_p.S218S	p.S218S			O00624	NPT3_HUMAN			6	737	-			218			Helical; (Potential).		A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.654C>T																																																																																					0.463	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			8	99	0	0	0	0.010729	0	8	99				
OR2J3	442186	broad.mit.edu	37	6	29080183	29080183	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:29080183T>A	ENST00000377169.1	+	1	516	c.516T>A	c.(514-516)tgT>tgA	p.C172*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172*(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TACCTCTGTGTGGACACCGCC	0.493																																							uc011dll.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(514-516)TGT>TGA		olfactory receptor, family 2, subfamily J,							146.0	155.0	152.0					6																	29080183		1291	2574	3865	SO:0001587	stop_gained	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080183T>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.516T>A	6.37:g.29080183T>A	ENSP00000366374:p.Cys172*						p.C172*	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	516	+			172			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Nonsense_Mutation	SNP	ENST00000377169.1	37	c.516T>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415738	0.25552	.	.	ENSG00000204701	ENST00000377169	.	.	.	2.78	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2096	0.25927	0.0:0.1199:0.0:0.8801	.	.	.	.	X	172	.	ENSP00000366374:C172X	C	+	3	2	OR2J3	29188162	0.910000	0.30920	0.962000	0.40283	0.209000	0.24338	0.306000	0.19279	1.268000	0.44264	0.358000	0.22013	TGT		0.493	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			14	121	0	0	0	0.00245	0	14	121				
PBX2	5089	broad.mit.edu	37	6	32156269	32156270	+	Missense_Mutation	DNP	CG	CG	GA			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:32156269_32156270CG>GA	ENST00000375050.4	-	3	577_578	c.307_308CG>TC	c.(307-309)CGg>TCg	p.R103S	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	103					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R103S(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGGAGCTCCGAATGCTGAGG	0.629																																							uc003oav.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)CGG>TCG		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32156269_32156270CG>GA		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.307_308delinsGA	6.37:g.32156269_32156270delinsGA	ENSP00000364190:p.Arg103Ser					PBX2_uc003oaw.2_Missense_Mutation_p.R103S	p.R103S	NM_002586	NP_002577	P40425	PBX2_HUMAN			3	578_579	-			103					A2BFJ2	Missense_Mutation	DNP	ENST00000375050.4	37	c.307_308CG>TC	CCDS4748.1																																																																																				0.629	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			13	37	0	0	0	0.004672	0	13	37				
DAXX	1616	broad.mit.edu	37	6	33289610	33289610	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:33289610C>T	ENST00000374542.5	-	2	297	c.93G>A	c.(91-93)gcG>gcA	p.A31A	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.A31A	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	31	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CAGGTGAGGCCGCATTGGGGA	0.592			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																		uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(91-93)GCG>GCA		death-domain associated protein isoform a							94.0	101.0	98.0					6																	33289610		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289610C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.93G>A	6.37:g.33289610C>T						DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Silent_p.A43A|DAXX_uc003oed.2_Silent_p.A31A|DAXX_uc010juw.2_5'UTR	p.A31A	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			2	297	-			31			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.93G>A	CCDS4776.1																																																																																				0.592	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			126	135	0	0	0	0.01441	0	126	135				
KIF6	221458	broad.mit.edu	37	6	39512386	39512386	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:39512386T>C	ENST00000287152.7	-	12	1465	c.1371A>G	c.(1369-1371)aaA>aaG	p.K457K	KIF6_ENST00000373215.3_Silent_p.K457K|KIF6_ENST00000373213.4_Silent_p.K296K|KIF6_ENST00000538893.1_Silent_p.K457K|KIF6_ENST00000373216.3_Silent_p.K457K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	457					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K457K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTCTTCTTCTTTTAATGGTT	0.338																																							uc003oot.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(1369-1371)AAA>AAG		kinesin family member 6							176.0	162.0	166.0					6																	39512386		2203	4298	6501	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39512386T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1371A>G	6.37:g.39512386T>C						KIF6_uc010jxa.1_Silent_p.K248K|KIF6_uc011dua.1_Silent_p.K457K|KIF6_uc010jxb.1_Silent_p.K457K	p.K457K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			12	1466	-			457			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1371A>G	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	T	7.163	0.586086	0.13749	.	.	ENSG00000164627	ENST00000458470	T	0.74002	-0.8	5.61	1.73	0.24493	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.32107	-0.9919	6	0.16420	T	0.52	.	6.2072	0.20610	0.0:0.3637:0.0:0.6363	.	.	.	.	R	349	ENSP00000409417:K349R	ENSP00000409417:K349R	K	-	2	0	KIF6	39620364	0.050000	0.20438	0.433000	0.26760	0.784000	0.44337	0.043000	0.13971	0.355000	0.24131	0.533000	0.62120	AAG		0.338	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		6	63	0	0	0	0.001168	0	6	63				
FRS3	10817	broad.mit.edu	37	6	41743230	41743230	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:41743230G>T	ENST00000373018.3	-	4	431	c.180C>A	c.(178-180)ctC>ctA	p.L60L	FRS3_ENST00000259748.2_Silent_p.L60L|FRS3_ENST00000466420.1_5'Flank	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	60	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.L60L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCGCAAGCAGAGATAAGGCC	0.632																																							uc003orc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(178-180)CTC>CTA		fibroblast growth factor receptor substrate 3							60.0	56.0	57.0					6																	41743230		2203	4300	6503	SO:0001819	synonymous_variant	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41743230G>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.180C>A	6.37:g.41743230G>T							p.L60L	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	424	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		60			IRS-type PTB.		Q5T3D5	Silent	SNP	ENST00000373018.3	37	c.180C>A	CCDS4860.1																																																																																				0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		6	38	1	0	0.000157383	0.00308	0.000164286	6	38				
AARS2	57505	broad.mit.edu	37	6	44274243	44274243	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:44274243C>A	ENST00000244571.4	-	8	1178	c.1176G>T	c.(1174-1176)agG>agT	p.R392S	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R392S(1)		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)			GGGCTGAGTTCCTTTGCAGTT	0.592																																							uc010jza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)AGG>AGT		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						217.0	208.0	211.0					6																	44274243		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44274243C>A	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.1176G>T	6.37:g.44274243C>A	ENSP00000244571:p.Arg392Ser					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.R392S	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	1179	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		392						Missense_Mutation	SNP	ENST00000244571.4	37	c.1176G>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115582	0.37339	.	.	ENSG00000124608	ENST00000244571	T	0.57752	0.38	4.48	3.6	0.41247	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);	0.578795	0.19063	N	0.123711	T	0.18383	0.0441	N	0.21324	0.655	0.24931	N	0.991917	B	0.24317	0.101	B	0.25506	0.061	T	0.11275	-1.0594	10	0.51188	T	0.08	-7.9019	7.5598	0.27845	0.1661:0.7509:0.0:0.083	.	392	Q5JTZ9	SYAM_HUMAN	S	392	ENSP00000244571:R392S	ENSP00000244571:R392S	R	-	3	2	AARS2	44382221	0.994000	0.37717	0.947000	0.38551	0.935000	0.57460	1.392000	0.34486	1.095000	0.41419	0.561000	0.74099	AGG		0.592	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		26	732	1	0	9.21846e-06	0.013726	9.82386e-06	26	732				
PGK2	5232	broad.mit.edu	37	6	49753774	49753774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:49753774G>T	ENST00000304801.3	-	1	1279	c.1127C>A	c.(1126-1128)aCt>aAt	p.T376N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	376					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.T376N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAAGTAGCAGTGTCTCCACC	0.488																																							uc003ozu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)ACT>AAT		phosphoglycerate kinase 2							159.0	154.0	155.0					6																	49753774		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753774G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1127C>A	6.37:g.49753774G>T	ENSP00000305995:p.Thr376Asn						p.T376N	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1234	-	Lung NSC(77;0.0402)		376			ATP (By similarity).		B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.1127C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114682	0.77210	.	.	ENSG00000170950	ENST00000304801	D	0.93366	-3.21	4.19	4.19	0.49359	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98588	1.0653	10	0.87932	D	0	-20.5366	14.804	0.69938	0.0:0.0:1.0:0.0	.	376	P07205	PGK2_HUMAN	N	376	ENSP00000305995:T376N	ENSP00000305995:T376N	T	-	2	0	PGK2	49861733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.619000	0.88677	0.585000	0.79938	ACT		0.488	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			81	218	1	0	1.19347e-43	0.01441	1.50554e-43	81	218				
ME1	4199	broad.mit.edu	37	6	84025049	84025049	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:84025049G>A	ENST00000369705.3	-	6	800	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ME1_ENST00000541327.1_Silent_p.F62F|ME1_ENST00000543031.1_Silent_p.F153F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	228					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.F228F(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CTGCCTCCATGAATTCGTCCA	0.308																																							uc003pjy.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(682-684)TTC>TTT		cytosolic malic enzyme 1	NADH(DB00157)						105.0	107.0	106.0					6																	84025049		2203	4300	6503	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84025049G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.684C>T	6.37:g.84025049G>A						ME1_uc011dzb.1_Silent_p.F153F|ME1_uc011dzc.1_Silent_p.F62F	p.F228F	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	6	790	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	228					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.684C>T	CCDS34492.1																																																																																				0.308	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			7	64	0	0	0	0.006214	0	7	64				
MDN1	23195	broad.mit.edu	37	6	90438775	90438775	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:90438775C>A	ENST00000369393.3	-	36	5339	c.5224G>T	c.(5224-5226)Gct>Tct	p.A1742S	MDN1_ENST00000428876.1_Missense_Mutation_p.A1742S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1742					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.A1742S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTTGGTAGCTCTTAAGAGC	0.478																																							uc003pnn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(5224-5226)GCT>TCT		MDN1, midasin homolog							93.0	78.0	83.0					6																	90438775		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90438775C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5224G>T	6.37:g.90438775C>A	ENSP00000358400:p.Ala1742Ser						p.A1742S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	36	5340	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1742					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5224G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382682	0.82792	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.50001	0.76;0.76	5.75	5.75	0.90469	.	0.054043	0.64402	D	0.000001	T	0.61961	0.2389	L	0.61387	1.9	0.80722	D	1	D	0.55800	0.973	D	0.69654	0.965	T	0.60707	-0.7210	10	0.54805	T	0.06	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	1742	Q9NU22	MDN1_HUMAN	S	1742	ENSP00000358400:A1742S;ENSP00000413970:A1742S	ENSP00000358400:A1742S	A	-	1	0	MDN1	90495496	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.792000	0.85828	2.712000	0.92718	0.591000	0.81541	GCT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	65	1	0	0.00198382	0.001984	0.00204689	7	65				
MDN1	23195	broad.mit.edu	37	6	90503650	90503650	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:90503650T>A	ENST00000369393.3	-	5	801	c.686A>T	c.(685-687)cAg>cTg	p.Q229L	MDN1_ENST00000428876.1_Missense_Mutation_p.Q229L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	229					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q229L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGTCCTGCAACTGGGC	0.498																																							uc003pnn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(685-687)CAG>CTG		MDN1, midasin homolog							61.0	54.0	56.0					6																	90503650		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90503650T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.686A>T	6.37:g.90503650T>A	ENSP00000358400:p.Gln229Leu					MDN1_uc003pnp.1_Missense_Mutation_p.Q229L	p.Q229L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	5	802	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	229					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.686A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199998	0.38905	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17370	4.03;4.03;2.28	5.32	5.32	0.75619	.	0.145674	0.48286	D	0.000185	T	0.05090	0.0136	N	0.17082	0.46	0.44409	D	0.997321	B;B	0.13145	0.007;0.004	B;B	0.12837	0.008;0.008	T	0.26258	-1.0108	10	0.25106	T	0.35	.	15.2935	0.73885	0.0:0.0:0.0:1.0	.	229;229	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	L	229	ENSP00000358400:Q229L;ENSP00000413970:Q229L;ENSP00000409664:Q229L	ENSP00000358400:Q229L	Q	-	2	0	MDN1	90560371	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.410000	0.59774	2.005000	0.58758	0.455000	0.32223	CAG		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			19	32	0	0	0	0.00278	0	19	32				
SCML4	256380	broad.mit.edu	37	6	108041921	108041921	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:108041921T>A	ENST00000369020.3	-	6	1204	c.959A>T	c.(958-960)gAa>gTa	p.E320V	SCML4_ENST00000369021.3_Missense_Mutation_p.E291V|SCML4_ENST00000369025.2_Missense_Mutation_p.E78V|SCML4_ENST00000369022.2_Missense_Mutation_p.E262V|SCML4_ENST00000479803.1_5'UTR	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	320	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E320V(1)|p.E291V(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCTGTTTCCTTCAAGAGAGGT	0.597																																							uc010kdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(958-960)GAA>GTA		sex comb on midleg-like 4							131.0	132.0	131.0					6																	108041921		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108041921T>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.959A>T	6.37:g.108041921T>A	ENSP00000358016:p.Glu320Val					SCML4_uc003prz.3_Missense_Mutation_p.E262V|SCML4_uc011eam.1_Missense_Mutation_p.E320V|SCML4_uc003pry.3_Missense_Mutation_p.E78V|SCML4_uc003psa.3_Missense_Mutation_p.E291V	p.E320V	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	6	1210	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	320			SAM.		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.959A>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482670	0.44147	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.60424	0.79;0.78;0.19	4.99	4.99	0.66335	Sterile alpha motif/pointed domain (1);	0.380247	0.22830	N	0.055116	T	0.61451	0.2348	M	0.68952	2.095	0.49051	D	0.999744	P;B;D	0.63046	0.943;0.073;0.992	P;B;P	0.58928	0.673;0.12;0.848	T	0.60801	-0.7191	10	0.33141	T	0.24	.	14.8482	0.70275	0.0:0.0:0.0:1.0	.	320;320;291	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	V	262;78;320;291	ENSP00000358018:E262V;ENSP00000358016:E320V;ENSP00000358017:E291V	ENSP00000358016:E320V	E	-	2	0	SCML4	108148614	1.000000	0.71417	0.980000	0.43619	0.570000	0.35934	5.151000	0.64875	2.094000	0.63399	0.533000	0.62120	GAA		0.597	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		40	189	0	0	0	0.009718	0	40	189				
LAMA2	3908	broad.mit.edu	37	6	129762061	129762061	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:129762061C>T	ENST00000421865.2	+	43	6235	c.6186C>T	c.(6184-6186)ctC>ctT	p.L2062L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2062	Domain II and I.				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)	p.L2062L(1)		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)		ACCAGAACCTCGATGGCCTGA	0.443																																							uc003qbn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(6184-6186)CTC>CTT		laminin alpha 2 subunit isoform a precursor							115.0	102.0	106.0					6																	129762061		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.chr6:129762061C>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.6186C>T	6.37:g.129762061C>T						LAMA2_uc003qbo.2_Silent_p.L2062L	p.L2062L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6291	+			2062			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.6186C>T	CCDS5138.1																																																																																				0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	74	0	0	0	0.000602	0	4	74				
AHI1	54806	broad.mit.edu	37	6	135763829	135763829	+	Missense_Mutation	SNP	G	G	C	rs375537062		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:135763829G>C	ENST00000367800.4	-	12	2019	c.1803C>G	c.(1801-1803)caC>caG	p.H601Q	AHI1_ENST00000457866.2_Missense_Mutation_p.H601Q|AHI1_ENST00000327035.6_Missense_Mutation_p.H601Q|AHI1_ENST00000417892.2_5'Flank	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	601					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.H601Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGAGAAGAGGTGTTTGTTTG	0.373																																							uc003qgi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1801-1803)CAC>CAG		Abelson helper integration site 1 isoform a		G	GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS	0,3662		0,0,1831	60.0	53.0	55.0		1803,1803,1803,1803	2.0	1.0	6		55	1,8183		0,1,4091	no	missense,missense,missense,missense	AHI1	NM_001134830.1,NM_001134831.1,NM_001134832.1,NM_017651.4	24,24,24,24	0,1,5922	CC,CG,GG		0.0122,0.0,0.0084	benign,benign,benign,benign	601/1197,601/1197,601/1054,601/1197	135763829	1,11845	1831	4092	5923	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135763829G>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1803C>G	6.37:g.135763829G>C	ENSP00000356774:p.His601Gln					AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.H51Q|AHI1_uc003qgh.2_Missense_Mutation_p.H601Q|AHI1_uc003qgj.2_Missense_Mutation_p.H601Q|AHI1_uc003qgk.3_Intron|AHI1_uc003qgl.3_Missense_Mutation_p.H601Q	p.H601Q	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	14	2187	-	Breast(56;0.239)|Colorectal(23;0.24)		601					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1803C>G	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378983|2.378983	0.42207|0.42207	0.0|0.0	1.22E-4|1.22E-4	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.58797|.	0.36;0.36;0.36;0.31|.	5.82|5.82	2.02|2.02	0.26589|0.26589	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.164825|.	0.53938|.	D|.	0.000046|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B;B|.	0.29646|.	0.091;0.111;0.253|.	B;B;B|.	0.26693|.	0.047;0.045;0.072|.	T|T	0.04467|0.04467	-1.0949|-1.0949	10|5	0.23302|.	T|.	0.38|.	-7.264|-7.264	5.2136|5.2136	0.15331|0.15331	0.363:0.1404:0.4966:0.0|0.363:0.1404:0.4966:0.0	.|.	601;601;601|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	Q|S	601|101	ENSP00000356774:H601Q;ENSP00000388650:H601Q;ENSP00000265602:H601Q;ENSP00000322478:H601Q|.	ENSP00000265602:H601Q|.	H|T	-|-	3|2	2|0	AHI1|AHI1	135805522|135805522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	0.645000|0.645000	0.24782|0.24782	0.349000|0.349000	0.23975|0.23975	-0.126000|-0.126000	0.14955|0.14955	CAC|ACC		0.373	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		4	7	0	0	0	0.000602	0	4	7				
NUP43	348995	broad.mit.edu	37	6	150064778	150064778	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:150064778T>A	ENST00000340413.2	-	3	393	c.317A>T	c.(316-318)aAc>aTc	p.N106I	NUP43_ENST00000367403.3_Missense_Mutation_p.N167I|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.N106I|NUP43_ENST00000460354.2_Missense_Mutation_p.N106I	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	106					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.N106I(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CTTTACCTGGTTATTTGGATG	0.393																																							uc003qmz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(316-318)AAC>ATC		nucleoporin 43kDa							57.0	56.0	56.0					6																	150064778		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150064778T>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.317A>T	6.37:g.150064778T>A	ENSP00000342262:p.Asn106Ile					NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.N106I	p.N106I	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	3	374	-		Ovarian(120;0.0164)	106			WD 2.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.317A>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708183	0.68615	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.181464	0.56097	D	0.000023	T	0.67795	0.2931	M	0.68317	2.08	0.46131	D	0.998882	D;P	0.56521	0.976;0.514	P;B	0.49140	0.601;0.142	T	0.70073	-0.4972	10	0.40728	T	0.16	-22.0843	15.8076	0.78527	0.0:0.0:0.0:1.0	.	106;106	B4E2F0;Q8NFH3	.;NUP43_HUMAN	I	106;106;167;106;113	ENSP00000342262:N106I;ENSP00000432401:N106I;ENSP00000356373:N167I;ENSP00000356374:N106I;ENSP00000438031:N113I	ENSP00000342262:N106I	N	-	2	0	NUP43	150106471	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.735000	0.55044	2.130000	0.65690	0.533000	0.62120	AAC		0.393	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		16	23	0	0	0	0.008871	0	16	23				
TULP4	56995	broad.mit.edu	37	6	158924616	158924616	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:158924616G>A	ENST00000367097.3	+	13	5278	c.3921G>A	c.(3919-3921)gtG>gtA	p.V1307V	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1307					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1307V(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCACAGAGGTGATGGTAGAGA	0.592																																							uc003qrf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3919-3921)GTG>GTA		tubby like protein 4 isoform 1							56.0	59.0	58.0					6																	158924616		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924616G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3921G>A	6.37:g.158924616G>A						TULP4_uc003qrg.2_Intron	p.V1307V	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5278	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1307					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.3921G>A	CCDS34561.1																																																																																				0.592	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		14	99	0	0	0	0.003163	0	14	99				
PDGFA	5154	broad.mit.edu	37	7	552037	552037	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:552037C>G	ENST00000354513.5	-	3	608	c.216G>C	c.(214-216)aaG>aaC	p.K72N	PDGFA_ENST00000426681.2_5'Flank|PDGFA_ENST00000402802.3_Missense_Mutation_p.K72N	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	72					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K72N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGGGCACATGCTTAGTGGCAT	0.652																																							uc003sir.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(214-216)AAG>AAC		platelet-derived growth factor alpha isoform 1							64.0	61.0	62.0					7																	552037		2203	4296	6499	SO:0001583	missense	5154				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:552037C>G		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.216G>C	7.37:g.552037C>G	ENSP00000346508:p.Lys72Asn					PDGFA_uc003sis.2_Missense_Mutation_p.K72N|PDGFA_uc003sit.1_Missense_Mutation_p.K86N	p.K72N	NM_002607	NP_002598	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	3	1059	-		Ovarian(82;0.0112)	72					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.216G>C	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.796|4.796	0.148022|0.148022	0.09134|0.09134	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000400761|ENST00000402802;ENST00000354513	.|T;T	.|0.45276	.|0.9;0.9	5.03|5.03	2.89|2.89	0.33648|0.33648	.|Platelet-derived growth factor, N-terminal (1);	.|0.578545	.|0.17769	.|N	.|0.162650	T|T	0.30916|0.30916	0.0780|0.0780	L|L	0.47716|0.47716	1.5|1.5	0.27880|0.27880	N|N	0.939726|0.939726	.|B;B;B	.|0.27416	.|0.178;0.002;0.001	.|B;B;B	.|0.30401	.|0.115;0.007;0.006	T|T	0.16276|0.16276	-1.0408|-1.0408	5|10	.|0.17369	.|T	.|0.5	-7.8689|-7.8689	5.1379|5.1379	0.14945|0.14945	0.0:0.613:0.2232:0.1638|0.0:0.613:0.2232:0.1638	.|.	.|86;72;72	.|Q32M96;P04085-2;P04085	.|.;.;PDGFA_HUMAN	P|N	79|72	.|ENSP00000383889:K72N;ENSP00000346508:K72N	.|ENSP00000346508:K72N	A|K	-|-	1|3	0|2	PDGFA|PDGFA	518563|518563	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.057000|0.057000	0.15508|0.15508	0.901000|0.901000	0.28445|0.28445	1.067000|1.067000	0.40740|0.40740	0.453000|0.453000	0.30009|0.30009	GCA|AAG		0.652	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			4	68	0	0	0	0.000602	0	4	68				
RAPGEF5	9771	broad.mit.edu	37	7	22259492	22259492	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:22259492G>A	ENST00000405243.1	-	9	1072	c.989C>T	c.(988-990)tCt>tTt	p.S330F	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000344041.6_Missense_Mutation_p.S177F			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S177F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACGTGTTCAGACTTCTCCTG	0.403																																							uc003svg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)TCT>TTT		Rap guanine nucleotide exchange factor (GEF) 5							130.0	125.0	126.0					7																	22259492		1853	4097	5950	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22259492G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.989C>T	7.37:g.22259492G>A	ENSP00000384870:p.Ser330Phe						p.S177F	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			9	843	-			Error:Variant_position_missing_in_Q92565_after_alignment					A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37	c.530C>T		.	.	.	.	.	.	.	.	.	.	G	13.91	2.378882	0.42207	.	.	ENSG00000136237	ENST00000344041;ENST00000420196;ENST00000405243	D;D;D	0.86164	-2.08;-2.08;-2.08	5.69	4.8	0.61643	.	40.877900	0.00166	N	0.000000	D	0.84229	0.5426	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.69120	-0.5229	10	0.87932	D	0	.	15.0856	0.72148	0.069:0.0:0.931:0.0	.	177	A8MQ07	.	F	177;58;330	ENSP00000343656:S177F;ENSP00000395729:S58F;ENSP00000384870:S330F	ENSP00000343656:S177F	S	-	2	0	RAPGEF5	22226017	0.882000	0.30256	0.953000	0.39169	0.974000	0.67602	4.281000	0.58965	1.382000	0.46385	0.561000	0.74099	TCT		0.403	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		6	71	0	0	0	0.001168	0	6	71				
AQP1	358	broad.mit.edu	37	7	30963178	30963178	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:30963178C>T	ENST00000311813.4	+	4	799	c.744C>T	c.(742-744)ggC>ggT	p.G248G	AQP1_ENST00000441328.2_Silent_p.G165G|AQP1_ENST00000434909.2_Silent_p.G308G|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Silent_p.G197G|AQP1_ENST00000509504.1_Silent_p.G425G|AQP1_ENST00000409899.1_Silent_p.G133G	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	248					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.G248G(1)|p.G165G(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GGACCAGCGGCCAGGTGGAGG	0.617																																							uc003tbv.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(742-744)GGC>GGT		aquaporin 1	Acetazolamide(DB00819)						51.0	43.0	45.0					7																	30963178		2203	4300	6503	SO:0001819	synonymous_variant	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30963178C>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.744C>T	7.37:g.30963178C>T						AQP1_uc011kac.1_Silent_p.G308G|AQP1_uc010kwf.1_Silent_p.G165G|AQP1_uc010kwg.1_Silent_p.G129G|AQP1_uc010kwh.1_Silent_p.G197G	p.G248G	NM_198098	NP_932766	P29972	AQP1_HUMAN			4	801	+		Melanoma(862;0.16)	248			Cytoplasmic.		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	c.744C>T	CCDS5431.1																																																																																				0.617	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		16	49	0	0	0	0.010504	0	16	49				
KIAA0895	23366	broad.mit.edu	37	7	36366473	36366473	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:36366473T>C	ENST00000297063.6	-	7	1509	c.1459A>G	c.(1459-1461)Agg>Ggg	p.R487G	KIAA0895_ENST00000317020.6_Missense_Mutation_p.R436G|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R484G|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R384G|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R474G|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R242G	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	487								p.R487G(1)|p.R474G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGGACCCTCATGTTTTCG	0.383																																							uc003tfd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1459-1461)AGG>GGG		hypothetical protein LOC23366 isoform 1							162.0	152.0	156.0					7																	36366473		1872	4096	5968	SO:0001583	missense	23366							g.chr7:36366473T>C	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1459A>G	7.37:g.36366473T>C	ENSP00000297063:p.Arg487Gly					KIAA0895_uc003tfc.2_Missense_Mutation_p.R474G|KIAA0895_uc011kaw.1_Missense_Mutation_p.R384G|KIAA0895_uc003tfb.2_Missense_Mutation_p.R436G|KIAA0895_uc011kax.1_Missense_Mutation_p.R484G	p.R487G	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			7	1510	-			487					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1459A>G	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124437	0.77436	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.5	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.997	T	0.78157	-0.2313	9	0.66056	D	0.02	-19.7014	13.3266	0.60463	0.0:0.0:0.4542:0.5458	.	484;384;487;474;436	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	G	487;474;436;484;384;242	.	ENSP00000297063:R487G	R	-	1	2	KIAA0895	36332998	0.727000	0.28069	0.999000	0.59377	0.969000	0.65631	1.121000	0.31283	0.416000	0.25844	0.533000	0.62120	AGG		0.383	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		4	163	0	0	0	0.009096	0	4	163				
SEC61G	23480	broad.mit.edu	37	7	54823477	54823477	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:54823477G>A	ENST00000415949.1	-	4	558	c.192C>T	c.(190-192)atC>atT	p.I64I	SEC61G_ENST00000450622.1_Silent_p.I64I|SEC61G_ENST00000352861.4_Silent_p.I64I|SEC61G_ENST00000395535.3_Silent_p.I64I			P60059	SC61G_HUMAN	Sec61 gamma subunit	64					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)	p.I64I(1)		kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTTACACAATGATGTTATTAA	0.333																																							uc003tqf.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(190-192)ATC>ATT		Sec61 gamma subunit							76.0	76.0	76.0					7																	54823477		2203	4299	6502	SO:0001819	synonymous_variant	23480				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:54823477G>A	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.192C>T	7.37:g.54823477G>A						SEC61G_uc003tqg.2_Silent_p.I64I	p.I64I	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		3	283	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		64			Extracellular (Potential).		B2R4J0|P38384|Q6IB25	Silent	SNP	ENST00000415949.1	37	c.192C>T	CCDS5513.1																																																																																				0.333	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		13	82	0	0	0	0.013537	0	13	82				
ZNF479	90827	broad.mit.edu	37	7	57188723	57188723	+	Silent	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:57188723A>T	ENST00000331162.4	-	5	669	c.399T>A	c.(397-399)ggT>ggA	p.G133G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G133G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCATATTCACCCACACTTT	0.338																																							uc010kzo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(397-399)GGT>GGA		zinc finger protein 479							117.0	107.0	110.0					7																	57188723		1864	4119	5983	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188723A>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.399T>A	7.37:g.57188723A>T							p.G133G	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	670	-			133						Silent	SNP	ENST00000331162.4	37	c.399T>A	CCDS43590.1																																																																																				0.338	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		46	91	0	0	0	0.01441	0	46	91				
ZNF92	168374	broad.mit.edu	37	7	64852924	64852924	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:64852924G>A	ENST00000328747.7	+	2	312	c.113G>A	c.(112-114)aGa>aAa	p.R38K	ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000357512.2_Missense_Mutation_p.R38K|ZNF92_ENST00000431504.1_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R38K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAACTACAGAAACCTGGTC	0.363																																							uc003ttz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGA>AAA		zinc finger protein 92 isoform 2							117.0	121.0	119.0					7																	64852924		2203	4300	6503	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64852924G>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.113G>A	7.37:g.64852924G>A	ENSP00000332595:p.Arg38Lys					ZNF92_uc003tua.2_Intron|ZNF92_uc010kzu.2_Missense_Mutation_p.R38K|ZNF92_uc003tub.2_Intron	p.R38K	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			2	256	+		Lung NSC(55;0.159)	38			KRAB.		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.113G>A	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304543	0.40795	.	.	ENSG00000146757	ENST00000328747;ENST00000357512	T;T	0.01871	4.59;4.59	0.593	-0.444	0.12245	Krueppel-associated box (4);	.	.	.	.	T	0.04092	0.0114	L	0.61387	1.9	0.21147	N	0.999779	P;P	0.39551	0.577;0.678	B;P	0.44696	0.331;0.458	T	0.33317	-0.9873	8	0.54805	T	0.06	.	.	.	.	.	38;38	Q03936-3;Q03936	.;ZNF92_HUMAN	K	38	ENSP00000332595:R38K;ENSP00000350113:R38K	ENSP00000332595:R38K	R	+	2	0	ZNF92	64490359	0.068000	0.21057	0.790000	0.31976	0.781000	0.44180	-0.331000	0.07914	-0.242000	0.09667	-0.237000	0.12165	AGA		0.363	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		6	176	0	0	0	0.001984	0	6	176				
AKAP9	10142	broad.mit.edu	37	7	91737903	91737903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:91737903C>T	ENST00000359028.2	+	49	11879	c.11654C>T	c.(11653-11655)aCt>aTt	p.T3885I	AKAP9_ENST00000356239.3_Missense_Mutation_p.T3881I|AKAP9_ENST00000358100.2_Missense_Mutation_p.T3831I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3885					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.T3885I(1)|p.T3881I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTATATCACTCGGCTAGAG	0.488			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(11641-11643)ACT>ATT		A-kinase anchor protein 9 isoform 2							93.0	85.0	88.0					7																	91737903		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91737903C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11654C>T	7.37:g.91737903C>T	ENSP00000351922:p.Thr3885Ile					AKAP9_uc003ulf.2_Missense_Mutation_p.T3873I|AKAP9_uc003uli.2_Missense_Mutation_p.T3504I|AKAP9_uc003ulj.2_Missense_Mutation_p.T1651I|AKAP9_uc003ull.2_Missense_Mutation_p.T777I	p.T3881I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		49	11867	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3885					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11642C>T		.	.	.	.	.	.	.	.	.	.	C	15.36	2.811351	0.50527	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000394534	T;T;T;T	0.03524	3.99;3.99;4.0;3.9	5.29	2.41	0.29592	.	0.000000	0.38720	N	0.001589	T	0.03263	0.0095	L	0.29908	0.895	0.30431	N	0.777169	P;B;B;B;B	0.51351	0.944;0.396;0.055;0.091;0.091	B;B;B;B;B	0.44044	0.439;0.105;0.018;0.039;0.039	T	0.25813	-1.0121	10	0.51188	T	0.08	.	5.1914	0.15212	0.2168:0.5923:0.1099:0.081	.	1156;3885;3885;3881;3873	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	I	3881;3885;3831;1727	ENSP00000348573:T3881I;ENSP00000351922:T3885I;ENSP00000350813:T3831I;ENSP00000378042:T1727I	ENSP00000348573:T3881I	T	+	2	0	AKAP9	91575839	0.790000	0.28787	1.000000	0.80357	0.973000	0.67179	1.477000	0.35431	1.467000	0.48044	0.655000	0.94253	ACT		0.488	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	97	0	0	0	0.010729	0	11	97				
PIK3CG	5294	broad.mit.edu	37	7	106508499	106508499	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:106508499G>A	ENST00000359195.3	+	2	803	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V165I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V165I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	165					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V165I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCACTGACGTCAGCAACGT	0.677																																							uc003vdv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(493-495)GTC>ATC		phosphoinositide-3-kinase, catalytic, gamma							26.0	30.0	29.0					7																	106508499		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508499G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.493G>A	7.37:g.106508499G>A	ENSP00000352121:p.Val165Ile					PIK3CG_uc003vdu.2_Missense_Mutation_p.V165I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V165I	p.V165I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	578	+			165					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.493G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013387	0.07912	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69806	-0.43;-0.43;-0.43	5.33	0.191	0.15130	.	0.300922	0.35495	N	0.003175	T	0.47673	0.1458	L	0.31926	0.97	0.40876	D	0.983954	B	0.09022	0.002	B	0.01281	0.0	T	0.17868	-1.0355	10	0.26408	T	0.33	-14.8927	6.8854	0.24197	0.3409:0.1146:0.5445:0.0	.	165	P48736	PK3CG_HUMAN	I	165	ENSP00000392258:V165I;ENSP00000419260:V165I;ENSP00000352121:V165I	ENSP00000352121:V165I	V	+	1	0	PIK3CG	106295735	0.997000	0.39634	0.973000	0.42090	0.934000	0.57294	1.890000	0.39728	0.039000	0.15632	0.467000	0.42956	GTC		0.677	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			6	26	0	0	0	0.001984	0	6	26				
DOCK4	9732	broad.mit.edu	37	7	111617307	111617307	+	Missense_Mutation	SNP	G	G	A	rs201242965		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:111617307G>A	ENST00000437633.1	-	8	837	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.P194L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	194					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.P194L(1)|p.P182L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGCCTGCACCGGGGTGTCTTT	0.498																																							uc003vfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(580-582)CCG>CTG		dedicator of cytokinesis 4		G	LEU/PRO	1,3919		0,1,1959	66.0	66.0	66.0		581	4.5	0.9	7		66	5,8313		0,5,4154	yes	missense	DOCK4	NM_014705.3	98	0,6,6113	AA,AG,GG		0.0601,0.0255,0.049	benign	194/1967	111617307	6,12232	1960	4159	6119	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617307G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.581C>T	7.37:g.111617307G>A	ENSP00000404179:p.Pro194Leu					DOCK4_uc003vfy.2_Missense_Mutation_p.P194L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.P194L|DOCK4_uc003vgb.1_Missense_Mutation_p.P118L	p.P194L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			8	850	-		Acute lymphoblastic leukemia(1;0.0441)	194					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.581C>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180448|3.180448	0.57800|0.57800	2.55E-4|2.55E-4	6.01E-4|6.01E-4	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03212|.	4.01;4.01|.	5.43|5.43	4.54|4.54	0.55810|0.55810	.|.	0.051090|.	0.85682|.	D|.	0.000000|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P;B;B|.	0.39311|.	0.667;0.667;0.452;0.452|.	B;B;B;B|.	0.32928|.	0.155;0.075;0.107;0.107|.	T|T	0.55742|0.55742	-0.8093|-0.8093	10|5	0.26408|.	T|.	0.33|.	.|.	13.5785|13.5785	0.61888|0.61888	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	194;194;194;194|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	L|W	182;194;194;182;193|182	ENSP00000410746:P194L;ENSP00000404179:P194L|.	ENSP00000345432:P182L|.	P|R	-|-	2|1	0|2	DOCK4|DOCK4	111404543|111404543	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.791000|0.791000	0.44710|0.44710	7.651000|7.651000	0.83577|0.83577	2.527000|2.527000	0.85204|0.85204	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.498	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	15	0	0	0	0.009096	0	4	15				
DOCK4	9732	broad.mit.edu	37	7	111634226	111634226	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:111634226T>C	ENST00000437633.1	-	5	535	c.279A>G	c.(277-279)ttA>ttG	p.L93L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.L93L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	93					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.L93L(1)|p.L81L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCCAGTCTCTTAATGTTGATG	0.313																																							uc003vfx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(277-279)TTA>TTG		dedicator of cytokinesis 4							151.0	143.0	146.0					7																	111634226		1827	4082	5909	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111634226T>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.279A>G	7.37:g.111634226T>C						DOCK4_uc003vfy.2_Silent_p.L93L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L93L|DOCK4_uc003vgb.1_Silent_p.L17L	p.L93L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			5	548	-		Acute lymphoblastic leukemia(1;0.0441)	93					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.279A>G	CCDS47688.1																																																																																				0.313	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		15	56	0	0	0	0.004007	0	15	56				
KCND2	3751	broad.mit.edu	37	7	119915637	119915637	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:119915637G>A	ENST00000331113.4	+	1	1916	c.951G>A	c.(949-951)ctG>ctA	p.L317L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	317					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L317L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGTACACACTGAAGAGTTGTG	0.522																																							uc003vjj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(949-951)CTG>CTA		potassium voltage-gated channel, Shal-related							131.0	101.0	111.0					7																	119915637		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915637G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.951G>A	7.37:g.119915637G>A							p.L317L	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1916	+	all_neural(327;0.117)		317			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.951G>A	CCDS5776.1																																																																																				0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		11	104	0	0	0	0.001855	0	11	104				
GRM8	2918	broad.mit.edu	37	7	126173585	126173585	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:126173585T>C	ENST00000339582.2	-	9	2659	c.1851A>G	c.(1849-1851)tcA>tcG	p.S617S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.S617S|GRM8_ENST00000358373.3_Silent_p.S617S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	617					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S617S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTTCGCGTCCTGAAGCCCTCA	0.453										HNSCC(24;0.065)																													uc003vlr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1849-1851)TCA>TCG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						119.0	114.0	116.0					7																	126173585		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173585T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1851A>G	7.37:g.126173585T>C		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S617S|GRM8_uc010lkz.1_RNA	p.S617S	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2162	-		Prostate(267;0.186)	617			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1851A>G	CCDS5794.1																																																																																				0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			3	63	0	0	0	0.000602	0	3	63				
CCDC136	64753	broad.mit.edu	37	7	128457828	128457828	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:128457828A>G	ENST00000297788.4	+	17	3747	c.3380A>G	c.(3379-3381)aAt>aGt	p.N1127S	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Missense_Mutation_p.N407S|CCDC136_ENST00000464832.1_Missense_Mutation_p.N419S|CCDC136_ENST00000487361.1_Missense_Mutation_p.N488S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.N1243S(1)|p.N1127S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTACCCCCAATCCCCCCATC	0.517																																							uc003vnv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3379-3381)AAT>AGT		coiled-coil domain containing 136							281.0	276.0	277.0					7																	128457828		2095	4212	6307	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128457828A>G		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3380A>G	7.37:g.128457828A>G	ENSP00000297788:p.Asn1127Ser					CCDC136_uc003vnu.1_Missense_Mutation_p.N407S|CCDC136_uc003vnw.1_Missense_Mutation_p.N488S|CCDC136_uc003vnx.1_Intron|CCDC136_uc010llq.1_Intron|CCDC136_uc003vny.1_Intron	p.N1127S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			17	3747	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.3380A>G	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589112	0.46110	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788	T;T;T;T	0.43294	0.96;0.98;0.95;1.58	4.98	4.98	0.66077	.	0.627822	0.15491	N	0.259575	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	0.999992	B;B;B	0.12630	0.004;0.006;0.002	B;B;B	0.16289	0.003;0.015;0.003	T	0.19976	-1.0289	10	0.56958	D	0.05	.	11.3411	0.49533	1.0:0.0:0.0:0.0	.	488;1127;407	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	S	407;419;488;1127	ENSP00000367956:N407S;ENSP00000419515:N419S;ENSP00000420509:N488S;ENSP00000297788:N1127S	ENSP00000297788:N1127S	N	+	2	0	CCDC136	128245064	0.975000	0.34042	0.602000	0.28890	0.973000	0.67179	3.134000	0.50538	1.991000	0.58162	0.379000	0.24179	AAT		0.517	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		62	273	0	0	0	0.01441	0	62	273				
KLHDC10	23008	broad.mit.edu	37	7	129736765	129736765	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:129736765G>C	ENST00000335420.5	+	2	305	c.171G>C	c.(169-171)aaG>aaC	p.K57N		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K57N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TAACAGGTAAGAAGAAAATAC	0.383																																							uc003vpj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)AAG>AAC		kelch domain containing 10							136.0	139.0	138.0					7																	129736765		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129736765G>C		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.171G>C	7.37:g.129736765G>C	ENSP00000334140:p.Lys57Asn					KLHDC10_uc003vpk.1_Intron|KLHDC10_uc010lmb.1_Intron	p.K57N	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			2	306	+			57					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.171G>C	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253063	0.80135	.	.	ENSG00000128607	ENST00000335420	T	0.06294	3.32	4.87	4.87	0.63330	.	0.391386	0.27876	N	0.017492	T	0.05686	0.0149	N	0.24115	0.695	0.58432	D	0.999997	B	0.27498	0.18	B	0.27170	0.077	T	0.48703	-0.9012	10	0.20519	T	0.43	-10.2928	15.8749	0.79154	0.0:0.0:1.0:0.0	.	57	Q6PID8	KLD10_HUMAN	N	57	ENSP00000334140:K57N	ENSP00000334140:K57N	K	+	3	2	KLHDC10	129524001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.120000	0.71596	2.693000	0.91896	0.491000	0.48974	AAG		0.383	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			4	42	0	0	0	0.000602	0	4	42				
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358|rs397516890|rs121913355		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)GGA>GTA		B-Raf	Sorafenib(DB00398)						174.0	149.0	158.0					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>T	7.37:g.140481402C>A	ENSP00000288602:p.Gly469Val						p.G469V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1467	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.806444|4.806444	0.90623|0.90623	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.90261	.|-2.64	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96929	.|0.8997	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.97854	.|1.0276	.|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	X|V	77|469	.|ENSP00000288602:G469V	.|ENSP00000288602:G469V	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		56	108	1	0	2.32099e-22	0.01441	2.82796e-22	56	108				
ESYT2	57488	broad.mit.edu	37	7	158555808	158555808	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:158555808C>T	ENST00000251527.5	-	10	1359	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	460	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.D432N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGGTCTTCATCAAAGAGCTCA	0.358																																							uc003wob.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(1294-1296)GAT>AAT		family with sequence similarity 62 (C2 domain							102.0	93.0	96.0					7																	158555808		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158555808C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1294G>A	7.37:g.158555808C>T	ENSP00000251527:p.Asp432Asn					ESYT2_uc003woc.1_Missense_Mutation_p.D256N|ESYT2_uc003wod.1_Missense_Mutation_p.D432N|ESYT2_uc003woa.1_5'UTR	p.D432N	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			10	1360	-			460			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1294G>A	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895733	0.91962	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.16897	2.31;2.31	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.62501	-0.6841	10	0.87932	D	0	-20.0867	17.6904	0.88267	0.0:1.0:0.0:0.0	.	460;432	A0FGR8-6;A0FGR8-2	.;.	N	432;460;402;256	ENSP00000251527:D432N;ENSP00000275418:D402N	ENSP00000251527:D432N	D	-	1	0	ESYT2	158248569	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.654000	0.83653	2.398000	0.81561	0.563000	0.77884	GAT		0.358	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		9	39	0	0	0	0.013537	0	9	39				
INTS9	55756	broad.mit.edu	37	8	28654152	28654152	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:28654152G>C	ENST00000521022.1	-	9	846	c.765C>G	c.(763-765)ctC>ctG	p.L255L	RP11-662B19.2_ENST00000520055.1_RNA|INTS9_ENST00000416984.2_Silent_p.L234L|INTS9_ENST00000397363.4_Silent_p.L149L|INTS9_ENST00000521777.1_Silent_p.L231L	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	255					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.L255L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGCTGTTTTTGAGAGAAGCTT	0.433																																							uc003xha.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(763-765)CTC>CTG		integrator complex subunit 9 isoform 1							130.0	116.0	121.0					8																	28654152		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28654152G>C	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.765C>G	8.37:g.28654152G>C						INTS9_uc011lav.1_Silent_p.L231L|INTS9_uc011law.1_Silent_p.L234L|INTS9_uc011lax.1_Silent_p.L148L|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.L255L	p.L255L	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	9	1064	-		Ovarian(32;0.0439)	255					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.765C>G	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	7.296	0.612140	0.14066	.	.	ENSG00000104299	ENST00000524081	.	.	.	5.39	2.35	0.29111	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-26.7139	4.4875	0.11797	0.0835:0.2855:0.4843:0.1468	.	.	.	.	E	218	.	.	Q	-	1	0	INTS9	28710071	0.379000	0.25123	1.000000	0.80357	0.989000	0.77384	-0.294000	0.08309	0.599000	0.29845	0.591000	0.81541	CAA		0.433	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		25	34	0	0	0	0.00333	0	25	34				
WRN	7486	broad.mit.edu	37	8	30924661	30924661	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:30924661C>T	ENST00000298139.5	+	6	866	c.617C>T	c.(616-618)aCt>aTt	p.T206I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	206	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.T206I(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTCCTCTCACTGAGGACCAG	0.383			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(616-618)ACT>ATT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							81.0	72.0	75.0					8																	30924661		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924661C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.617C>T	8.37:g.30924661C>T	ENSP00000298139:p.Thr206Ile						p.T206I	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	1405	+		Breast(100;0.195)	206			Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.617C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459703	0.63401	.	.	ENSG00000165392	ENST00000298139	T	0.67698	-0.28	5.68	2.73	0.32206	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.627477	0.15916	N	0.238399	D	0.84133	0.5405	M	0.92604	3.325	0.30856	N	0.734098	D	0.71674	0.998	D	0.68621	0.959	D	0.83512	0.0081	10	0.72032	D	0.01	-11.2729	12.5558	0.56252	0.1234:0.3956:0.481:0.0	.	206	Q14191	WRN_HUMAN	I	206	ENSP00000298139:T206I	ENSP00000298139:T206I	T	+	2	0	WRN	31044203	0.015000	0.18098	0.995000	0.50966	0.972000	0.66771	0.104000	0.15313	0.260000	0.21731	0.561000	0.74099	ACT		0.383	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	49	0	0	0	0.001984	0	6	49				
UNC5D	137970	broad.mit.edu	37	8	35584047	35584047	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:35584047G>A	ENST00000404895.2	+	10	2009	c.1681G>A	c.(1681-1683)Ggg>Agg	p.G561R	UNC5D_ENST00000449677.1_Splice_Site_p.G137R|UNC5D_ENST00000287272.2_Splice_Site_p.G492R|UNC5D_ENST00000453357.2_Splice_Site_p.G556R|UNC5D_ENST00000416672.1_Splice_Site_p.G566R|UNC5D_ENST00000420357.1_Splice_Site_p.G494R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	561	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G556R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCAAATACAGGTGGGTGGTA	0.418																																							uc003xjr.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1681-1683)GGG>AGG		unc-5 homolog D precursor							152.0	155.0	154.0					8																	35584047		2203	4300	6503	SO:0001630	splice_region_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35584047G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1681+1G>A	8.37:g.35584047G>A						UNC5D_uc003xjs.1_Missense_Mutation_p.G556R|UNC5D_uc003xju.1_Missense_Mutation_p.G137R|UNC5D_uc003xjt.1_Missense_Mutation_p.G319S	p.G561R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	2009	+			561			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1681G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773440	0.90108	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.71	5.71	0.89125	ZU5 (2);	0.044866	0.85682	D	0.000000	T	0.80336	0.4604	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82598	-0.0378	10	0.87932	D	0	-24.0227	19.8493	0.96733	0.0:0.0:1.0:0.0	.	137;556;561	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	R	561;494;492;566;556;137	ENSP00000385143:G561R;ENSP00000392739:G494R;ENSP00000287272:G492R;ENSP00000412652:G566R;ENSP00000394303:G556R;ENSP00000397211:G137R	ENSP00000287272:G492R	G	+	1	0	UNC5D	35703589	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.922000	0.92789	2.701000	0.92244	0.563000	0.77884	GGG		0.418	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		Missense_Mutation	7	297	0	0	0	0.00308	0	7	297				
POMK	84197	broad.mit.edu	37	8	42977285	42977285	+	Silent	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:42977285A>G	ENST00000331373.5	+	5	573	c.318A>G	c.(316-318)gcA>gcG	p.A106A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)	p.A106A(2)									ACAAAGTTGCACTCTCACAGC	0.483																																							uc003xpw.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(316-318)GCA>GCG		protein kinase-like protein SgK196							121.0	112.0	115.0					8																	42977285		2203	4300	6503	SO:0001819	synonymous_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977285A>G		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.318A>G	8.37:g.42977285A>G							p.A106A	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			5	577	+			106			Protein kinase.			Silent	SNP	ENST00000331373.5	37	c.318A>G	CCDS6141.1																																																																																				0.483	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		345	148	0	0	0	0.01441	0	345	148				
ARFGEF1	10565	broad.mit.edu	37	8	68112721	68112721	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:68112721G>A	ENST00000262215.3	-	38	5684	c.5295C>T	c.(5293-5295)ttC>ttT	p.F1765F	ARFGEF1_ENST00000518230.1_Silent_p.F603F|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.F1219F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1765					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.F1765F(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGAGTGAGGAAGTAACTTA	0.378																																							uc003xxo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(5293-5295)TTC>TTT		brefeldin A-inhibited guanine							131.0	128.0	129.0					8																	68112721		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68112721G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5295C>T	8.37:g.68112721G>A						ARFGEF1_uc003xxl.1_Silent_p.F1219F|ARFGEF1_uc003xxm.1_Silent_p.F168F|ARFGEF1_uc003xxn.1_Silent_p.F710F|ARFGEF1_uc003xxp.1_Silent_p.F27F	p.F1765F	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		38	5685	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1765					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.5295C>T	CCDS6199.1																																																																																				0.378	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		5	173	0	0	0	0.000602	0	5	173				
DCAF4L2	138009	broad.mit.edu	37	8	88886032	88886032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:88886032C>G	ENST00000319675.3	-	1	264	c.168G>C	c.(166-168)agG>agC	p.R56S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56								p.R56S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGACCTTTTTCCTCTGCATGC	0.502																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)AGG>AGC		WD repeat domain 21C							123.0	112.0	116.0					8																	88886032		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886032C>G	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.168G>C	8.37:g.88886032C>G	ENSP00000316496:p.Arg56Ser						p.R56S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	265	-			56						Missense_Mutation	SNP	ENST00000319675.3	37	c.168G>C	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971018	0.34754	.	.	ENSG00000176566	ENST00000319675	T	0.71222	-0.55	1.92	-0.444	0.12245	WD40 repeat-like-containing domain (1);	0.043517	0.85682	D	0.000000	T	0.72566	0.3476	M	0.71581	2.175	0.09310	N	1	D	0.58620	0.983	P	0.58970	0.849	T	0.61426	-0.7065	10	0.33940	T	0.23	.	3.6458	0.08184	0.0:0.5415:0.2624:0.196	.	56	Q8NA75	DC4L2_HUMAN	S	56	ENSP00000316496:R56S	ENSP00000316496:R56S	R	-	3	2	DCAF4L2	88955148	0.999000	0.42202	0.006000	0.13384	0.025000	0.11179	0.075000	0.14686	-0.090000	0.12462	-0.499000	0.04595	AGG		0.502	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		45	110	0	0	0	0.010771	0	45	110				
KIAA1429	25962	broad.mit.edu	37	8	95521993	95521993	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:95521993G>A	ENST00000297591.5	-	15	3877	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1268W|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1268					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1268W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCAGGAGACCGCACCAAAGCT	0.353																																							uc003ygo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3802-3804)CGG>TGG		hypothetical protein LOC25962 isoform 1							94.0	93.0	94.0					8																	95521993		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95521993G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3802C>T	8.37:g.95521993G>A	ENSP00000297591:p.Arg1268Trp					KIAA1429_uc010maz.1_RNA	p.R1268W	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3815	-	Breast(36;3.29e-05)		1268					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3802C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795930	0.50208	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.68479	0.88;-0.33	5.31	5.31	0.75309	.	0.362537	0.29846	N	0.011060	T	0.64349	0.2590	N	0.22421	0.69	0.37481	D	0.916018	D	0.67145	0.996	P	0.53549	0.729	T	0.71151	-0.4676	10	0.62326	D	0.03	-8.1568	14.2195	0.65818	0.0:0.0:0.8506:0.1493	.	1268	Q69YN4	VIR_HUMAN	W	1268	ENSP00000297591:R1268W;ENSP00000395600:R1268W	ENSP00000297591:R1268W	R	-	1	2	KIAA1429	95591169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.548000	0.45794	2.647000	0.89833	0.561000	0.74099	CGG		0.353	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		5	97	0	0	0	0.000602	0	5	97				
KCNS2	3788	broad.mit.edu	37	8	99440859	99440859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:99440859C>A	ENST00000287042.4	+	2	1002	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	KCNS2_ENST00000521839.1_Missense_Mutation_p.Q218K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	218					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)	p.Q218K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCTGACAGCCAGGGCAACCC	0.572																																					Pancreas(138;844 2489 9202 24627)	Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(652-654)CAG>AAG		potassium voltage-gated channel,							90.0	92.0	92.0					8																	99440859		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440859C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.652C>A	8.37:g.99440859C>A	ENSP00000287042:p.Gln218Lys						p.Q218K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1002	+	Breast(36;2.4e-06)		218			Extracellular (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.652C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127414	0.06753	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96200	-3.94;-3.94	5.94	5.94	0.96194	.	0.359519	0.29126	N	0.013071	D	0.84924	0.5580	N	0.02539	-0.55	0.34773	D	0.733928	B	0.02656	0.0	B	0.01281	0.0	T	0.80562	-0.1327	10	0.05351	T	0.99	.	13.2698	0.60153	0.2605:0.7395:0.0:0.0	.	218	Q9ULS6	KCNS2_HUMAN	K	218	ENSP00000287042:Q218K;ENSP00000430712:Q218K	ENSP00000287042:Q218K	Q	+	1	0	KCNS2	99510035	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.489000	0.53237	2.816000	0.96949	0.563000	0.77884	CAG		0.572	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		52	99	1	0	1.10885e-35	0.01441	1.37451e-35	52	99				
RGS22	26166	broad.mit.edu	37	8	101105679	101105679	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:101105679A>C	ENST00000360863.6	-	3	307	c.113T>G	c.(112-114)cTt>cGt	p.L38R	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L38R	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	38					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.L38R(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTCACTGGAAGGCTTAGGAA	0.279																																							uc003yjb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(112-114)CTT>CGT		regulator of G-protein signaling 22							48.0	49.0	49.0					8																	101105679		1784	4046	5830	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101105679A>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.113T>G	8.37:g.101105679A>C	ENSP00000354109:p.Leu38Arg					RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.L38R|RGS22_uc010mbo.1_RNA	p.L38R	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		3	308	-			38					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.113T>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959287	0.74016	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000517828;ENST00000520117	T;T;T	0.66638	-0.22;-0.22;1.5	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000003	T	0.80768	0.4686	M	0.74258	2.255	0.36669	D	0.878394	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.85809	0.1378	10	0.72032	D	0.01	.	13.3195	0.60424	1.0:0.0:0.0:0.0	.	38;38	A8K944;Q8NE09	.;RGS22_HUMAN	R	38;38;38;36;31	ENSP00000354109:L38R;ENSP00000428212:L38R;ENSP00000427754:L36R	ENSP00000354109:L38R	L	-	2	0	RGS22	101174855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.332000	0.65911	2.189000	0.69895	0.460000	0.39030	CTT		0.279	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		14	30	0	0	0	0.004007	0	14	30				
SNX31	169166	broad.mit.edu	37	8	101608886	101608886	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:101608886C>G	ENST00000311812.2	-	10	1109	c.959G>C	c.(958-960)tGc>tCc	p.C320S	SNX31_ENST00000428383.2_Missense_Mutation_p.C221S|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	320					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.C320S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GACCTGCCAGCACTTCACCCT	0.493																																							uc003yjr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)TGC>TCC		sorting nexin 31							107.0	102.0	104.0					8																	101608886		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101608886C>G		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.959G>C	8.37:g.101608886C>G	ENSP00000312368:p.Cys320Ser					SNX31_uc011lha.1_Missense_Mutation_p.C115S|SNX31_uc011lhb.1_Missense_Mutation_p.C221S	p.C320S	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		10	1110	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		320					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.959G>C	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344825	0.24426	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.26067	2.18;1.76	4.25	2.27	0.28462	.	0.172845	0.38663	N	0.001606	T	0.20088	0.0483	L	0.35854	1.095	0.41763	D	0.989725	B;B	0.14438	0.01;0.003	B;B	0.12156	0.007;0.003	T	0.07578	-1.0765	10	0.30854	T	0.27	-10.0363	13.6215	0.62140	0.0:0.7058:0.2942:0.0	.	221;320	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	S	320;221	ENSP00000312368:C320S;ENSP00000405024:C221S	ENSP00000312368:C320S	C	-	2	0	SNX31	101678062	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.591000	0.36665	1.114000	0.41781	0.563000	0.77884	TGC		0.493	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		56	87	0	0	0	0.01441	0	56	87				
ZNF16	7564	broad.mit.edu	37	8	146156370	146156370	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:146156370G>A	ENST00000276816.4	-	4	1989	c.1803C>T	c.(1801-1803)taC>taT	p.Y601Y	ZNF16_ENST00000394909.2_Silent_p.Y601Y	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	601					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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)	p.Y601Y(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAACACAGGTGTAGGGTTTTT	0.498																																							uc003zet.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1801-1803)TAC>TAT		zinc finger protein 16							104.0	95.0	98.0					8																	146156370		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156370G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1803C>T	8.37:g.146156370G>A						ZNF16_uc003zeu.2_Silent_p.Y601Y	p.Y601Y	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1990	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	601			C2H2-type 15.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.1803C>T	CCDS6437.1																																																																																				0.498	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		34	82	0	0	0	0.00623	0	34	82				
PTPRD	5789	broad.mit.edu	37	9	8465635	8465635	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:8465635T>A	ENST00000381196.4	-	29	4088	c.3545A>T	c.(3544-3546)tAt>tTt	p.Y1182F	PTPRD_ENST00000397617.3_Missense_Mutation_p.Y761F|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y768F|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1182F|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y771F|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1169F|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1182F|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y761F|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y768F|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y771F|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1160F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1182		Cleavage. {ECO:0000305}.			heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y1182F(2)|p.Y653F(1)|p.Y771F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTCTCCCATAACGGATGCT	0.408										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3544-3546)TAT>TTT		protein tyrosine phosphatase, receptor type, D							123.0	117.0	119.0					9																	8465635		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465635T>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3545A>T	9.37:g.8465635T>A	ENSP00000370593:p.Tyr1182Phe	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkq.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkr.2_Missense_Mutation_p.Y766F|PTPRD_uc003zks.2_Missense_Mutation_p.Y761F|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1173F|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1169F|PTPRD_uc003zkn.2_Missense_Mutation_p.Y771F|PTPRD_uc003zko.2_Missense_Mutation_p.Y768F	p.Y1182F	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4256	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1182			Extracellular (Potential).	Cleavage (Probable).	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3545A>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.988101	0.35036	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.7;0.7;0.74;0.79;0.86;0.97;0.74;0.64;0.7;0.86;0.97	5.5	4.28	0.50868	.	0.156761	0.56097	D	0.000027	T	0.16300	0.0392	N	0.00926	-1.1	0.49213	D	0.999767	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.08055	0.001;0.0;0.0;0.0;0.003;0.001;0.0;0.0;0.0	T	0.14559	-1.0468	9	.	.	.	.	8.9513	0.35790	0.3233:0.0:0.0:0.6767	.	761;766;771;771;768;768;1169;1182;1182	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1182;1182;1169;1160;771;761;768;768;653;1182;771;761	ENSP00000370593:Y1182F;ENSP00000348812:Y1182F;ENSP00000353187:Y1169F;ENSP00000351293:Y1160F;ENSP00000347373:Y771F;ENSP00000380741:Y761F;ENSP00000380735:Y768F;ENSP00000440515:Y768F;ENSP00000438164:Y1182F;ENSP00000417093:Y771F;ENSP00000380731:Y761F	.	Y	-	2	0	PTPRD	8455635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.414000	0.73318	2.217000	0.71921	0.528000	0.53228	TAT		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			12	38	0	0	0	0.00245	0	12	38				
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:34339067C>G	ENST00000379158.2	+	4	388	c.30C>G	c.(28-30)atC>atG	p.I10M	NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M|NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	10	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)	p.I10M(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428																																					Melanoma(95;1683 1957 4276 39813)	Melanoma(95;1683 1957 4276 39813)	uc003zub.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(28-30)ATC>ATG		nudix-type motif 2							162.0	143.0	149.0					9																	34339067		2203	4300	6503	SO:0001583	missense	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34339067C>G	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.30C>G	9.37:g.34339067C>G	ENSP00000368455:p.Ile10Met					NUDT2_uc003zuc.2_Missense_Mutation_p.I10M|NUDT2_uc003zud.2_Missense_Mutation_p.I10M	p.I10M	NM_001161	NP_001152	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	4	388	+			10			Nudix hydrolase.		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	c.30C>G	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558734	0.65538	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	.	.	.	5.7	4.62	0.57501	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.101452	0.64402	D	0.000002	T	0.74160	0.3680	M	0.68952	2.095	0.80722	D	1	P	0.47106	0.89	D	0.67900	0.954	T	0.73547	-0.3948	9	0.49607	T	0.09	-4.7431	10.3829	0.44123	0.1364:0.7856:0.0:0.078	.	10	P50583	AP4A_HUMAN	M	10	.	ENSP00000338397:I10M	I	+	3	3	NUDT2	34329067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.006000	0.29847	2.692000	0.91855	0.655000	0.94253	ATC		0.428	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		27	145	0	0	0	0.00632	0	27	145				
TESK1	7016	broad.mit.edu	37	9	35607349	35607349	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:35607349G>C	ENST00000336395.5	+	5	813	c.563G>C	c.(562-564)cGa>cCa	p.R188P	TESK1_ENST00000498522.1_Intron|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R188P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGAAGATCGAGGCTTCACC	0.537																																							uc003zxa.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(562-564)CGA>CCA		testis-specific protein kinase 1							153.0	130.0	138.0					9																	35607349		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35607349G>C	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.563G>C	9.37:g.35607349G>C	ENSP00000338127:p.Arg188Pro					TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	p.R188P	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	899	+			188			Protein kinase.		Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.563G>C	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603221	0.28534	.	.	ENSG00000107140	ENST00000336395	T	0.34472	1.36	5.48	-4.41	0.03590	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.461870	0.04637	N	0.404706	T	0.40372	0.1114	L	0.41961	1.31	0.09310	N	1	B	0.31680	0.335	B	0.41646	0.362	T	0.52260	-0.8599	10	0.45353	T	0.12	7.017	15.2386	0.73450	0.7173:0.0:0.2827:0.0	.	188	Q15569	TESK1_HUMAN	P	188	ENSP00000338127:R188P	ENSP00000338127:R188P	R	+	2	0	TESK1	35597349	0.000000	0.05858	0.281000	0.24762	0.935000	0.57460	-0.136000	0.10405	-1.169000	0.02772	-0.291000	0.09656	CGA		0.537	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		9	162	0	0	0	0.004482	0	9	162				
SHC3	53358	broad.mit.edu	37	9	91660680	91660680	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:91660680C>A	ENST00000375835.4	-	9	1488	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	394	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.Q394H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AAGGTGTTTGCTGCCAGTCTT	0.423																																							uc004aqg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|skin(1)	4						c.(1180-1182)CAG>CAT		src homology 2 domain-containing transforming							160.0	139.0	146.0					9																	91660680		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91660680C>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1182G>T	9.37:g.91660680C>A	ENSP00000364995:p.Gln394His						p.Q394H	NM_016848	NP_058544	Q92529	SHC3_HUMAN			9	1489	-			394			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1182G>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	5.190	0.220581	0.09863	.	.	ENSG00000148082	ENST00000375835	T	0.28666	1.6	5.25	2.08	0.27032	.	1.086640	0.06873	N	0.801134	T	0.28433	0.0703	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13415	-1.0510	10	0.44086	T	0.13	-33.8401	6.7163	0.23304	0.2012:0.6211:0.0:0.1778	.	394	Q92529	SHC3_HUMAN	H	394	ENSP00000364995:Q394H	ENSP00000364995:Q394H	Q	-	3	2	SHC3	90850500	0.997000	0.39634	0.753000	0.31225	0.211000	0.24417	0.653000	0.24902	0.754000	0.32968	0.557000	0.71058	CAG		0.423	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		15	79	1	0	2.32078e-09	0.003163	2.56508e-09	15	79				
C9orf3	84909	broad.mit.edu	37	9	97555120	97555120	+	Missense_Mutation	SNP	G	G	C	rs200376547		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:97555120G>C	ENST00000375315.2	+	3	1038	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C	C9orf3_ENST00000297979.5_Missense_Mutation_p.W346C|C9orf3_ENST00000277198.2_Missense_Mutation_p.W346C	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	346					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W346C(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGGATGCTGGACAGAAATGA	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19556	0.0		0.0	False		,,,				2504	0.0						uc004ava.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1036-1038)TGG>TGC		aminopeptidase O							207.0	205.0	206.0					9																	97555120		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97555120G>C	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1038G>C	9.37:g.97555120G>C	ENSP00000364464:p.Trp346Cys					C9orf3_uc004aux.1_Missense_Mutation_p.W346C|C9orf3_uc004auy.2_Missense_Mutation_p.W346C|C9orf3_uc004auz.1_Missense_Mutation_p.W346C	p.W346C	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	3	1173	+			346					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1038G>C	CCDS55328.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.39	3.376664	0.61735	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	4.46	4.46	0.54185	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.00749	-1.1582	10	0.72032	D	0.01	-7.7566	17.6453	0.88147	0.0:0.0:1.0:0.0	.	346;346;346;346	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	C	346;346;346;169;128	ENSP00000277198:W346C;ENSP00000297979:W346C;ENSP00000364464:W346C;ENSP00000402171:W169C;ENSP00000401854:W128C	ENSP00000277198:W346C	W	+	3	0	C9orf3	96594941	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.997000	0.88414	2.454000	0.82982	0.557000	0.71058	TGG		0.453	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		26	319	0	0	0	0.004656	0	26	319				
ZNF782	158431	broad.mit.edu	37	9	99581987	99581987	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:99581987G>A	ENST00000481138.1	-	6	979	c.318C>T	c.(316-318)ttC>ttT	p.F106F	ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	106					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)	p.F106F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTTATTGGTGAATAAAACTT	0.328																																							uc004awp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)TTC>TTT		zinc finger protein 782							68.0	70.0	69.0					9																	99581987		2203	4300	6503	SO:0001819	synonymous_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581987G>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.318C>T	9.37:g.99581987G>A						ZNF782_uc011lup.1_5'UTR	p.F106F	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	599	-		Acute lymphoblastic leukemia(62;0.0527)	106					B2RNR0	Silent	SNP	ENST00000481138.1	37	c.318C>T	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762904	0.15914	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.38	-0.786	0.10946	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	.	4.1005	0.10012	0.3038:0.0:0.5324:0.1638	.	.	.	.	Y	95	.	.	H	-	1	0	ZNF782	98621808	0.047000	0.20315	0.273000	0.24645	0.948000	0.59901	0.690000	0.25451	-0.148000	0.11234	0.650000	0.86243	CAC		0.328	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		5	34	0	0	0	0.000602	0	5	34				
ZBTB34	403341	broad.mit.edu	37	9	129642401	129642401	+	Missense_Mutation	SNP	G	G	C	rs373930697		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:129642401G>C	ENST00000373452.2	+	1	775	c.711G>C	c.(709-711)aaG>aaC	p.K237N	ZBTB34_ENST00000319119.4_Missense_Mutation_p.K241N			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K241N(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TGAAAGTGAAGATGGAGAAGT	0.547																																							uc004bqm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(709-711)AAG>AAC		zinc finger and BTB domain containing 34							104.0	112.0	109.0					9																	129642401		2039	4171	6210	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642401G>C	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.711G>C	9.37:g.129642401G>C	ENSP00000362551:p.Lys237Asn						p.K237N	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	808	+			237					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.711G>C	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244629	0.59103	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.13657	2.57;2.59	5.38	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.27053	0.805	0.51012	D	0.999908	D	0.71674	0.998	D	0.73708	0.981	T	0.01010	-1.1482	10	0.35671	T	0.21	.	6.757	0.23520	0.2549:0.0:0.7451:0.0	.	237	Q8NCN2	ZBT34_HUMAN	N	241;237	ENSP00000317534:K241N;ENSP00000362551:K237N	ENSP00000317534:K241N	K	+	3	2	ZBTB34	128682222	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.838000	0.48199	2.675000	0.91044	0.655000	0.94253	AAG		0.547	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		10	127	0	0	0	0.008291	0	10	127				
ODF2	4957	broad.mit.edu	37	9	131262373	131262373	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:131262373C>A	ENST00000434106.3	+	21	2692	c.2329C>A	c.(2329-2331)Caa>Aaa	p.Q777K	ODF2_ENST00000604420.1_Missense_Mutation_p.Q777K|ODF2_ENST00000351030.3_Missense_Mutation_p.Q772K|ODF2_ENST00000393527.3_Missense_Mutation_p.Q753K|ODF2_ENST00000444119.2_Missense_Mutation_p.Q753K|ODF2_ENST00000372807.5_Missense_Mutation_p.Q772K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	777					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.Q777K(1)|p.Q753K(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAGCCGGCTGCAAGACCTGAA	0.547																																							uc011mbd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2329-2331)CAA>AAA		outer dense fiber of sperm tails 2 isoform 1							126.0	111.0	116.0					9																	131262373		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131262373C>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2329C>A	9.37:g.131262373C>A	ENSP00000403453:p.Gln777Lys					ODF2_uc004bvb.2_Missense_Mutation_p.Q753K|ODF2_uc011mbe.1_Missense_Mutation_p.Q772K|ODF2_uc004bvc.2_Missense_Mutation_p.Q753K|ODF2_uc004bvd.3_Missense_Mutation_p.Q777K|ODF2_uc004bvh.2_Missense_Mutation_p.Q183K	p.Q777K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			21	2640	+			777			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2329C>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613689	0.87359	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.21734	2.01;2.0;1.99	5.34	5.34	0.76211	.	0.069383	0.56097	D	0.000022	T	0.17619	0.0423	N	0.25426	0.745	0.80722	D	1	P;P;P;P	0.45283	0.48;0.855;0.48;0.48	B;P;B;B	0.44772	0.143;0.46;0.143;0.143	T	0.01504	-1.1338	10	0.02654	T	1	-18.1393	18.0467	0.89335	0.0:1.0:0.0:0.0	.	772;122;777;753	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	K	772;777;753	ENSP00000342581:Q772K;ENSP00000361882:Q777K;ENSP00000307781:Q753K	ENSP00000307781:Q753K	Q	+	1	0	ODF2	130302194	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.487000	0.81328	2.504000	0.84457	0.561000	0.74099	CAA		0.547	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			29	73	1	0	0.000147802	0.00632	0.000155192	29	73				
SETX	23064	broad.mit.edu	37	9	135203286	135203286	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:135203286G>C	ENST00000224140.5	-	10	3881	c.3699C>G	c.(3697-3699)atC>atG	p.I1233M	SETX_ENST00000372169.2_Missense_Mutation_p.I1233M|SETX_ENST00000393220.1_Missense_Mutation_p.I1233M	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1233					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)	p.I1233M(1)		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)		GAACTTTCCTGATGGGTTCTG	0.388																																							uc004cbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3697-3699)ATC>ATG		senataxin							107.0	106.0	106.0					9																	135203286		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203286G>C	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.3699C>G	9.37:g.135203286G>C	ENSP00000224140:p.Ile1233Met					SETX_uc004cbj.2_Missense_Mutation_p.I852M|SETX_uc010mzt.2_Missense_Mutation_p.I852M	p.I1233M	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3882	-		Myeloproliferative disorder(178;0.204)	1233					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3699C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614019	0.46631	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.88046	-2.23;-2.33;-1.95	5.7	-6.3	0.02007	.	2.886220	0.00894	N	0.002264	D	0.84822	0.5557	L	0.36672	1.1	0.09310	N	1	B;B;B	0.32526	0.374;0.257;0.374	B;B;B	0.34873	0.191;0.094;0.191	T	0.71676	-0.4521	10	0.54805	T	0.06	.	21.0143	0.99943	0.1409:0.0:0.8591:0.0	.	1233;1233;1233	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	1233	ENSP00000224140:I1233M;ENSP00000361242:I1233M;ENSP00000376913:I1233M	ENSP00000224140:I1233M	I	-	3	3	SETX	134193107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.176000	0.03099	-1.170000	0.02769	-0.355000	0.07637	ATC		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		8	144	0	0	0	0.008291	0	8	144				
UBAC1	10422	broad.mit.edu	37	9	138837002	138837002	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:138837002C>T	ENST00000371756.3	-	7	965	c.748G>A	c.(748-750)Gag>Aag	p.E250K	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	250					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E250K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GTGGCCCCCTCGGCCTCTGGG	0.627																																					NSCLC(78;973 1398 27381 29552 42415)	NSCLC(78;973 1398 27381 29552 42415)	uc004cgt.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(748-750)GAG>AAG		ubiquitin associated domain containing 1							71.0	72.0	71.0					9																	138837002		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138837002C>T	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.748G>A	9.37:g.138837002C>T	ENSP00000360821:p.Glu250Lys					UBAC1_uc004cgs.1_Missense_Mutation_p.E250K|UBAC1_uc004cgu.2_RNA	p.E250K	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	7	966	-		Myeloproliferative disorder(178;0.0511)	250					O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.748G>A	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	C	3.867	-0.028696	0.07589	.	.	ENSG00000130560	ENST00000371756	T	0.24350	1.86	5.38	-3.52	0.04682	.	0.401839	0.28895	N	0.013790	T	0.10337	0.0253	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.35425	-0.9789	10	0.06099	T	0.92	-2.759	0.9489	0.01372	0.201:0.3761:0.1837:0.2392	.	250	Q9BSL1	UBAC1_HUMAN	K	250	ENSP00000360821:E250K	ENSP00000360821:E250K	E	-	1	0	UBAC1	137976823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.025000	0.13577	-0.616000	0.05671	-0.793000	0.03317	GAG		0.627	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		4	58	0	0	0	0.000602	0	4	58				
CD99	4267	broad.mit.edu	37	X	2640679	2640679	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:2640679G>T	ENST00000381192.3	+	6	456	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CD99_ENST00000381187.3_Missense_Mutation_p.D76Y|CD99_ENST00000381184.1_Missense_Mutation_p.D92Y|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	92					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D92Y(1)|p.D92H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TAGCTTTTCAGATGCTGACCT	0.448																																							uc004cqm.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(274-276)GAT>TAT		CD99 antigen isoform a precursor							519.0	439.0	466.0					X																	2640679		2203	4296	6499	SO:0001583	missense	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2640679G>T	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.274G>T	X.37:g.2640679G>T	ENSP00000370588:p.Asp92Tyr					CD99_uc010nda.2_Missense_Mutation_p.D76Y|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.D92Y	p.D92Y	NM_002414	NP_002405	P14209	CD99_HUMAN			6	448	+			92			Extracellular (Potential).		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	ENST00000381192.3	37	c.274G>T	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	g	10.68	1.418725	0.25552	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	1.64	1.64	0.23874	.	0.237290	0.32161	U	0.006498	T	0.73583	0.3605	M	0.78049	2.395	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.988	T	0.60954	-0.7160	10	0.72032	D	0.01	.	6.3419	0.21327	0.0:0.0:1.0:0.0	.	76;92;92	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	Y	92;76;92;135	ENSP00000370588:D92Y;ENSP00000370582:D76Y;ENSP00000370579:D92Y;ENSP00000405544:D135Y	ENSP00000370579:D92Y	D	+	1	0	CD99	2650679	0.564000	0.26602	0.007000	0.13788	0.004000	0.04260	1.923000	0.40055	0.819000	0.34492	0.409000	0.27619	GAT		0.448	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		70	83	1	0	9.25274e-37	0.01441	1.15095e-36	70	83				
DMD	1756	broad.mit.edu	37	X	32563307	32563307	+	Missense_Mutation	SNP	G	G	T	rs398123876		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:32563307G>T	ENST00000357033.4	-	17	2343	c.2137C>A	c.(2137-2139)Cag>Aag	p.Q713K	DMD_ENST00000378677.2_Missense_Mutation_p.Q709K|DMD_ENST00000288447.4_Missense_Mutation_p.Q705K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	713					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q709K(1)|p.Q713K(1)|p.Q708K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAGTAATCTGCCTCTTCTTT	0.423																																							uc004dda.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2137-2139)CAG>AAG		dystrophin Dp427m isoform							206.0	153.0	171.0					X																	32563307		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32563307G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2137C>A	X.37:g.32563307G>T	ENSP00000354923:p.Gln713Lys					DMD_uc004dcz.2_Missense_Mutation_p.Q590K|DMD_uc004dcy.1_Missense_Mutation_p.Q709K|DMD_uc004ddb.1_Missense_Mutation_p.Q705K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q705K	p.Q713K	NM_004006	NP_003997	P11532	DMD_HUMAN			17	2381	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	713					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2137C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434900	0.83885	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73047	0.05;0.05;-0.71	5.37	5.37	0.77165	.	0.000000	0.35320	U	0.003281	D	0.83995	0.5375	M	0.77103	2.36	0.80722	D	1	D;P;D;P	0.63880	0.993;0.954;0.987;0.924	D;D;P;P	0.67900	0.952;0.954;0.625;0.9	D	0.84977	0.0886	10	0.49607	T	0.09	.	18.1826	0.89783	0.0:0.0:1.0:0.0	.	705;705;713;709	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	705;709;713;713;590;705	ENSP00000367948:Q709K;ENSP00000354923:Q713K;ENSP00000288447:Q705K	ENSP00000288447:Q705K	Q	-	1	0	DMD	32473228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.394000	0.90185	2.230000	0.72887	0.506000	0.49869	CAG		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	16	1	0	3.27435e-08	0.00245	3.54225e-08	12	16				
PJA1	64219	broad.mit.edu	37	X	68382049	68382049	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:68382049T>G	ENST00000361478.1	-	2	1410	c.1033A>C	c.(1033-1035)Atg>Ctg	p.M345L	PJA1_ENST00000374583.1_Missense_Mutation_p.M345L|PJA1_ENST00000374584.3_Missense_Mutation_p.M157L|PJA1_ENST00000374571.4_Missense_Mutation_p.M290L|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	345					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M345L(1)|p.M157L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGTCGGCCATGGTGCGTCGT	0.527																																							uc004dxh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1033-1035)ATG>CTG		praja 1 isoform a							122.0	80.0	94.0					X																	68382049		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382049T>G	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1033A>C	X.37:g.68382049T>G	ENSP00000355014:p.Met345Leu					PJA1_uc011mpi.1_Missense_Mutation_p.M63L|PJA1_uc004dxg.2_Missense_Mutation_p.M157L|PJA1_uc004dxi.2_Missense_Mutation_p.M290L	p.M345L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1319	-			345					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1033A>C	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	t	6.780	0.512772	0.12944	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	3.41	-0.566	0.11767	.	0.443377	0.19624	U	0.109859	T	0.04497	0.0123	L	0.44542	1.39	0.09310	N	1	B;B	0.18013	0.003;0.025	B;B	0.16289	0.003;0.015	T	0.46034	-0.9220	10	0.12430	T	0.62	-5.2808	5.925	0.19108	0.0:0.392:0.0:0.608	.	345;157	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	L	260;157;345;345;290	ENSP00000363712:M157L;ENSP00000363711:M345L;ENSP00000355014:M345L;ENSP00000363699:M290L	ENSP00000355014:M345L	M	-	1	0	PJA1	68298774	0.998000	0.40836	0.002000	0.10522	0.002000	0.02628	0.381000	0.20619	-0.186000	0.10533	-0.566000	0.04163	ATG		0.527	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		20	32	0	0	0	0.012319	0	20	32				
CDX4	1046	broad.mit.edu	37	X	72667133	72667133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:72667133C>A	ENST00000373514.2	+	1	44	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	15					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P15Q(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGCATGTACCCGGGCACTCTC	0.622																																							uc011mqk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(43-45)CCG>CAG		caudal type homeobox 4							41.0	39.0	40.0					X																	72667133		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667133C>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.44C>A	X.37:g.72667133C>A	ENSP00000362613:p.Pro15Gln						p.P15Q	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	44	+	Renal(35;0.156)		15					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.44C>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.355154	0.41700	.	.	ENSG00000131264	ENST00000373514	T	0.75477	-0.94	2.57	1.7	0.24286	Caudal-like activation domain (1);	0.237259	0.36066	N	0.002809	T	0.73976	0.3656	L	0.61218	1.895	0.37040	D	0.897102	P	0.47762	0.9	P	0.50352	0.638	T	0.75673	-0.3236	10	0.72032	D	0.01	-0.6436	6.8752	0.24143	0.0:0.8448:0.0:0.1552	.	15	O14627	CDX4_HUMAN	Q	15	ENSP00000362613:P15Q	ENSP00000362613:P15Q	P	+	2	0	CDX4	72583858	0.996000	0.38824	0.980000	0.43619	0.762000	0.43233	1.046000	0.30354	0.507000	0.28148	0.436000	0.28706	CCG		0.622	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		13	30	1	0	1.5842e-08	0.001855	1.72427e-08	13	30				
GPRASP1	9737	broad.mit.edu	37	X	101909099	101909099	+	Silent	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:101909099A>C	ENST00000361600.5	+	5	1059	c.258A>C	c.(256-258)tcA>tcC	p.S86S	GPRASP1_ENST00000415986.1_Silent_p.S86S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.S86S|GPRASP1_ENST00000537097.1_Silent_p.S86S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	86					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S86S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACCTGTTTCACGATTTAAGG	0.493																																							uc004ejj.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(256-258)TCA>TCC		G protein-coupled receptor associated sorting							144.0	144.0	144.0					X																	101909099		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101909099A>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.258A>C	X.37:g.101909099A>C						GPRASP1_uc004eji.3_Silent_p.S86S|GPRASP1_uc010nod.2_Silent_p.S86S	p.S86S	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	1059	+			86					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.258A>C	CCDS35352.1																																																																																				0.493	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		13	200	0	0	0	0.001855	0	13	200				
DCAF12L2	340578	broad.mit.edu	37	X	125298632	125298632	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:125298632C>T	ENST00000360028.2	-	1	1302	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E426K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	426										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGGGGAACTCTCCCATGCCA	0.612																																							uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1276-1278)GAG>AAG		DDB1 and CUL4 associated factor 12-like 2							120.0	120.0	120.0					X																	125298632		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298632C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1276G>A	X.37:g.125298632C>T	ENSP00000353128:p.Glu426Lys						p.E426K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1303	-			426					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1276G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002464	0.19121	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.16897	2.31;2.31	3.93	3.06	0.35304	.	0.211990	0.23775	N	0.044692	T	0.10165	0.0249	L	0.40543	1.245	0.23620	N	0.997275	P	0.36282	0.546	B	0.31016	0.123	T	0.18429	-1.0337	10	0.28530	T	0.3	.	4.0067	0.09605	0.2338:0.6413:0.0:0.1249	.	426	Q5VW00	DC122_HUMAN	K	426	ENSP00000441489:E426K;ENSP00000353128:E426K	ENSP00000353128:E426K	E	-	1	0	DCAF12L2	125126313	0.997000	0.39634	0.455000	0.27031	0.562000	0.35680	3.693000	0.54735	1.007000	0.39238	0.600000	0.82982	GAG		0.612	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		7	172	0	0	0	0.001984	0	7	172				
DCAF12L1	139170	broad.mit.edu	37	X	125685831	125685831	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:125685831G>T	ENST00000371126.1	-	1	1003	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	254								p.P254H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GATGGCCCTGGGGATGGCCTC	0.632																																							uc004eul.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(760-762)CCC>CAC		DDB1 and CUL4 associated factor 12-like 1							40.0	41.0	40.0					X																	125685831		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685831G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.761C>A	X.37:g.125685831G>T	ENSP00000360167:p.Pro254His						p.P254H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1012	-			254					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.761C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323898	0.41096	.	.	ENSG00000198889	ENST00000371126	T	0.66638	-0.22	4.09	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.35677	N	0.003045	T	0.73233	0.3561	L	0.53249	1.67	0.35736	D	0.818314	D	0.71674	0.998	D	0.62955	0.909	T	0.78324	-0.2248	10	0.45353	T	0.12	.	10.8027	0.46497	0.0:0.0:1.0:0.0	.	254	Q5VU92	DC121_HUMAN	H	254	ENSP00000360167:P254H	ENSP00000360167:P254H	P	-	2	0	DCAF12L1	125513512	1.000000	0.71417	0.448000	0.26945	0.248000	0.25809	8.180000	0.89694	2.314000	0.78098	0.425000	0.28330	CCC		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		11	36	1	0	6.42651e-13	0.010729	7.37706e-13	11	36				
GPR112	139378	broad.mit.edu	37	X	135433623	135433623	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:135433623G>C	ENST00000394143.1	+	7	7036	c.6745G>C	c.(6745-6747)Gaa>Caa	p.E2249Q	GPR112_ENST00000394141.1_Missense_Mutation_p.E2044Q|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E2249Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2044Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2249					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E2249Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAATGTTGAAATGAGCTT	0.294																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(6745-6747)GAA>CAA		G-protein coupled receptor 112							57.0	55.0	55.0					X																	135433623		2203	4294	6497	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135433623G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6745G>C	X.37:g.135433623G>C	ENSP00000377699:p.Glu2249Gln					GPR112_uc010nsb.1_Missense_Mutation_p.E2044Q|GPR112_uc010nsc.1_Intron	p.E2249Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			7	7036	+	Acute lymphoblastic leukemia(192;0.000127)		2249			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6745G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	11.04	1.520501	0.27211	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.32515	1.49;1.49;1.45;1.45	4.33	1.07	0.20283	.	.	.	.	.	T	0.23727	0.0574	N	0.14661	0.345	0.27400	N	0.954872	D;D	0.54207	0.964;0.965	P;P	0.51135	0.66;0.559	T	0.11916	-1.0568	9	0.62326	D	0.03	.	6.3324	0.21276	0.457:0.0:0.543:0.0	.	2044;2249	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2249;2249;2044;2044	ENSP00000377699:E2249Q;ENSP00000359686:E2249Q;ENSP00000416526:E2044Q;ENSP00000377697:E2044Q	ENSP00000359686:E2249Q	E	+	1	0	GPR112	135261289	0.959000	0.32827	0.852000	0.33557	0.673000	0.39480	0.412000	0.21131	0.147000	0.19030	0.591000	0.81541	GAA		0.294	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	21	0	0	0	0.004672	0	3	21				
MAGEA8	4107	broad.mit.edu	37	X	149013194	149013194	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:149013194C>A	ENST00000542674.1	+	3	669	c.148C>A	c.(148-150)Ctt>Att	p.L50I	MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000535454.1_Missense_Mutation_p.L50I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.L50I	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	50								p.L50I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGGAACCCTTGAGGAGGT	0.577																																							uc004fdw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CTT>ATT		melanoma antigen family A, 8							61.0	49.0	53.0					X																	149013194		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013194C>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.148C>A	X.37:g.149013194C>A	ENSP00000443776:p.Leu50Ile						p.L50I	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	363	+	Acute lymphoblastic leukemia(192;6.56e-05)		50					Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.148C>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	7.263	0.605649	0.14002	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04758	3.56;3.56;3.56	1.33	1.33	0.21861	Melanoma associated antigen, MAGE, N-terminal (1);	2.584090	0.01342	N	0.011601	T	0.11324	0.0276	M	0.80332	2.49	0.09310	N	1	P	0.41673	0.759	B	0.43990	0.438	T	0.36163	-0.9759	10	0.22109	T	0.4	.	5.554	0.17105	0.0:1.0:0.0:0.0	.	50	P43361	MAGA8_HUMAN	I	50	ENSP00000438293:L50I;ENSP00000443776:L50I;ENSP00000286482:L50I	ENSP00000286482:L50I	L	+	1	0	MAGEA8	148773852	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.637000	0.24659	0.936000	0.37367	0.370000	0.22315	CTT		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		16	11	1	0	5.35267e-07	0.007413	5.75573e-07	16	11				
HECTD2	143279	broad.mit.edu	37	10	93238018	93238018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:93238018delA	ENST00000298068.5	+	6	755	c.661delA	c.(661-663)aaafs	p.K221fs	HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000446394.1_Frame_Shift_Del_p.K221fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACGAGAATGGAAAGGGTAAAC	0.323																																					NSCLC(12;376 469 1699 39910 41417)	NSCLC(12;376 469 1699 39910 41417)	uc001khl.2		NA																	0				skin(1)	1						c.(661-663)AAAfs		HECT domain containing 2 isoform a							91.0	86.0	88.0					10																	93238018		2203	4297	6500	SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93238018delA	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.661delA	10.37:g.93238018delA	ENSP00000298068:p.Lys221fs					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Del_p.K221fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR	p.K221fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			6	761	+			221					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Del	DEL	ENST00000298068.5	37	c.661delA	CCDS7414.1																																																																																				0.323	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			14	61	NA	NA	NA	NA	NA	14	61	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46799028	46799029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:46799028_46799029insT	ENST00000529230.1	-	23	2868_2869	c.2822_2823insA	c.(2821-2823)aatfs	p.N941fs	CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.N941fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.N941fs|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.N941fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	941					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGATGCCTAAATTTTTTACATG	0.431																																					Ovarian(4;85 273 2202 4844 13323)	Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(2821-2823)AATfs		colonic and hepatic tumor over-expressed protein																																				SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46799028_46799029insT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2823dupA	11.37:g.46799034_46799034dupT	ENSP00000432768:p.Asn941fs					CKAP5_uc009ylg.1_Frame_Shift_Ins_p.N827fs|CKAP5_uc001ndj.1_Frame_Shift_Ins_p.N941fs	p.N941fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			23	2932_2933	-			941			HEAT 6.		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Ins	INS	ENST00000529230.1	37	c.2822_2823insA	CCDS31477.1																																																																																				0.431	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		22	53	NA	NA	NA	NA	NA	22	53	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444056	20444057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:20444056_20444057insC	ENST00000305051.5	+	1	454_455	c.379_380insC	c.(379-381)tttfs	p.F127fs		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGATTTTCTTTGTTCATCTC	0.446																																							uc010tkx.1		NA																	0				ovary(1)	1						c.(379-381)TTTfs		olfactory receptor, family 4, subfamily K,																																				SO:0001589	frameshift_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444056_20444057insC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	Exception_encountered	14.37:g.20444056_20444057insC	ENSP00000304077:p.Phe127fs						p.F127fs	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	379_380	+	all_cancers(95;0.00108)		127			Helical; Name=3; (Potential).		B9EIL3|Q6IEZ4	Frame_Shift_Ins	INS	ENST00000305051.5	37	c.379_380insC	CCDS32026.1																																																																																				0.446	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			45	167	NA	NA	NA	NA	NA	45	167	---	---	---	---
OR4E2	26686	broad.mit.edu	37	14	22134212	22134213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:22134212_22134213insT	ENST00000408935.1	+	1	916_917	c.916_917insT	c.(916-918)gttfs	p.V306fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCAGAGACAAGTTTTTTTCACG	0.406																																							uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(916-918)GTTfs		olfactory receptor, family 4, subfamily E,				1,3677		0,1,1838						4.6	0.7			35	0,7916		0,0,3958	no	frameshift	OR4E2	NM_001001912.1		0,1,5796	A1A1,A1R,RR		0.0,0.0272,0.0086				1,11593				SO:0001589	frameshift_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134212_22134213insT		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.923dupT	14.37:g.22134219_22134219dupT	ENSP00000386195:p.Val306fs						p.V306fs	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	916_917	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	306			Cytoplasmic (Potential).		Q6IET6|Q96R62	Frame_Shift_Ins	INS	ENST00000408935.1	37	c.916_917insT	CCDS41916.1																																																																																				0.406	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			8	58	NA	NA	NA	NA	NA	8	58	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34077194	34077197	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	CCTC	CCTC	-	-	CCTC	CCTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:34077194_34077197delCCTC	ENST00000254466.6	-	2	553_556	c.526_529delGAGG	c.(526-531)gaggagfs	p.EE176fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.EE176fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	176					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGCACCTCCTCCTCGATCTCCTCC	0.711																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(526-531)GAGGAGfs		growth arrest-specific 2 like 2																																				SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077194_34077197delCCTC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.526_529delGAGG	17.37:g.34077194_34077197delCCTC	ENSP00000254466:p.Glu176fs						p.E176fs	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	554_557	-		Ovarian(249;0.17)	176_177					Q8NHY4	Frame_Shift_Del	DEL	ENST00000254466.6	37	c.526_529delGAGG	CCDS11298.1																																																																																				0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		57	233	NA	NA	NA	NA	NA	57	233	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278661	114278661	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:114278661delA	ENST00000357077.4	+	38	8940	c.8887delA	c.(8887-8889)accfs	p.T2963fs	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.T2930fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2963					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)		GTATTCTGTTACCATCACATC	0.398																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8887-8889)ACCfs		ankyrin 2 isoform 1							162.0	163.0	163.0					4																	114278661		2203	4300	6503	SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278661delA	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.8887delA	4.37:g.114278661delA	ENSP00000349588:p.Thr2963fs					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Frame_Shift_Del_p.T265fs|ANK2_uc011cgb.1_Frame_Shift_Del_p.T2978fs	p.T2963fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8987	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2930					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	37	c.8887delA	CCDS3702.1																																																																																				0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		39	251	NA	NA	NA	NA	NA	39	251	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77538221	77538221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:77538221delT	ENST00000248550.7	+	7	633	c.557delT	c.(556-558)attfs	p.I186fs	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000415251.2_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000450574.1_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.I152fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATTGCCAGATTGTTTCCACA	0.423																																							uc003ugs.3		NA																	0				ovary(1)	1						c.(556-558)ATTfs		putative homeodomain transcription factor 2							96.0	92.0	93.0					7																	77538221		1925	4145	6070	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77538221delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.557delT	7.37:g.77538221delT	ENSP00000248550:p.Ile186fs					PHTF2_uc003ugo.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugp.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugq.3_Frame_Shift_Del_p.I148fs|PHTF2_uc010ldv.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugr.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugt.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugu.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugv.2_Frame_Shift_Del_p.I11fs|PHTF2_uc010ldw.1_Frame_Shift_Del_p.I11fs	p.I186fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			7	683	+			186					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.557delT																																																																																					0.423	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		53	70	NA	NA	NA	NA	NA	53	70	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48744402	48744402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:48744402delT	ENST00000314191.2	-	61	8291	c.8235delA	c.(8233-8235)aaafs	p.K2745fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.K2745fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2746	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCAACGCCTTTTCTGGCAT	0.507								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8236-8238)AAAfs	NHEJ	protein kinase, DNA-activated, catalytic							177.0	183.0	181.0					8																	48744402		2006	4181	6187	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744402delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8235delA	8.37:g.48744402delT	ENSP00000313420:p.Lys2745fs					PRKDC_uc003xqj.2_Frame_Shift_Del_p.K2746fs|PRKDC_uc011ldh.1_Intron	p.K2746fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN			61	8295	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2746			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8238delA																																																																																					0.507	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	704	NA	NA	NA	NA	NA	7	704	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79283520	79283520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:79283520delC	ENST00000373294.5	+	7	922	c.894delC	c.(892-894)tacfs	p.Y298fs	TBX22_ENST00000442340.1_Frame_Shift_Del_p.Y178fs|TBX22_ENST00000373291.1_Frame_Shift_Del_p.Y178fs|TBX22_ENST00000373296.3_Frame_Shift_Del_p.Y298fs	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	298					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGAGACCTACCCATGGAGGC	0.353																																							uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(892-894)TACfs		T-box 22 isoform 1							95.0	87.0	90.0					X																	79283520		2203	4300	6503	SO:0001589	frameshift_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79283520delC	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.894delC	X.37:g.79283520delC	ENSP00000362390:p.Tyr298fs					TBX22_uc004edi.1_Frame_Shift_Del_p.Y178fs|TBX22_uc004edj.1_Frame_Shift_Del_p.Y298fs	p.Y298fs	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			8	1028	+			298					Q5JZ06|Q96LC0|Q9HBF1	Frame_Shift_Del	DEL	ENST00000373294.5	37	c.894delC	CCDS14445.1																																																																																				0.353	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		35	63	NA	NA	NA	NA	NA	35	63	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																							uc004ehz.1		NA																	0				ovary(1)|lung(1)	2						c.(181-186)TCTGAT>TCT		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_uc004eia.1_In_Frame_Del_p.D66del|ARMCX3_uc004eib.1_In_Frame_Del_p.D66del|ARMCX3_uc004eic.1_In_Frame_Del_p.D66del	p.D66del	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN			5	716_718	+			66					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		7	198	NA	NA	NA	NA	NA	7	198	---	---	---	---
