#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RUNX3	864	broad.mit.edu	37	1	25256172	25256172	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:25256172G>T	ENST00000308873.6	-	1	196	c.188C>A	c.(187-189)gCa>gAa	p.A63E	RUNX3_ENST00000338888.3_Missense_Mutation_p.A77E|RUNX3_ENST00000399916.1_Missense_Mutation_p.A77E|RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000496967.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	63	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGCTCGCCTGCGTGGTCCGC	0.731																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(229-231)gCa>gAa		runt-related transcription factor 3							28.0	24.0	25.0					1																	25256172		2198	4295	6493	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25256172G>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.188C>A	1.37:g.25256172G>T	ENSP00000308051:p.Ala63Glu					RUNX3_ENST00000338888.3_Missense_Mutation_p.A77E|RUNX3_ENST00000308873.6_Missense_Mutation_p.A63E	p.A77E	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	2	668	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	63			Runt.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.230C>A	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422420	0.43020	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000428150	D;D;D	0.99422	-5.88;-5.88;-5.88	3.23	2.3	0.28687	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.212522	0.38548	N	0.001650	D	0.97424	0.9157	N	0.14661	0.345	0.80722	D	1	P;P;P;B	0.51449	0.945;0.739;0.78;0.284	P;B;B;B	0.48304	0.573;0.286;0.409;0.345	D	0.95660	0.8714	10	0.51188	T	0.08	-12.7688	9.0845	0.36572	0.114:0.0:0.886:0.0	.	63;77;77;63	E9PH34;Q13761-2;B1AJV5;Q13761	.;.;.;RUNX3_HUMAN	E	77;63;77;63	ENSP00000382800:A77E;ENSP00000308051:A63E;ENSP00000343477:A77E	ENSP00000308051:A63E	A	-	2	0	RUNX3	25128759	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	7.230000	0.78097	0.561000	0.29186	0.491000	0.48974	GCA		0.731	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		4	16	1	0	0.000602214	1	0.00061809	4	16				
FLG	2312	broad.mit.edu	37	1	152280015	152280015	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152280015G>A	ENST00000368799.1	-	3	7382	c.7347C>T	c.(7345-7347)agC>agT	p.S2449S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2449	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCTGGAGCTGTCTCGTG	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7345-7347)agC>agT		filaggrin							326.0	298.0	307.0					1																	152280015		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280015G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7347C>T	1.37:g.152280015G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2449S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7382	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2449			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7347C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		166	276	0	0	0	1	0	166	276				
NR5A2	2494	broad.mit.edu	37	1	200017398	200017398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:200017398G>T	ENST00000367362.3	+	5	808	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NR5A2_ENST00000236914.3_Missense_Mutation_p.A142S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A116S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	188					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTCATCCGAGCCAATGGACT	0.502																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(562-564)Gcc>Tcc		nuclear receptor subfamily 5, group A, member 2							157.0	148.0	151.0					1																	200017398		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017398G>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.562G>T	1.37:g.200017398G>T	ENSP00000356331:p.Ala188Ser					NR5A2_ENST00000236914.3_Missense_Mutation_p.A142S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A116S	p.A188S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			5	808	+	Prostate(682;0.19)		188					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.562G>T	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589169|3.589169	0.66105|0.66105	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94537|.	-3.4;-3.45;-3.44|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Nuclear hormone receptor, ligand-binding (1);|.	0.089509|.	0.85682|.	D|.	0.000000|.	T|T	0.70404|0.70404	0.3220|0.3220	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	B;B|.	0.22211|.	0.01;0.066|.	B;B|.	0.20184|.	0.028;0.028|.	T|T	0.63998|0.63998	-0.6510|-0.6510	9|5	.|.	.|.	.|.	.|.	20.3316|20.3316	0.98722|0.98722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142;188|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	S|D	188;142;116;108|108	ENSP00000356331:A188S;ENSP00000236914:A142S;ENSP00000439116:A116S|.	.|.	A|E	+|+	1|3	0|2	NR5A2|NR5A2	198284021|198284021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.747000|9.747000	0.98863|0.98863	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GCC|GAG		0.502	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			37	141	1	0	1.57351e-24	1	2.07903e-24	37	141				
CA11	770	broad.mit.edu	37	19	49142821	49142821	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:49142821G>C	ENST00000084798.4	-	6	1304	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	209						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		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;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TAGGAGATGCGAGTGATGGTG	0.577																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(625-627)Cgc>Ggc		carbonic anhydrase XI							153.0	128.0	137.0					19																	49142821		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142821G>C	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.625C>G	19.37:g.49142821G>C	ENSP00000084798:p.Arg209Gly					SEC1P_ENST00000430145.2_RNA	p.R209G	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	6	1304	-		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)	209					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.625C>G	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994376	0.54041	.	.	ENSG00000063180	ENST00000084798	T	0.66995	-0.24	3.34	3.34	0.38264	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.219699	0.36268	N	0.002695	T	0.71995	0.3406	L	0.52126	1.63	0.43313	D	0.995327	D	0.60575	0.988	P	0.61722	0.893	T	0.73956	-0.3819	10	0.62326	D	0.03	.	10.3541	0.43954	0.0:0.0:1.0:0.0	.	209	O75493	CAH11_HUMAN	G	209	ENSP00000084798:R209G	ENSP00000084798:R209G	R	-	1	0	CA11	53834633	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.832000	0.39151	1.866000	0.54105	0.455000	0.32223	CGC		0.577	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		9	33	0	0	0	1	0	9	33				
PCDHB5	26167	broad.mit.edu	37	5	140516083	140516083	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516083C>A	ENST00000231134.5	+	1	1284	c.1067C>A	c.(1066-1068)cCa>cAa	p.P356Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTACCCCAGAAAATGCC	0.527																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1066-1068)cCa>cAa									88.0	95.0	93.0					5																	140516083		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516083C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1067C>A	5.37:g.140516083C>A	ENSP00000231134:p.Pro356Gln						p.P356Q	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1284	+			356			Cadherin 4.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1067C>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708606	0.30322	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.73681	-0.77	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.85093	0.5618	M	0.91872	3.25	0.35024	D	0.758146	P	0.45011	0.848	P	0.48738	0.588	D	0.90578	0.4527	9	0.46703	T	0.11	.	19.0192	0.92906	0.0:1.0:0.0:0.0	.	356	Q9Y5E4	PCDB5_HUMAN	Q	356;140	ENSP00000231134:P356Q	ENSP00000231134:P356Q	P	+	2	0	PCDHB5	140496267	0.000000	0.05858	0.998000	0.56505	0.084000	0.17831	0.957000	0.29215	2.577000	0.86979	0.555000	0.69702	CCA		0.527	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		52	53	1	0	1.91693e-13	1	2.27076e-13	52	53				
APOLD1	81575	broad.mit.edu	37	12	12940571	12940571	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:12940571A>T	ENST00000326765.6	+	2	895	c.825A>T	c.(823-825)gcA>gcT	p.A275A	APOLD1_ENST00000356591.4_Silent_p.A244A	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	275					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		ACCAGCGTGCAGGGCTGTTTT	0.552																																						ENST00000356591.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(730-732)gcA>gcT		apolipoprotein L domain containing 1							42.0	47.0	45.0					12																	12940571		2095	4209	6304	SO:0001819	synonymous_variant	81575				angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding	g.chr12:12940571A>T	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.825A>T	12.37:g.12940571A>T						RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.A275A	p.A244A	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)	2	817	+		Prostate(47;0.0632)	275					Q8IVR2|Q9H0I5	Silent	SNP	ENST00000326765.6	37	c.732A>T	CCDS44833.1																																																																																				0.552	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		39	43	0	0	0	1	0	39	43				
PRSS58	136541	broad.mit.edu	37	7	141952426	141952426	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:141952426C>T	ENST00000552471.1	-	4	761	c.442G>A	c.(442-444)Gag>Aag	p.E148K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E148K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAATCGGGCTCTTTGTCTAAA	0.353																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(442-444)Gag>Aag		protease, serine, 58							103.0	101.0	102.0					7																	141952426		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952426C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.442G>A	7.37:g.141952426C>T	ENSP00000446916:p.Glu148Lys					PRSS58_ENST00000547058.2_Missense_Mutation_p.E148K	p.E148K			Q8IYP2	PRS58_HUMAN			4	761	-			148			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.442G>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291643	0.10567	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.87887	-2.31;-2.31	4.4	4.4	0.53042	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.75591	0.3870	N	0.11131	0.1	0.09310	N	0.999999	B	0.26902	0.163	B	0.23419	0.046	T	0.63795	-0.6556	9	0.33940	T	0.23	.	12.7924	0.57541	0.0:1.0:0.0:0.0	.	148	Q8IYP2	PRS58_HUMAN	K	148	ENSP00000447588:E148K;ENSP00000446916:E148K	ENSP00000307206:E148K	E	-	1	0	PRSS58	141598904	0.252000	0.23972	0.292000	0.24919	0.010000	0.07245	1.281000	0.33214	2.727000	0.93392	0.563000	0.77884	GAG		0.353	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		36	114	0	0	0	1	0	36	114				
SNORD113-4	767564	broad.mit.edu	37	14	101402883	101402883	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:101402883T>C	ENST00000364802.1	+	0	56				SNORD112_ENST00000516335.1_RNA|SNORD113-5_ENST00000607261.1_RNA	NR_003232.1				small nucleolar RNA, C/D box 113-4																		ATTAAACCCATATGCAATTCT	0.378																																						ENST00000364802.1																			0																				140.0	137.0	138.0					14																	101402883		876	1991	2867			767564							g.chr14:101402883T>C			14q32.31	2013-09-05			ENSG00000201672	ENSG00000201672		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32983	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003232		Approved	14q(I-4)	uc001yil.3				14.37:g.101402883T>C								NR_003232.1						0	56	+									RNA	SNP	ENST00000364802.1	37																																																																																						0.378	SNORD113-4-201	KNOWN	basic	snoRNA	snoRNA		NR_003232.1		83	49	0	0	0	1	0	83	49				
HDC	3067	broad.mit.edu	37	15	50555480	50555480	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50555480G>T	ENST00000267845.3	-	2	558	c.156C>A	c.(154-156)gaC>gaA	p.D52E	HDC_ENST00000543581.1_Missense_Mutation_p.D52E	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TGTCCCAGCTGTCGGGGTCCT	0.597																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(154-156)gaC>gaA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						140.0	130.0	133.0					15																	50555480		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555480G>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.156C>A	15.37:g.50555480G>T	ENSP00000267845:p.Asp52Glu					HDC_ENST00000543581.1_Missense_Mutation_p.D52E	p.D52E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	558	-		all_lung(180;0.0138)	52						Missense_Mutation	SNP	ENST00000267845.3	37	c.156C>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	5.086	0.201457	0.09652	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.33654	1.4;1.4	6.05	4.16	0.48862	Pyridoxal phosphate-dependent transferase, major domain (1);	0.119078	0.64402	N	0.000014	T	0.05318	0.0141	N	0.00061	-2.33	0.35746	D	0.819022	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.001	T	0.20042	-1.0287	10	0.02654	T	1	-24.9568	3.5251	0.07756	0.1297:0.1154:0.5171:0.2378	.	52;52	B7ZM01;P19113	.;DCHS_HUMAN	E	52	ENSP00000267845:D52E;ENSP00000440252:D52E	ENSP00000267845:D52E	D	-	3	2	HDC	48342772	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.988000	0.40697	0.866000	0.35629	0.650000	0.86243	GAC		0.597	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			29	106	1	0	2.46105e-21	1	3.17977e-21	29	106				
SHBG	6462	broad.mit.edu	37	17	7534132	7534132	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7534132G>T	ENST00000380450.4	+	3	369	c.338G>T	c.(337-339)tGg>tTg	p.W113L	SHBG_ENST00000575314.1_Missense_Mutation_p.W55L|SHBG_ENST00000572182.1_Missense_Mutation_p.W55L|SAT2_ENST00000269298.5_5'Flank|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000575903.1_Missense_Mutation_p.W113L|SHBG_ENST00000570547.1_Missense_Mutation_p.W55L|SHBG_ENST00000340624.5_Missense_Mutation_p.W55L|SHBG_ENST00000576728.1_Missense_Mutation_p.W55L|SHBG_ENST00000576478.1_Missense_Mutation_p.W55L|SHBG_ENST00000441599.2_Missense_Mutation_p.W113L|SHBG_ENST00000572262.1_Missense_Mutation_p.W55L|SHBG_ENST00000574539.1_Missense_Mutation_p.W55L|SHBG_ENST00000416273.3_Missense_Mutation_p.W113L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	113	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	CACAATCACTGGGCCCAGCTT	0.567																																						ENST00000380450.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(337-339)tGg>tTg		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						78.0	74.0	76.0					17																	7534132		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7534132G>T		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.338G>T	17.37:g.7534132G>T	ENSP00000369816:p.Trp113Leu					SHBG_ENST00000576728.1_Missense_Mutation_p.W55L|SHBG_ENST00000574539.1_Missense_Mutation_p.W55L|SHBG_ENST00000572182.1_Missense_Mutation_p.W55L|SHBG_ENST00000576478.1_Missense_Mutation_p.W55L|SHBG_ENST00000575314.1_Missense_Mutation_p.W55L|SHBG_ENST00000570547.1_Missense_Mutation_p.W55L|SHBG_ENST00000416273.3_Missense_Mutation_p.W113L|SHBG_ENST00000575903.1_Missense_Mutation_p.W113L|SHBG_ENST00000572262.1_Missense_Mutation_p.W55L|SHBG_ENST00000441599.2_Missense_Mutation_p.W113L|SHBG_ENST00000340624.5_Missense_Mutation_p.W55L	p.W113L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	3	369	+		all_cancers(10;0.0867)	113			Laminin G-like 1.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.338G>T	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884810	0.17540	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.04	1.91	0.25777	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.837001	0.10906	N	0.621104	T	0.62514	0.2434	L	0.38838	1.175	0.23865	N	0.996622	B;B;B;B;B;B;B;B;B;B;B	0.13594	0.007;0.007;0.002;0.001;0.004;0.002;0.002;0.007;0.006;0.008;0.005	B;B;B;B;B;B;B;B;B;B;B	0.14023	0.002;0.002;0.007;0.009;0.004;0.004;0.004;0.01;0.005;0.004;0.003	T	0.43925	-0.9361	10	0.11485	T	0.65	-0.7857	5.1631	0.15071	0.1822:0.0:0.6397:0.1782	.	113;108;86;113;113;113;86;86;86;113;55	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;B0FWH7;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;.;.;.;SHBG_HUMAN;.	L	55;113;113;113;113;113	ENSP00000345675:W55L;ENSP00000393426:W113L;ENSP00000388867:W113L;ENSP00000369816:W113L	ENSP00000345675:W55L	W	+	2	0	SHBG	7474857	0.764000	0.28473	0.305000	0.25099	0.014000	0.08584	1.050000	0.30404	0.500000	0.27991	0.561000	0.74099	TGG		0.567	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		53	21	1	0	8.44121e-28	1	1.14113e-27	53	21				
PDS5A	23244	broad.mit.edu	37	4	39924301	39924301	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:39924301C>T	ENST00000303538.8	-	6	1134	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PDS5A_ENST00000503396.1_Missense_Mutation_p.D199N	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTAACTCCATCACCTTCCATG	0.318																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(595-597)Gat>Aat		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							108.0	103.0	104.0					4																	39924301		1895	4121	6016	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39924301C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.595G>A	4.37:g.39924301C>T	ENSP00000303427:p.Asp199Asn					PDS5A_ENST00000503396.1_Missense_Mutation_p.D199N	p.D199N	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			6	1134	-			199						Missense_Mutation	SNP	ENST00000303538.8	37	c.595G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573508	0.96553	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.69806	-0.18;-0.43	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.82348	-0.0502	9	.	.	.	-19.5114	19.9918	0.97368	0.0:1.0:0.0:0.0	.	199;199	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	N	199	ENSP00000303427:D199N;ENSP00000426749:D199N	.	D	-	1	0	PDS5A	39600696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.791000	0.96007	0.650000	0.86243	GAT		0.318	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		5	21	0	0	0	1	0	5	21				
SLC7A14	57709	broad.mit.edu	37	3	170198740	170198740	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:170198740A>G	ENST00000231706.5	-	7	1646	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	444					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTCCTCAGACAAGAACTTGAC	0.517																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1330-1332)tTg>tCg		solute carrier family 7, member 14							128.0	113.0	118.0					3																	170198740		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198740A>G	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1331T>C	3.37:g.170198740A>G	ENSP00000231706:p.Leu444Ser					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.L444S	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1646	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		444					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1331T>C	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523428	0.44866	.	.	ENSG00000013293	ENST00000231706	D	0.88354	-2.37	5.03	5.03	0.67393	.	0.339372	0.25397	N	0.030974	D	0.86306	0.5901	M	0.67953	2.075	0.50171	D	0.999851	B	0.13594	0.008	B	0.14023	0.01	T	0.81426	-0.0938	10	0.09338	T	0.73	.	14.7529	0.69540	1.0:0.0:0.0:0.0	.	444	Q8TBB6	S7A14_HUMAN	S	444	ENSP00000231706:L444S	ENSP00000231706:L444S	L	-	2	0	SLC7A14	171681434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.955000	0.76007	1.893000	0.54813	0.533000	0.62120	TTG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		7	62	0	0	0	1	0	7	62				
ZNF497	162968	broad.mit.edu	37	19	58868868	58868868	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58868868G>T	ENST00000311044.3	-	3	322	c.134C>A	c.(133-135)aCg>aAg	p.T45K	A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.T45K	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGAACCTCCGTGGAGTTTTC	0.706																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(133-135)aCg>aAg		zinc finger protein 497							12.0	14.0	14.0					19																	58868868		1981	3898	5879	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868868G>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.134C>A	19.37:g.58868868G>T	ENSP00000311183:p.Thr45Lys					ZNF497_ENST00000425453.3_Missense_Mutation_p.T45K|CTD-2619J13.8_ENST00000599109.1_RNA	p.T45K	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	322	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	45					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.134C>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433420	0.43224	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.06608	3.28;3.28	1.75	0.654	0.17833	.	.	.	.	.	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	B	0.24426	0.103	B	0.20955	0.032	T	0.46386	-0.9195	9	0.06625	T	0.88	.	5.9954	0.19491	0.0:0.3286:0.6714:0.0	.	45	Q6ZNH5	ZN497_HUMAN	K	45	ENSP00000311183:T45K;ENSP00000402815:T45K	ENSP00000311183:T45K	T	-	2	0	ZNF497	63560680	0.003000	0.15002	0.001000	0.08648	0.205000	0.24178	0.256000	0.18351	0.281000	0.22233	0.205000	0.17691	ACG		0.706	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		9	24	1	0	3.86212e-05	1	4.04933e-05	9	24				
SIGLEC1	6614	broad.mit.edu	37	20	3686664	3686664	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:3686664C>T	ENST00000344754.4	-	3	432	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A145T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	145	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGGGAGGCAATGGTGGGC	0.627																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(433-435)Gcc>Acc		sialic acid binding Ig-like lectin 1, sialoadhesin							54.0	57.0	56.0					20																	3686664		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686664C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.433G>A	20.37:g.3686664C>T	ENSP00000341141:p.Ala145Thr					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A145T	p.A145T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	432	-			145			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.433G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	4.932	0.173245	0.09391	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.74632	-0.86;-0.86	5.14	-5.02	0.02982	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.673556	0.12427	N	0.469898	T	0.42720	0.1215	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.42068	-0.9473	10	0.07990	T	0.79	.	6.61	0.22747	0.1215:0.3466:0.0:0.5319	.	145;145;145	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	T	145	ENSP00000341141:A145T;ENSP00000202578:A145T	ENSP00000202578:A145T	A	-	1	0	SIGLEC1	3634664	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.513000	0.00957	-0.939000	0.03709	-1.594000	0.00841	GCC		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		14	42	0	0	0	1	0	14	42				
COL17A1	1308	broad.mit.edu	37	10	105821188	105821188	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105821188C>G	ENST00000353479.5	-	13	1244	c.954G>C	c.(952-954)gtG>gtC	p.V318V	COL17A1_ENST00000369733.3_Silent_p.V318V|COL17A1_ENST00000393211.3_Silent_p.V318V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	318	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGCCAGTGTTCACAGCCGCAG	0.577																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(952-954)gtG>gtC		collagen, type XVII, alpha 1							65.0	52.0	57.0					10																	105821188		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105821188C>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.954G>C	10.37:g.105821188C>G						COL17A1_ENST00000369733.3_Silent_p.V318V|COL17A1_ENST00000393211.3_Silent_p.V318V	p.V318V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	13	1244	-		Colorectal(252;0.103)|Breast(234;0.122)	318			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.954G>C	CCDS7554.1																																																																																				0.577	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		14	14	0	0	0	1	0	14	14				
KCNH2	3757	broad.mit.edu	37	7	150648077	150648077	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:150648077G>A	ENST00000262186.5	-	8	2478	c.2077C>T	c.(2077-2079)Ctg>Ttg	p.L693L	KCNH2_ENST00000430723.3_Silent_p.L693L|KCNH2_ENST00000330883.4_Silent_p.L353L|KCNH2_ENST00000392968.2_Silent_p.L597L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	693					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CGCTGGCGCAGGGGATTGGGG	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1789-1791)Ctg>Ttg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						109.0	87.0	94.0					7																	150648077		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648077G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2077C>T	7.37:g.150648077G>A						KCNH2_ENST00000262186.5_Silent_p.L693L|KCNH2_ENST00000430723.3_Silent_p.L693L|KCNH2_ENST00000330883.4_Silent_p.L353L	p.L597L			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	2909	-	all_neural(206;0.219)		693					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.1789C>T	CCDS5910.1																																																																																				0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		27	37	0	0	0	1	0	27	37				
FGA	2243	broad.mit.edu	37	4	155507723	155507723	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:155507723G>T	ENST00000302053.3	-	5	936	c.858C>A	c.(856-858)ccC>ccA	p.P286P	FGA_ENST00000403106.3_Silent_p.P286P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	286					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAGGGTTCCTGGGGCTTTCCG	0.552																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(856-858)ccC>ccA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						96.0	104.0	101.0					4																	155507723		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507723G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.858C>A	4.37:g.155507723G>T						FGA_ENST00000403106.3_Silent_p.P286P	p.P286P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	936	-	all_hematologic(180;0.215)	Renal(120;0.0458)	286					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.858C>A	CCDS3787.1																																																																																				0.552	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		19	105	1	0	2.94398e-08	1	3.23174e-08	19	105				
NRIP1	8204	broad.mit.edu	37	21	16339781	16339781	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16339781T>C	ENST00000400202.1	-	3	1445	c.733A>G	c.(733-735)Agc>Ggc	p.S245G	NRIP1_ENST00000318948.4_Missense_Mutation_p.S245G|NRIP1_ENST00000400199.1_Missense_Mutation_p.S245G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	245	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCACCATGCTTGCAACAGCC	0.473																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(733-735)Agc>Ggc		nuclear receptor interacting protein 1							195.0	168.0	177.0					21																	16339781		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339781T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.733A>G	21.37:g.16339781T>C	ENSP00000383063:p.Ser245Gly					NRIP1_ENST00000400199.1_Missense_Mutation_p.S245G|NRIP1_ENST00000318948.4_Missense_Mutation_p.S245G	p.S245G			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1445	-			245			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.733A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943383	0.73672	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.12774	2.65;2.65;2.65	5.99	5.99	0.97316	.	0.097288	0.64402	D	0.000002	T	0.33089	0.0851	L	0.59436	1.845	0.54753	D	0.999988	D	0.69078	0.997	D	0.64042	0.921	T	0.01360	-1.1375	10	0.59425	D	0.04	-14.7144	16.4886	0.84191	0.0:0.0:0.0:1.0	.	245	P48552	NRIP1_HUMAN	G	245	ENSP00000383060:S245G;ENSP00000383063:S245G;ENSP00000327213:S245G	ENSP00000327213:S245G	S	-	1	0	NRIP1	15261652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.294000	0.77228	0.528000	0.53228	AGC		0.473	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		75	195	0	0	0	1	0	75	195				
CCNE2	9134	broad.mit.edu	37	8	95897703	95897703	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:95897703G>C	ENST00000520509.1	-	8	936	c.684C>G	c.(682-684)ctC>ctG	p.L228L	CCNE2_ENST00000308108.4_Silent_p.L228L|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	228					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATATAATGAGTTCCATCC	0.299																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(682-684)ctC>ctG		cyclin E2							52.0	54.0	53.0					8																	95897703		2203	4296	6499	SO:0001819	synonymous_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95897703G>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.684C>G	8.37:g.95897703G>C						CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L|CCNE2_ENST00000308108.4_Silent_p.L228L	p.L228L			O96020	CCNE2_HUMAN			8	936	-	Breast(36;8.75e-07)		228					O95439	Silent	SNP	ENST00000520509.1	37	c.684C>G	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530936	0.13127	.	.	ENSG00000175305	ENST00000524224	.	.	.	5.45	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6279	0.39761	0.3056:0.0:0.6944:0.0	.	.	.	.	X	92	.	.	S	-	2	0	CCNE2	95966879	0.952000	0.32445	0.739000	0.30968	0.941000	0.58515	0.329000	0.19698	0.270000	0.21984	0.655000	0.94253	TCA		0.299	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		38	112	0	0	0	1	0	38	112				
MYH4	4622	broad.mit.edu	37	17	10360894	10360894	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:10360894G>A	ENST00000255381.2	-	16	1850	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	580	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACCAGTGAGAAGTGAGCCT	0.532																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1738-1740)ttC>ttT		myosin, heavy chain 4, skeletal muscle							144.0	145.0	145.0					17																	10360894		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360894G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1740C>T	17.37:g.10360894G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.F580F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1850	-			580			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1740C>T	CCDS11154.1																																																																																				0.532	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		108	61	0	0	0	1	0	108	61				
PCSK5	5125	broad.mit.edu	37	9	78774046	78774046	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:78774046G>C	ENST00000545128.1	+	12	2116	c.1578G>C	c.(1576-1578)ctG>ctC	p.L526L	PCSK5_ENST00000376767.3_Silent_p.L526L|PCSK5_ENST00000376752.4_Silent_p.L526L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	526					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATCTACCTGACCTCGCCCT	0.577																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1576-1578)ctG>ctC		proprotein convertase subtilisin/kexin type 5							128.0	101.0	110.0					9																	78774046		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78774046G>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1578G>C	9.37:g.78774046G>C						PCSK5_ENST00000376767.3_Silent_p.L526L|PCSK5_ENST00000376752.4_Silent_p.L526L	p.L526L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			12	2116	+			526			Homo B/P.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1578G>C	CCDS55320.1																																																																																				0.577	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	43	0	0	0	1	0	23	43				
FLG	2312	broad.mit.edu	37	1	152283199	152283199	+	Missense_Mutation	SNP	C	C	A	rs368725307	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152283199C>A	ENST00000368799.1	-	3	4198	c.4163G>T	c.(4162-4164)cGa>cTa	p.R1388L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1388	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4162-4164)cGa>cTa		filaggrin							354.0	337.0	343.0					1																	152283199		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283199C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4163G>T	1.37:g.152283199C>A	ENSP00000357789:p.Arg1388Leu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1388L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4198	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1388			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4163G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252714	0.22965	.	.	ENSG00000143631	ENST00000368799	T	0.05447	3.44	4.01	-5.92	0.02261	.	.	.	.	.	T	0.01870	0.0059	L	0.56769	1.78	0.09310	N	1	P	0.43169	0.8	B	0.42692	0.395	T	0.26052	-1.0114	9	0.10902	T	0.67	.	7.5344	0.27702	0.0:0.2993:0.121:0.5797	.	1388	P20930	FILA_HUMAN	L	1388	ENSP00000357789:R1388L	ENSP00000357789:R1388L	R	-	2	0	FLG	150549823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.746000	0.01829	-1.279000	0.02405	-1.518000	0.00936	CGA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		43	487	1	0	1.00953e-15	1	1.2334e-15	43	487				
SPOP	8405	broad.mit.edu	37	17	47700159	47700159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:47700159G>A	ENST00000393328.2	-	3	379	c.14C>T	c.(13-15)cCa>cTa	p.P5L	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.P5L|SPOP_ENST00000503676.1_Missense_Mutation_p.P5L|SPOP_ENST00000393331.3_Missense_Mutation_p.P5L|SPOP_ENST00000504102.1_Missense_Mutation_p.P5L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	5					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGGAGGACTTGGAACCCTTGA	0.493										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(13-15)cCa>cTa		speckle-type POZ protein							117.0	108.0	111.0					17																	47700159		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47700159G>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.14C>T	17.37:g.47700159G>A	ENSP00000377001:p.Pro5Leu	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.P5L|SPOP_ENST00000503676.1_Missense_Mutation_p.P5L|SPOP_ENST00000393328.2_Missense_Mutation_p.P5L|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.P5L	p.P5L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			4	484	-			5					B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.14C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356667	0.82243	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476;ENST00000508805;ENST00000451526	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.69823	2.125	0.80722	D	1	P	0.41848	0.763	P	0.49597	0.616	T	0.49283	-0.8956	10	0.48119	T	0.1	0.3897	19.1486	0.93479	0.0:0.0:1.0:0.0	.	5	O43791	SPOP_HUMAN	L	5	ENSP00000377001:P5L;ENSP00000377004:P5L;ENSP00000240327:P5L;ENSP00000425905:P5L;ENSP00000420908:P5L;ENSP00000426986:P5L;ENSP00000420960:P5L;ENSP00000426262:P5L;ENSP00000424119:P5L;ENSP00000426537:P5L;ENSP00000425410:P5L	ENSP00000240327:P5L	P	-	2	0	SPOP	45055158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.861000	0.98227	0.650000	0.86243	CCA		0.493	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		4	104	0	0	0	1	0	4	104				
SNHG14	104472715	broad.mit.edu	37	15	25472073	25472073	+	RNA	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:25472073C>G	ENST00000453082.2	+	0	1115				SNORD115-31_ENST00000365318.1_RNA|SNORD115-30_ENST00000364117.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGATGGTGACCCCGGAGGAAA	0.617																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25472073C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25472073C>G								NR_003343.1						0	1115	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.617	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			5	13	0	0	0	1	0	5	13				
TRBV4-1	28617	broad.mit.edu	37	7	142013014	142013014	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142013014C>A	ENST00000390357.3	+	0	8									T cell receptor beta variable 4-1																		GTCAGAGGCCCCATCTCAGAC	0.577																																						ENST00000390357.3																			0																				58.0	64.0	62.0					7																	142013014		1945	4136	6081			28617							g.chr7:142013014C>A	U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013014C>A														0	8	+									RNA	SNP	ENST00000390357.3	37																																																																																						0.577	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351228.2	NG_001333		29	33	1	0	1.99505e-19	1	2.53285e-19	29	33				
AASDH	132949	broad.mit.edu	37	4	57204793	57204793	+	Silent	SNP	C	C	A	rs375638660		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:57204793C>A	ENST00000205214.6	-	15	3252	c.3072G>T	c.(3070-3072)ccG>ccT	p.P1024P	AASDH_ENST00000513376.1_Silent_p.P924P|AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.P539P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1024					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGAAAGCAAACGGTGTTGCAT	0.408																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(3070-3072)ccG>ccT		aminoadipate-semialdehyde dehydrogenase							99.0	94.0	96.0					4																	57204793		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57204793C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3072G>T	4.37:g.57204793C>A						AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Silent_p.P924P|AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.P539P	p.P1024P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			15	3252	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	1024					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.3072G>T	CCDS3504.1																																																																																				0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		26	67	1	0	1.77063e-15	1	2.14979e-15	26	67				
SURF6	6838	broad.mit.edu	37	9	136199074	136199074	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:136199074C>T	ENST00000372022.4	-	5	982	c.717G>A	c.(715-717)ctG>ctA	p.L239L	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	239					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGCGCTCCAGCAGCTGCCGGT	0.672																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(715-717)ctG>ctA		surfeit 6							43.0	48.0	46.0					9																	136199074		2201	4299	6500	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199074C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.717G>A	9.37:g.136199074C>T						SURF6_ENST00000468290.1_5'UTR	p.L239L	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	982	-			239					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.717G>A	CCDS6962.1																																																																																				0.672	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		28	67	0	0	0	1	0	28	67				
SNTG1	54212	broad.mit.edu	37	8	51617248	51617248	+	Missense_Mutation	SNP	G	G	T	rs368294611		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:51617248G>T	ENST00000522124.1	+	16	1788	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	SNTG1_ENST00000517473.1_Missense_Mutation_p.S376I|SNTG1_ENST00000518864.1_Missense_Mutation_p.S376I|SNTG1_ENST00000276467.5_Missense_Mutation_p.S376I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	376	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAGCTGGAAAGTGACCTCGCC	0.557																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1126-1128)aGt>aTt		syntrophin, gamma 1							133.0	107.0	116.0					8																	51617248		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617248G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1127G>T	8.37:g.51617248G>T	ENSP00000429842:p.Ser376Ile					SNTG1_ENST00000518864.1_Missense_Mutation_p.S376I|SNTG1_ENST00000517473.1_Missense_Mutation_p.S376I|SNTG1_ENST00000276467.5_Missense_Mutation_p.S376I	p.S376I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			16	1788	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	376			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1127G>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122070	0.37436	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.19	1.14	0.20703	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.427833	0.32175	N	0.006480	T	0.75466	0.3853	L	0.47190	1.495	0.35659	D	0.81241	P;B	0.36048	0.534;0.181	P;B	0.44860	0.462;0.05	T	0.79736	-0.1678	10	0.56958	D	0.05	.	19.2094	0.93748	0.0:0.6111:0.3889:0.0	.	376;376	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	376	ENSP00000429276:S376I;ENSP00000429842:S376I;ENSP00000431123:S376I;ENSP00000276467:S376I	ENSP00000276467:S376I	S	+	2	0	SNTG1	51779801	1.000000	0.71417	0.105000	0.21289	0.411000	0.31082	2.120000	0.41968	-0.014000	0.14175	-0.189000	0.12847	AGT		0.557	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			20	48	1	0	5.03518e-11	1	5.78848e-11	20	48				
PRPF40A	55660	broad.mit.edu	37	2	153519208	153519208	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:153519208C>A	ENST00000410080.1	-	21	2772	c.2231G>T	c.(2230-2232)cGt>cTt	p.R744L		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	771	FF 6.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AAATCTCTCACGGATCTGAAA	0.294																																						ENST00000410080.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.(2230-2232)cGt>cTt		PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)							36.0	35.0	35.0					2																	153519208		1791	4058	5849	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153519208C>A	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2231G>T	2.37:g.153519208C>A	ENSP00000386458:p.Arg744Leu						p.R744L	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN			21	2772	-			771			FF 5.		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2231G>T	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157647	0.94686	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.27256	1.68	5.55	5.55	0.83447	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.91635	0.988;0.999	T	0.56565	-0.7958	10	0.72032	D	0.01	-8.9674	19.5085	0.95130	0.0:1.0:0.0:0.0	.	771;744	O75400;E9PFS0	PR40A_HUMAN;.	L	744;753;640;695	ENSP00000386458:R744L	ENSP00000348770:R753L	R	-	2	0	PRPF40A	153227454	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.260000	0.78391	2.617000	0.88574	0.555000	0.69702	CGT		0.294	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		8	28	1	0	7.48243e-07	1	8.06225e-07	8	28				
F2RL3	9002	broad.mit.edu	37	19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(1015-1017)atC>atG		coagulation factor II (thrombin) receptor-like 3							36.0	34.0	35.0					19																	17001291		2202	4299	6501	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17001291C>G	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1017C>G	19.37:g.17001291C>G	ENSP00000248076:p.Ile339Met						p.I339M	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	1347	+			339					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.1017C>G	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208791	0.39003	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	4.15	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.552447	0.16885	U	0.195548	T	0.62780	0.2456	M	0.74546	2.27	0.28671	N	0.905616	P	0.42518	0.782	P	0.51101	0.659	T	0.59172	-0.7504	10	0.44086	T	0.13	.	12.6698	0.56860	0.0:0.5188:0.4812:0.0	.	339	Q96RI0	PAR4_HUMAN	M	339	ENSP00000248076:I339M	ENSP00000248076:I339M	I	+	3	3	F2RL3	16862291	0.665000	0.27466	0.838000	0.33150	0.123000	0.20343	-0.160000	0.10041	0.167000	0.19631	0.491000	0.48974	ATC		0.657	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			9	24	0	0	0	1	0	9	24				
LONRF2	164832	broad.mit.edu	37	2	100916302	100916302	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100916302C>T	ENST00000393437.3	-	5	1783	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E139K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	382							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTTTTATCCTCTTCAAAGTGT	0.428																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1144-1146)Gag>Aag		LON peptidase N-terminal domain and ring finger 2							74.0	71.0	72.0					2																	100916302		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916302C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1144G>A	2.37:g.100916302C>T	ENSP00000377086:p.Glu382Lys					LONRF2_ENST00000409647.1_Missense_Mutation_p.E139K	p.E382K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1783	-			382					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1144G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281015	0.59758	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84944	-1.77;-1.92	4.49	4.49	0.54785	.	0.447853	0.23678	N	0.045641	T	0.78729	0.4329	L	0.44542	1.39	0.26550	N	0.973921	B	0.34015	0.435	B	0.28991	0.097	T	0.68663	-0.5349	10	0.23891	T	0.37	-15.5051	15.3791	0.74637	0.0:1.0:0.0:0.0	.	382	Q1L5Z9	LONF2_HUMAN	K	382;139	ENSP00000377086:E382K;ENSP00000386823:E139K	ENSP00000377086:E382K	E	-	1	0	LONRF2	100282734	1.000000	0.71417	0.118000	0.21660	0.664000	0.39144	2.490000	0.45294	2.027000	0.59764	0.555000	0.69702	GAG		0.428	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		34	110	0	0	0	1	0	34	110				
DPP6	1804	broad.mit.edu	37	7	154593115	154593115	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:154593115A>T	ENST00000377770.3	+	13	1491	c.1350A>T	c.(1348-1350)agA>agT	p.R450S	DPP6_ENST00000332007.3_Missense_Mutation_p.R388S|DPP6_ENST00000404039.1_Missense_Mutation_p.R386S|DPP6_ENST00000427557.1_Missense_Mutation_p.R343S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	450					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTCATCAGAGCCATCCCCC	0.483																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1156-1158)agA>agT		dipeptidyl-peptidase 6							60.0	58.0	59.0					7																	154593115		1915	4115	6030	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154593115A>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1350A>T	7.37:g.154593115A>T	ENSP00000367001:p.Arg450Ser					DPP6_ENST00000427557.1_Missense_Mutation_p.R343S|DPP6_ENST00000332007.3_Missense_Mutation_p.R388S|DPP6_ENST00000377770.3_Missense_Mutation_p.R450S	p.R386S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		13	1745	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	450						Missense_Mutation	SNP	ENST00000377770.3	37	c.1158A>T		.	.	.	.	.	.	.	.	.	.	A	17.58	3.425423	0.62733	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.12	5.12	0.69794	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.25144	0.715	0.53005	D	0.999961	P;D;D;D	0.89917	0.599;1.0;1.0;1.0	P;D;D;D	0.97110	0.574;1.0;1.0;1.0	T	0.29243	-1.0018	10	0.66056	D	0.02	-21.1787	7.689	0.28557	0.8394:0.0:0.1606:0.0	.	343;388;450;386	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	S	386;450;388;343	ENSP00000385578:R386S;ENSP00000367001:R450S;ENSP00000328226:R388S;ENSP00000397303:R343S	ENSP00000328226:R388S	R	+	3	2	DPP6	154224048	0.998000	0.40836	0.995000	0.50966	0.561000	0.35649	0.723000	0.25939	1.918000	0.55548	0.533000	0.62120	AGA		0.483	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		4	12	0	0	0	1	0	4	12				
KIAA2022	340533	broad.mit.edu	37	X	73960499	73960499	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:73960499A>G	ENST00000055682.6	-	3	4504	c.3893T>C	c.(3892-3894)aTg>aCg	p.M1298T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1298					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTGGTGCCCATGCTCATATC	0.527																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3892-3894)aTg>aCg		KIAA2022							118.0	105.0	109.0					X																	73960499		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960499A>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3893T>C	X.37:g.73960499A>G	ENSP00000055682:p.Met1298Thr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.M1298T	p.M1298T			Q5QGS0	K2022_HUMAN			3	4544	-			1298					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3893T>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	5.001	0.185861	0.09495	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.27720	1.65;1.65	5.11	5.11	0.69529	.	0.767380	0.13793	N	0.362343	T	0.20373	0.0490	N	0.19112	0.55	0.09310	N	1	B	0.22146	0.065	B	0.16289	0.015	T	0.11060	-1.0603	10	0.46703	T	0.11	0.1001	9.4713	0.38844	0.8401:0.0:0.0:0.1599	.	1298	Q5QGS0	K2022_HUMAN	T	1298	ENSP00000362567:M1298T;ENSP00000055682:M1298T	ENSP00000055682:M1298T	M	-	2	0	KIAA2022	73877224	0.410000	0.25376	0.482000	0.27366	0.848000	0.48234	2.642000	0.46596	1.886000	0.54624	0.486000	0.48141	ATG		0.527	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		30	18	0	0	0	1	0	30	18				
AMER3	205147	broad.mit.edu	37	2	131521072	131521072	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:131521072C>G	ENST00000423981.1	+	2	1537	c.1427C>G	c.(1426-1428)cCt>cGt	p.P476R	AMER3_ENST00000321420.4_Missense_Mutation_p.P476R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	476					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCACCAGGCCCTGACCTGCTC	0.637																																						ENST00000423981.1																			0											c.(1426-1428)cCt>cGt		APC membrane recruitment protein 3							23.0	24.0	24.0					2																	131521072		2203	4299	6502	SO:0001583	missense	205147							g.chr2:131521072C>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1427C>G	2.37:g.131521072C>G	ENSP00000392700:p.Pro476Arg					AMER3_ENST00000321420.4_Missense_Mutation_p.P476R	p.P476R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1537	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1427C>G	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599449	0.28534	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.47528	0.84;0.84	5.16	4.05	0.47172	.	0.305199	0.24014	N	0.042358	T	0.33265	0.0857	L	0.27053	0.805	0.09310	N	1	P	0.47841	0.901	P	0.44696	0.458	T	0.11842	-1.0571	10	0.28530	T	0.3	-19.0771	6.5903	0.22644	0.0:0.8433:0.0:0.1567	.	476	Q8N944	F123C_HUMAN	R	476	ENSP00000314914:P476R;ENSP00000392700:P476R	ENSP00000314914:P476R	P	+	2	0	FAM123C	131237542	0.002000	0.14202	0.376000	0.26042	0.960000	0.62799	1.398000	0.34554	2.571000	0.86741	0.561000	0.74099	CCT		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		15	29	0	0	0	1	0	15	29				
SLC16A13	201232	broad.mit.edu	37	17	6942176	6942176	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:6942176G>T	ENST00000308027.6	+	3	1357	c.1049G>T	c.(1048-1050)aGc>aTc	p.S350I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	350						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATGATAGAGAGCATCGGGGGG	0.577																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(1048-1050)aGc>aTc		solute carrier family 16, member 13							76.0	91.0	86.0					17																	6942176		2203	4295	6498	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6942176G>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.1049G>T	17.37:g.6942176G>T	ENSP00000309751:p.Ser350Ile						p.S350I	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	1357	+			350					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.1049G>T	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535372	0.85812	.	.	ENSG00000174327	ENST00000308027	T	0.60040	0.22	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.75545	-0.3280	10	0.66056	D	0.02	.	16.9043	0.86122	0.0:0.0:1.0:0.0	.	350	Q7RTY0	MOT13_HUMAN	I	350	ENSP00000309751:S350I	ENSP00000309751:S350I	S	+	2	0	SLC16A13	6882900	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.096000	0.76960	2.861000	0.98227	0.650000	0.86243	AGC		0.577	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			94	79	1	0	1.09905e-38	1	1.51378e-38	94	79				
ZNF676	163223	broad.mit.edu	37	19	22362826	22362826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22362826C>A	ENST00000397121.2	-	3	2010	c.1693G>T	c.(1693-1695)Gaa>Taa	p.E565*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.378																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1693-1695)Gaa>Taa		zinc finger protein 676							60.0	63.0	62.0					19																	22362826		2105	4254	6359	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362826C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1693G>T	19.37:g.22362826C>A	ENSP00000380310:p.Glu565*						p.E565*	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	2010	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	565					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1693G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212750	0.79352	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.47183	D	0.999344	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.9133	0.24346	0.0:0.5282:0.4718:0.0	.	.	.	.	X	565	.	ENSP00000380310:E565X	E	-	1	0	ZNF676	22154666	0.000000	0.05858	0.032000	0.17829	0.032000	0.12392	-2.200000	0.01237	0.181000	0.19994	0.184000	0.17185	GAA		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		32	60	1	0	8.88839e-20	1	1.1309e-19	32	60				
FAM196A	642938	broad.mit.edu	37	10	128973751	128973751	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:128973751A>T	ENST00000522781.1	-	4	1464	c.909T>A	c.(907-909)acT>acA	p.T303T	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T303T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	303										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGCCAGGGCAGTTTCCGAGG	0.667																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(907-909)acT>acA		family with sequence similarity 196, member A							35.0	38.0	37.0					10																	128973751		2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973751A>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.909T>A	10.37:g.128973751A>T						FAM196A_ENST00000424811.2_Silent_p.T303T|DOCK1_ENST00000280333.6_Intron	p.T303T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1464	-			303					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.909T>A	CCDS31312.1																																																																																				0.667	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		25	46	0	0	0	1	0	25	46				
SLC30A10	55532	broad.mit.edu	37	1	220089061	220089061	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:220089061T>C	ENST00000366926.3	-	4	1349	c.1188A>G	c.(1186-1188)ttA>ttG	p.L396L	SLC30A10_ENST00000536446.1_Silent_p.L151L|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	396	Poly-Leu.				zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGAGCAACAGTAAGTCCTTCT	0.532																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(1186-1188)ttA>ttG		solute carrier family 30, member 10							103.0	99.0	101.0					1																	220089061		2203	4300	6503	SO:0001819	synonymous_variant	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220089061T>C	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1188A>G	1.37:g.220089061T>C						SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L151L	p.L396L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1349	-			396			Poly-Leu.		Q49AL9|Q9NPW0	Silent	SNP	ENST00000366926.3	37	c.1188A>G	CCDS31026.1																																																																																				0.532	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		57	57	0	0	0	1	0	57	57				
HSCB	150274	broad.mit.edu	37	22	29153084	29153084	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:29153084A>C	ENST00000216027.3	+	6	700	c.635A>C	c.(634-636)aAg>aCg	p.K212T	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	212					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GAAGAAGCCAAGGAAATTTTG	0.323																																						ENST00000216027.3																			0				kidney(1)|lung(2)|skin(1)	4						c.(634-636)aAg>aCg		HscB mitochondrial iron-sulfur cluster co-chaperone							68.0	74.0	72.0					22																	29153084		2203	4300	6503	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29153084A>C	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.635A>C	22.37:g.29153084A>C	ENSP00000216027:p.Lys212Thr					HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	p.K212T	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN			6	700	+			212					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.635A>C	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.740899	0.69304	.	.	ENSG00000100209	ENST00000216027	T	0.44083	0.93	5.07	5.07	0.68467	Heat shock cognate protein B, C-terminal oligomerisation (3);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.64630	1.985	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.59289	-0.7482	10	0.48119	T	0.1	-18.4539	11.5176	0.50532	1.0:0.0:0.0:0.0	.	212	Q8IWL3	HSC20_HUMAN	T	212	ENSP00000216027:K212T	ENSP00000216027:K212T	K	+	2	0	HSCB	27483084	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.233000	0.58651	2.039000	0.60335	0.459000	0.35465	AAG		0.323	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		82	167	0	0	0	1	0	82	167				
OR7D4	125958	broad.mit.edu	37	19	9325343	9325343	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9325343G>A	ENST00000308682.2	-	1	199	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTACATGGGGGTGTGGAGGT	0.557																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(169-171)acC>acT		olfactory receptor, family 7, subfamily D, member 4							80.0	75.0	77.0					19																	9325343		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325343G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.171C>T	19.37:g.9325343G>A							p.T57T	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	199	-			57					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.171C>T	CCDS32901.1																																																																																				0.557	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			30	81	0	0	0	1	0	30	81				
XIRP2	129446	broad.mit.edu	37	2	168100189	168100189	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:168100189G>C	ENST00000409195.1	+	9	2376	c.2287G>C	c.(2287-2289)Gaa>Caa	p.E763Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E763Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E541Q|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	588					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGACGTTGAAAAGGGAGA	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2287-2289)Gaa>Caa		xin actin-binding repeat containing 2							72.0	67.0	68.0					2																	168100189		1856	4088	5944	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100189G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2287G>C	2.37:g.168100189G>C	ENSP00000386840:p.Glu763Gln					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E541Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E763Q|XIRP2_ENST00000409756.2_Intron	p.E763Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2376	+			588					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2287G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322593	0.60634	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02737	4.18;4.18;4.18	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	L	0.35723	1.085	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.97110	0.842;1.0;1.0	T	0.19353	-1.0308	10	0.33940	T	0.23	-23.7244	20.3213	0.98679	0.0:0.0:1.0:0.0	.	588;588;541	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	763;763;541	ENSP00000386840:E763Q;ENSP00000295237:E763Q;ENSP00000387255:E541Q	ENSP00000295237:E763Q	E	+	1	0	XIRP2	167808435	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.612000	0.61169	2.810000	0.96702	0.650000	0.86243	GAA		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	77	0	0	0	1	0	5	77				
WDR17	116966	broad.mit.edu	37	4	177052728	177052728	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177052728A>C	ENST00000280190.4	+	8	1165	c.1009A>C	c.(1009-1011)Aat>Cat	p.N337H	WDR17_ENST00000508596.1_Missense_Mutation_p.N313H|WDR17_ENST00000393643.2_Missense_Mutation_p.N313H|WDR17_ENST00000507824.2_Missense_Mutation_p.N320H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	337										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCAACCAAAAATCATTATAC	0.343																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(937-939)Aat>Cat		WD repeat domain 17							159.0	157.0	158.0					4																	177052728		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052728A>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1009A>C	4.37:g.177052728A>C	ENSP00000280190:p.Asn337His					WDR17_ENST00000507824.2_Missense_Mutation_p.N320H|WDR17_ENST00000280190.4_Missense_Mutation_p.N337H|WDR17_ENST00000508596.1_Missense_Mutation_p.N313H	p.N313H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1189	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	337					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.937A>C	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.67|13.67	2.306491|2.306491	0.40795|0.40795	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.58652	.|0.35;0.37;0.32	5.44|5.44	5.44|5.44	0.79542|0.79542	.|WD40 repeat-like-containing domain (1);	.|0.214311	.|0.47093	.|D	.|0.000244	T|T	0.36468|0.36468	0.0968|0.0968	N|N	0.08118|0.08118	0|0	0.38511|0.38511	D|D	0.948462|0.948462	.|P;P	.|0.48230	.|0.846;0.907	.|B;B	.|0.40009	.|0.316;0.316	T|T	0.44922|0.44922	-0.9296|-0.9296	6|10	0.27082|0.44086	T|T	0.32|0.13	-39.0962|-39.0962	12.1039|12.1039	0.53801|0.53801	0.8717:0.0:0.0:0.1283|0.8717:0.0:0.0:0.1283	.|.	.|313;337	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	N|H	85|313;313;337;320	.|ENSP00000422763:N313H;ENSP00000377258:N313H;ENSP00000280190:N337H	ENSP00000426847:K85N|ENSP00000280190:N337H	K|N	+|+	3|1	2|0	WDR17|WDR17	177289722|177289722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	3.903000|3.903000	0.56318|0.56318	2.196000|2.196000	0.70406|0.70406	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			32	94	0	0	0	1	0	32	94				
WDR49	151790	broad.mit.edu	37	3	167272550	167272550	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:167272550T>A	ENST00000308378.3	-	6	993	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	WDR49_ENST00000476376.1_Missense_Mutation_p.N55Y|WDR49_ENST00000453925.2_Missense_Mutation_p.N283Y|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	230										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCCCAACATTTAGTGTATGG	0.368																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(688-690)Aat>Tat		WD repeat domain 49							144.0	136.0	139.0					3																	167272550		2203	4299	6502	SO:0001583	missense	151790							g.chr3:167272550T>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.688A>T	3.37:g.167272550T>A	ENSP00000311343:p.Asn230Tyr					WDR49_ENST00000476376.1_Missense_Mutation_p.N55Y|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.N283Y	p.N230Y	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			6	993	-			230					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.688A>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.71|14.71	2.617443|2.617443	0.46736|0.46736	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.54675|.	0.56;1.27;2.2|.	5.36|5.36	5.36|5.36	0.76844|0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.389450|.	0.29699|.	N|.	0.011432|.	T|.	0.68723|.	0.3032|.	M|M	0.71581|0.71581	2.175|2.175	0.33221|0.33221	D|D	0.5547|0.5547	D;B|.	0.56521|.	0.976;0.451|.	P;B|.	0.45577|.	0.486;0.079|.	T|.	0.77528|.	-0.2554|.	10|.	0.02654|.	T|.	1|.	.|.	14.3904|14.3904	0.66975|0.66975	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	283;230|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	Y|Y	230;55;283|294	ENSP00000311343:N230Y;ENSP00000420508:N55Y;ENSP00000410863:N283Y|.	ENSP00000311343:N230Y|.	N|X	-|-	1|3	0|2	WDR49|WDR49	168755244|168755244	0.992000|0.992000	0.36948|0.36948	0.573000|0.573000	0.28510|0.28510	0.166000|0.166000	0.22503|0.22503	4.180000|4.180000	0.58296|0.58296	2.042000|2.042000	0.60477|0.60477	0.477000|0.477000	0.44152|0.44152	AAT|TAA		0.368	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		35	112	0	0	0	1	0	35	112				
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955|rs386802916	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:44561319T>C	ENST00000332567.4	-	1	669	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652													C|||	26	0.00519169	0.0015	0.0043	5008	,	,		14505	0.004		0.008	False		,,,				2504	0.0092					ENST00000332567.4																			1	Substitution - Missense(1)	p.Q106R(1)	cervix(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(316-318)cAg>cGg		transcription elongation factor B polypeptide 3B (elongin A2)		C	ARG/GLN,	7,4393		0,7,2193	45.0	52.0	49.0		317,	-3.1	0.0	18	dbSNP_134	49	22,8572		0,22,4275	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	43,	0,29,6468	CC,CT,TT		0.256,0.1591,0.2232	benign,	106/754,	44561319	29,12965	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561319T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.317A>G	18.37:g.44561319T>C	ENSP00000331302:p.Gln106Arg					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	p.Q106R	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	669	-			106					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.317A>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.352	0.433123	0.12045	0.001591	0.00256	ENSG00000206181	ENST00000332567	T	0.07444	3.19	2.28	-3.13	0.05266	.	12.396300	0.00508	N	0.000161	T	0.05960	0.0155	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36432	-0.9748	10	0.25106	T	0.35	-1.7422	8.6283	0.33904	0.0:0.5243:0.0:0.4757	.	106	Q8IYF1	ELOA2_HUMAN	R	106	ENSP00000331302:Q106R	ENSP00000331302:Q106R	Q	-	2	0	TCEB3B	42815317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-1.301000	0.02338	-1.425000	0.01104	CAG		0.652	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		71	58	0	0	0	1	0	71	58				
MORN3	283385	broad.mit.edu	37	12	122107361	122107361	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122107361G>A	ENST00000355329.3	-	1	199	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	10						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAGGGACTCCGACTTTTTTGG	0.617																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(28-30)tCg>tTg		MORN repeat containing 3							124.0	116.0	119.0					12																	122107361		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122107361G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.29C>T	12.37:g.122107361G>A	ENSP00000347486:p.Ser10Leu						p.S10L	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	199	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		10					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.29C>T	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175075	0.38413	.	.	ENSG00000139714	ENST00000355329	T	0.72282	-0.64	5.32	1.24	0.21308	.	0.857574	0.09644	N	0.774564	T	0.61375	0.2342	M	0.63428	1.95	0.09310	N	1	B	0.24368	0.102	B	0.17098	0.017	T	0.49523	-0.8931	10	0.30854	T	0.27	.	3.8335	0.08883	0.2974:0.1822:0.5204:0.0	.	10	Q6PF18	MORN3_HUMAN	L	10	ENSP00000347486:S10L	ENSP00000347486:S10L	S	-	2	0	MORN3	120591744	0.000000	0.05858	0.013000	0.15412	0.284000	0.27059	0.180000	0.16860	0.737000	0.32582	0.462000	0.41574	TCG		0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		11	132	0	0	0	1	0	11	132				
PTGIR	5739	broad.mit.edu	37	19	47127217	47127217	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47127217G>A	ENST00000291294.2	-	2	399	c.266C>T	c.(265-267)cCc>cTc	p.P89L	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P89L	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	89					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GCACAGGGCGGGGCCGCCTCG	0.701																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(265-267)cCc>cTc		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						10.0	12.0	11.0					19																	47127217		2159	4233	6392	SO:0001583	missense	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127217G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.266C>T	19.37:g.47127217G>A	ENSP00000291294:p.Pro89Leu					PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P89L|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron	p.P89L	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	399	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	89						Missense_Mutation	SNP	ENST00000291294.2	37	c.266C>T	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887381	0.17540	.	.	ENSG00000160013	ENST00000291294	T	0.71817	-0.6	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.672061	0.12587	N	0.455898	T	0.59905	0.2228	L	0.28192	0.835	0.09310	N	0.999992	B	0.11235	0.004	B	0.15052	0.012	T	0.44997	-0.9291	10	0.27082	T	0.32	-18.4086	15.244	0.73493	0.0:0.0:1.0:0.0	.	89	P43119	PI2R_HUMAN	L	89	ENSP00000291294:P89L	ENSP00000291294:P89L	P	-	2	0	PTGIR	51819057	0.005000	0.15991	0.058000	0.19502	0.865000	0.49528	1.224000	0.32539	2.451000	0.82905	0.563000	0.77884	CCC		0.701	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			5	9	0	0	0	1	0	5	9				
PRPF38B	55119	broad.mit.edu	37	1	109241261	109241261	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109241261G>T	ENST00000370025.4	+	5	863	c.594G>T	c.(592-594)atG>atT	p.M198I	PRPF38B_ENST00000370021.1_Missense_Mutation_p.M87I	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	198					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GCTGTGTAATGACCATTGGAG	0.373																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(259-261)atG>atT		pre-mRNA processing factor 38B							126.0	122.0	123.0					1																	109241261		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241261G>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.594G>T	1.37:g.109241261G>T	ENSP00000359042:p.Met198Ile					PRPF38B_ENST00000370025.4_Missense_Mutation_p.M198I	p.M87I			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	898	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	198					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.261G>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106166	0.77096	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	L	0.48877	1.53	0.80722	D	1	P	0.37207	0.587	B	0.42112	0.376	T	0.47586	-0.9106	9	0.19147	T	0.46	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	198	Q5VTL8	PR38B_HUMAN	I	198;87	.	ENSP00000359038:M87I	M	+	3	0	PRPF38B	109042784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.714000	0.92807	0.655000	0.94253	ATG		0.373	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		19	46	1	0	5.26018e-13	1	6.20595e-13	19	46				
LINGO2	158038	broad.mit.edu	37	9	27949813	27949813	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:27949813C>A	ENST00000379992.2	-	6	1306	c.857G>T	c.(856-858)aGc>aTc	p.S286I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S286I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	286						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTCAATAGTGCTGATGGGATT	0.507																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(856-858)aGc>aTc		leucine rich repeat and Ig domain containing 2							195.0	183.0	187.0					9																	27949813		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949813C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.857G>T	9.37:g.27949813C>A	ENSP00000369328:p.Ser286Ile					LINGO2_ENST00000308675.3_Missense_Mutation_p.S286I	p.S286I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1306	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	286					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.857G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406356	0.42715	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80909	-1.43;-1.43	6.17	5.28	0.74379	.	0.084614	0.85682	D	0.000000	T	0.77471	0.4135	L	0.60845	1.875	0.52099	D	0.999948	P	0.52463	0.953	B	0.40602	0.334	T	0.78216	-0.2290	9	.	.	.	.	15.6272	0.76870	0.0:0.9346:0.0:0.0653	.	286	Q7L985	LIGO2_HUMAN	I	286	ENSP00000369328:S286I;ENSP00000310126:S286I	.	S	-	2	0	LINGO2	27939813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	1.632000	0.50472	-0.140000	0.14226	AGC		0.507	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		38	39	1	0	9.45814e-24	1	1.24125e-23	38	39				
OTOGL	283310	broad.mit.edu	37	12	80704456	80704456	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:80704456G>C	ENST00000547103.1	+	29	3378	c.3372G>C	c.(3370-3372)aaG>aaC	p.K1124N	OTOGL_ENST00000458043.2_Missense_Mutation_p.K1124N			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1124	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTATGCCAAGAAAGAATGCT	0.333																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3370-3372)aaG>aaC		otogelin-like							148.0	141.0	143.0					12																	80704456		1857	4095	5952	SO:0001583	missense	283310							g.chr12:80704456G>C	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3372G>C	12.37:g.80704456G>C	ENSP00000447211:p.Lys1124Asn					OTOGL_ENST00000547103.1_Missense_Mutation_p.K1124N	p.K1124N	NM_173591.3	NP_775862.3					29	3378	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3372G>C		.	.	.	.	.	.	.	.	.	.	G	18.37	3.609350	0.66558	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.76839	-1.05;-1.05	6.06	3.2	0.36748	.	.	.	.	.	T	0.75700	0.3885	L	0.49640	1.575	0.48341	D	0.999637	.	.	.	.	.	.	T	0.72959	-0.4133	7	0.52906	T	0.07	.	6.1158	0.20126	0.4703:0.0:0.5297:0.0	.	.	.	.	N	1124	ENSP00000447211:K1124N;ENSP00000400895:K1124N	ENSP00000400895:K1124N	K	+	3	2	OTOGL	79228587	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	1.410000	0.34691	0.849000	0.35215	0.650000	0.86243	AAG		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		5	51	0	0	0	1	0	5	51				
OR1K1	392392	broad.mit.edu	37	9	125563199	125563199	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125563199A>T	ENST00000277309.2	+	1	830	c.798A>T	c.(796-798)cgA>cgT	p.R266R		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCACATCCCGACGCGAGGCAG	0.602																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(796-798)cgA>cgT		olfactory receptor, family 1, subfamily K, member 1							115.0	104.0	108.0					9																	125563199		2203	4299	6502	SO:0001819	synonymous_variant	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563199A>T	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.798A>T	9.37:g.125563199A>T							p.R266R	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	830	+			266					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.798A>T	CCDS35132.1																																																																																				0.602	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			45	124	0	0	0	1	0	45	124				
RBM5	10181	broad.mit.edu	37	3	50142980	50142980	+	Splice_Site	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:50142980A>G	ENST00000347869.3	+	10	869		c.e10-1			NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTACCCCTAGCGATCATTC	0.443																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.e10-1		RNA binding motif protein 5							204.0	154.0	171.0					3																	50142980		2203	4300	6503	SO:0001630	splice_region_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50142980A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.695-1A>G	3.37:g.50142980A>G								NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	869	+								B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Splice_Site	SNP	ENST00000347869.3	37		CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	36	5.618878	0.96649	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM5	50117984	1.000000	0.71417	0.991000	0.47740	0.771000	0.43674	7.352000	0.79404	2.371000	0.80710	0.533000	0.62120	.		0.443	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	Intron	58	76	0	0	0	1	0	58	76				
NR4A2	4929	broad.mit.edu	37	2	157182791	157182791	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:157182791G>A	ENST00000339562.4	-	7	1773	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	NR4A2_ENST00000409572.1_Missense_Mutation_p.H471Y|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000426264.1_Missense_Mutation_p.H408Y|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000539077.1_Missense_Mutation_p.H482Y	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	471					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGCAACCTGTGCAAGACCACC	0.453																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1411-1413)Cac>Tac		nuclear receptor subfamily 4, group A, member 2							113.0	91.0	98.0					2																	157182791		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182791G>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1411C>T	2.37:g.157182791G>A	ENSP00000344479:p.His471Tyr					NR4A2_ENST00000426264.1_Missense_Mutation_p.H408Y|NR4A2_ENST00000539077.1_Missense_Mutation_p.H482Y|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.H471Y	p.H471Y	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			7	1773	-			471					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1411C>T	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707477	0.48412	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.65320	2	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.66011	-0.6029	10	0.87932	D	0	.	14.8347	0.70175	0.0:0.0:0.8561:0.1439	.	471	P43354	NR4A2_HUMAN	Y	471;408;471;482	ENSP00000344479:H471Y;ENSP00000389986:H408Y;ENSP00000386747:H471Y;ENSP00000444925:H482Y	ENSP00000344479:H471Y	H	-	1	0	NR4A2	156891037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	CAC		0.453	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			21	47	0	0	0	1	0	21	47				
RGS9	8787	broad.mit.edu	37	17	63164373	63164373	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:63164373G>A	ENST00000262406.9	+	8	623	c.556G>A	c.(556-558)Gca>Aca	p.A186T	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000449996.3_Missense_Mutation_p.A186T|RGS9_ENST00000443584.3_Missense_Mutation_p.A186T	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	186					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGGAGAAGGCATACTGGCT	0.562																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(556-558)Gca>Aca		regulator of G-protein signaling 9							75.0	90.0	85.0					17																	63164373		2086	4206	6292	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63164373G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.556G>A	17.37:g.63164373G>A	ENSP00000262406:p.Ala186Thr					RGS9_ENST00000262406.9_Missense_Mutation_p.A186T|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.A186T	p.A186T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			8	628	+			186					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.556G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791529	0.50102	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.60548	0.18;0.23;0.2	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	L	0.58583	1.82	0.53688	D	0.999972	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	T	0.72899	-0.4152	10	0.49607	T	0.09	.	15.7005	0.77538	0.0:0.0:1.0:0.0	.	186;186;186	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	T	186	ENSP00000262406:A186T;ENSP00000396329:A186T;ENSP00000405814:A186T	ENSP00000262406:A186T	A	+	1	0	RGS9	60594835	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.605000	0.82844	2.432000	0.82394	0.561000	0.74099	GCA		0.562	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		3	26	0	0	0	1	0	3	26				
MYOM1	8736	broad.mit.edu	37	18	3155075	3155075	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:3155075C>G	ENST00000356443.4	-	11	1846	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	MYOM1_ENST00000400569.3_Missense_Mutation_p.E505Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.E505Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	505					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTCAATCTCTGCATCAGCA	0.527																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1513-1515)Gag>Cag		myomesin 1							45.0	46.0	45.0					18																	3155075		2001	4160	6161	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3155075C>G	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1513G>C	18.37:g.3155075C>G	ENSP00000348821:p.Glu505Gln					MYOM1_ENST00000261606.7_Missense_Mutation_p.E505Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.E505Q	p.E505Q			P52179	MYOM1_HUMAN			11	1846	-			505					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1513G>C	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328794	0.81690	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.92;0.92;0.77	4.88	4.88	0.63580	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.68593	2.085	0.54753	D	0.99998	D;D	0.65815	0.987;0.995	D;P	0.65573	0.936;0.886	T	0.58059	-0.7703	10	0.13853	T	0.58	.	18.2214	0.89903	0.0:1.0:0.0:0.0	.	505;505	P52179-2;P52179	.;MYOM1_HUMAN	Q	505	ENSP00000348821:E505Q;ENSP00000383413:E505Q;ENSP00000261606:E505Q	ENSP00000261606:E505Q	E	-	1	0	MYOM1	3145075	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.845000	0.69437	2.528000	0.85240	0.650000	0.86243	GAG		0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		26	17	0	0	0	1	0	26	17				
HAS3	3038	broad.mit.edu	37	16	69148737	69148737	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:69148737C>T	ENST00000306560.1	+	4	1386	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.L410L	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGAACATTCTCCTCTTCCTGC	0.547																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1228-1230)ctC>ctT		hyaluronan synthase 3							116.0	109.0	111.0					16																	69148737		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148737C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1230C>T	16.37:g.69148737C>T						HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.L410L	p.L410L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1386	+		Ovarian(137;0.101)	410					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.1230C>T	CCDS10871.1																																																																																				0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		49	130	0	0	0	1	0	49	130				
FAM83G	644815	broad.mit.edu	37	17	18907342	18907342	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:18907342G>C	ENST00000388995.6	-	2	236	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q5E|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q5E|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	5					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CACTGCACCTGAGAGAAGGCC	0.692																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(13-15)Cag>Gag		family with sequence similarity 83, member G							23.0	26.0	25.0					17																	18907342		2055	4191	6246	SO:0001583	missense	644815							g.chr17:18907342G>C	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.13C>G	17.37:g.18907342G>C	ENSP00000373647:p.Gln5Glu					SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q5E|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q5E|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron	p.Q5E			A6ND36	FA83G_HUMAN			2	236	-			5					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.13C>G	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045726	0.55110	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.27256	1.68;1.68	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.79693	2.465	0.58432	D	0.999999	D	0.64830	0.994	D	0.70716	0.97	T	0.60964	-0.7158	10	0.72032	D	0.01	-28.2025	18.6062	0.91266	0.0:0.0:1.0:0.0	.	5	A6ND36	FA83G_HUMAN	E	5	ENSP00000373647:Q5E;ENSP00000343279:Q5E	ENSP00000343279:Q5E	Q	-	1	0	FAM83G	18848067	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	9.665000	0.98609	2.416000	0.81992	0.485000	0.47835	CAG		0.692	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	57	0	0	0	1	0	4	57				
MAP2	4133	broad.mit.edu	37	2	210558199	210558199	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:210558199T>A	ENST00000360351.4	+	7	1811	c.1305T>A	c.(1303-1305)ctT>ctA	p.L435L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.L431L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	435					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)			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)	AACCTATACTTACTGAAAAGG	0.428																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(1303-1305)ctT>ctA		microtubule-associated protein 2	Estramustine(DB01196)						72.0	75.0	74.0					2																	210558199		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.chr2:210558199T>A		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.1305T>A	2.37:g.210558199T>A						MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L431L|MAP2_ENST00000392194.1_Intron	p.L435L	NM_002374.3	NP_002365.3	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	1811	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	435					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.1305T>A	CCDS2384.1																																																																																				0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		4	83	0	0	0	1	0	4	83				
ATIC	471	broad.mit.edu	37	2	216214289	216214289	+	Missense_Mutation	SNP	G	G	T	rs149999349		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:216214289G>T	ENST00000236959.9	+	16	2016	c.1690G>T	c.(1690-1692)Ggt>Tgt	p.G564C	ATIC_ENST00000540518.1_Missense_Mutation_p.G505C|ATIC_ENST00000435675.1_Missense_Mutation_p.G563C	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	564					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.G564S(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GGCTCCCTCCGGTTCTGCTGC	0.483			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	1	Substitution - Missense(1)	p.G564S(1)	large_intestine(1)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1687-1689)Ggt>Tgt		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						144.0	127.0	133.0					2																	216214289		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216214289G>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1690G>T	2.37:g.216214289G>T	ENSP00000236959:p.Gly564Cys					ATIC_ENST00000236959.9_Missense_Mutation_p.G564C|ATIC_ENST00000540518.1_Missense_Mutation_p.G505C	p.G563C			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	15	2078	+		Renal(323;0.229)	564					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1687G>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325825	0.81580	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	6.16	6.16	0.99307	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98768	1.0727	10	0.87932	D	0	-16.1112	20.8598	0.99761	0.0:0.0:1.0:0.0	.	563;564	E9PBU3;P31939	.;PUR9_HUMAN	C	564;505;563;79	ENSP00000236959:G564C;ENSP00000440523:G505C;ENSP00000415935:G563C;ENSP00000391399:G79C	ENSP00000236959:G564C	G	+	1	0	ATIC	215922534	1.000000	0.71417	0.915000	0.36163	0.274000	0.26718	9.750000	0.98875	2.937000	0.99478	0.650000	0.86243	GGT		0.483	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		28	68	1	0	7.65355e-07	1	8.23145e-07	28	68				
C15orf27	123591	broad.mit.edu	37	15	76496319	76496319	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76496319C>G	ENST00000388942.3	+	11	1535	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	420					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAGCCGTCCTCTGAGCCCGGC	0.701																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(1258-1260)tCt>tGt		chromosome 15 open reading frame 27							20.0	22.0	21.0					15																	76496319		2196	4290	6486	SO:0001583	missense	123591					integral to membrane		g.chr15:76496319C>G	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1259C>G	15.37:g.76496319C>G	ENSP00000373594:p.Ser420Cys						p.S420C	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			11	1535	+			420					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1259C>G	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687322	0.29962	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.9	2.0	0.26442	.	0.405345	0.25386	N	0.031042	T	0.45236	0.1332	L	0.51422	1.61	0.39397	D	0.966527	D;D	0.71674	0.998;0.963	P;P	0.61592	0.891;0.694	T	0.38845	-0.9642	10	0.87932	D	0	-15.909	7.4373	0.27162	0.0:0.7247:0.0:0.2753	.	384;420	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	C	420	ENSP00000373594:S420C	ENSP00000373594:S420C	S	+	2	0	C15orf27	74283374	0.982000	0.34865	0.010000	0.14722	0.053000	0.15095	2.672000	0.46850	0.135000	0.18707	0.455000	0.32223	TCT		0.701	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		9	24	0	0	0	1	0	9	24				
FBF1	85302	broad.mit.edu	37	17	73929084	73929084	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73929084C>G	ENST00000586717.1	-	4	390	c.117G>C	c.(115-117)gcG>gcC	p.A39A	FBF1_ENST00000319129.5_Silent_p.A39A|FBF1_ENST00000389570.4_Silent_p.A39A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	39					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTTTGTTCTCGCCTTTGAAG	0.473																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(115-117)gcG>gcC		Fas (TNFRSF6) binding factor 1							72.0	69.0	70.0					17																	73929084		1910	4138	6048	SO:0001819	synonymous_variant	85302							g.chr17:73929084C>G	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.117G>C	17.37:g.73929084C>G						FBF1_ENST00000389570.4_Silent_p.A39A|FBF1_ENST00000319129.5_Silent_p.A39A	p.A39A			A6NLR5	A6NLR5_HUMAN			4	390	-			39					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.117G>C																																																																																					0.473	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		21	21	0	0	0	1	0	21	21				
AFF3	3899	broad.mit.edu	37	2	100210184	100210184	+	Missense_Mutation	SNP	A	A	T	rs555124160		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100210184A>T	ENST00000409236.2	-	13	2051	c.1939T>A	c.(1939-1941)Tgc>Agc	p.C647S	AFF3_ENST00000356421.2_Missense_Mutation_p.C672S|AFF3_ENST00000317233.4_Missense_Mutation_p.C647S|AFF3_ENST00000409579.1_Missense_Mutation_p.C672S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	647					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGCTTCTCGCAGGTCACGGAG	0.637																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1939-1941)Tgc>Agc		AF4/FMR2 family, member 3							52.0	56.0	55.0					2																	100210184		2202	4300	6502	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210184A>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1939T>A	2.37:g.100210184A>T	ENSP00000387207:p.Cys647Ser					AFF3_ENST00000409579.1_Missense_Mutation_p.C672S|AFF3_ENST00000356421.2_Missense_Mutation_p.C672S|AFF3_ENST00000409236.1_Missense_Mutation_p.C647S	p.C647S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2174	-			647					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1939T>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	8.092	0.774831	0.16051	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.17	2.66	0.31614	.	0.458596	0.21408	N	0.075037	T	0.34600	0.0903	N	0.17082	0.46	0.09310	N	0.999998	P;B;B	0.35226	0.491;0.032;0.065	B;B;B	0.28916	0.096;0.033;0.015	T	0.12811	-1.0533	10	0.13853	T	0.58	.	11.9549	0.52976	0.5474:0.4526:0.0:0.0	.	800;647;672	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	S	647;672;672;647;647;800;672	ENSP00000317421:C647S;ENSP00000348793:C672S;ENSP00000386834:C672S;ENSP00000387207:C647S	ENSP00000317421:C647S	C	-	1	0	AFF3	99576616	0.126000	0.22350	0.560000	0.28344	0.689000	0.40095	0.544000	0.23253	0.258000	0.21686	0.459000	0.35465	TGC		0.637	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		32	46	0	0	0	1	0	32	46				
SCN4A	6329	broad.mit.edu	37	17	62018796	62018796	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:62018796C>T	ENST00000435607.1	-	24	4922	c.4846G>A	c.(4846-4848)Gac>Aac	p.D1616N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1616N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1616					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTCAAAGTCATCTTCACCA	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4846-4848)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						61.0	68.0	66.0					17																	62018796		2194	4284	6478	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018796C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4846G>A	17.37:g.62018796C>T	ENSP00000396320:p.Asp1616Asn					SCN4A_ENST00000435607.1_Missense_Mutation_p.D1616N	p.D1616N			P35499	SCN4A_HUMAN			24	4922	-			1616					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4846G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887616	0.72410	.	.	ENSG00000007314	ENST00000435607	D	0.96830	-4.14	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99497	1.0952	10	0.87932	D	0	.	15.4415	0.75187	0.0:1.0:0.0:0.0	.	1616	P35499	SCN4A_HUMAN	N	1616	ENSP00000396320:D1616N	ENSP00000396320:D1616N	D	-	1	0	SCN4A	59372528	1.000000	0.71417	0.994000	0.49952	0.469000	0.32828	7.609000	0.82925	2.180000	0.69256	0.561000	0.74099	GAC		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		29	140	0	0	0	1	0	29	140				
IGF2BP3	10643	broad.mit.edu	37	7	23509711	23509711	+	Missense_Mutation	SNP	C	C	T	rs267601464		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23509711C>T	ENST00000258729.3	-	1	375	c.19G>A	c.(19-21)Gga>Aga	p.G7R	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	7	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTGAGGTTTCCGATATACAGT	0.478																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(19-21)Gga>Aga		insulin-like growth factor 2 mRNA binding protein 3							73.0	84.0	80.0					7																	23509711		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23509711C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.19G>A	7.37:g.23509711C>T	ENSP00000258729:p.Gly7Arg						p.G7R	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			1	375	-			7			RRM 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.19G>A	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155106	0.78114	.	.	ENSG00000136231	ENST00000258729	T	0.10573	2.86	4.09	3.2	0.36748	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.23249	0.0562	L	0.42008	1.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-10.0354	11.2892	0.49239	0.0:0.9089:0.0:0.091	.	7	O00425	IF2B3_HUMAN	R	7	ENSP00000258729:G7R	ENSP00000258729:G7R	G	-	1	0	IGF2BP3	23476236	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.403000	0.79983	0.681000	0.31386	0.557000	0.71058	GGA		0.478	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		48	102	0	0	0	1	0	48	102				
ZNF555	148254	broad.mit.edu	37	19	2853584	2853584	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:2853584C>G	ENST00000334241.4	+	4	1659	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	ZNF555_ENST00000591539.1_Silent_p.L506L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGAAACTCTATAAATGCA	0.408																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1519-1521)ctC>ctG		zinc finger protein 555							120.0	111.0	114.0					19																	2853584		2203	4300	6503	SO:0001819	synonymous_variant	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853584C>G	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1521C>G	19.37:g.2853584C>G						AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.L506L	p.L507L	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1659	+			507					A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	ENST00000334241.4	37	c.1521C>G	CCDS12096.1																																																																																				0.408	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		26	87	0	0	0	1	0	26	87				
EML2	24139	broad.mit.edu	37	19	46124584	46124584	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:46124584C>G	ENST00000245925.3	-	11	1053	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	EML2_ENST00000589876.1_Missense_Mutation_p.E335Q|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Missense_Mutation_p.E536Q|EML2_ENST00000536630.1_Missense_Mutation_p.E482Q	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	335	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAAAGTCCTCAGGGACCTGG	0.632																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1444-1446)Gag>Cag		echinoderm microtubule associated protein like 2							90.0	86.0	87.0					19																	46124584		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124584C>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1003G>C	19.37:g.46124584C>G	ENSP00000245925:p.Glu335Gln					EML2_ENST00000587152.1_Missense_Mutation_p.E536Q|EML2_ENST00000245925.3_Missense_Mutation_p.E335Q|EML2_ENST00000589876.1_Missense_Mutation_p.E335Q	p.E482Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	14	1582	-		Ovarian(192;0.179)|all_neural(266;0.224)	335					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1444G>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289568	0.40494	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.30182	1.54;1.65;5.01	3.42	3.42	0.39159	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.060274	0.64402	D	0.000005	T	0.48040	0.1478	M	0.75615	2.305	0.58432	D	0.999991	D;P;P;D	0.62365	0.975;0.929;0.457;0.991	P;P;B;P	0.58721	0.821;0.69;0.193;0.844	T	0.51442	-0.8705	9	.	.	.	-22.4137	12.3539	0.55163	0.0:1.0:0.0:0.0	.	335;501;482;335	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	Q	482;335;493	ENSP00000442365:E482Q;ENSP00000245925:E335Q;ENSP00000382503:E493Q	.	E	-	1	0	EML2	50816424	1.000000	0.71417	0.950000	0.38849	0.193000	0.23685	5.384000	0.66225	1.740000	0.51718	0.407000	0.27541	GAG		0.632	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		5	87	0	0	0	1	0	5	87				
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	G	rs148031312		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5079889C>G	ENST00000321522.2	-	1	968	c.969G>C	c.(967-969)acG>acC	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(967-969)acG>acC		olfactory receptor, family 52, subfamily E, member 2							54.0	56.0	56.0					11																	5079889		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5079889C>G	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.969G>C	11.37:g.5079889C>G							p.T323T	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	968	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	323						Silent	SNP	ENST00000321522.2	37	c.969G>C	CCDS31371.1																																																																																				0.318	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		21	30	0	0	0	1	0	21	30				
BAI3	577	broad.mit.edu	37	6	70048882	70048882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:70048882C>A	ENST00000370598.1	+	25	4084	c.3263C>A	c.(3262-3264)tCa>tAa	p.S1088*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.S52*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.S294*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1088					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGCTTTGTCAGCCACCACC	0.418																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3262-3264)tCa>tAa		brain-specific angiogenesis inhibitor 3							136.0	136.0	136.0					6																	70048882		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70048882C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3263C>A	6.37:g.70048882C>A	ENSP00000359630:p.Ser1088*					BAI3_ENST00000546190.1_Nonsense_Mutation_p.S52*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.S294*	p.S1088*	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			25	4084	+		all_lung(197;0.212)	1088					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.3263C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	37	6.340974	0.97489	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	1088;294;52	.	ENSP00000238918:S294X	S	+	2	0	BAI3	70105603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	TCA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			65	120	1	0	3.36121e-32	1	4.58632e-32	65	120				
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7579485C>A	ENST00000269305.4	-	4	391	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAGCAGCCTCTGGCATTCTG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		32	Substitution - Nonsense(10)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)	lung(7)|breast(5)|liver(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(202-204)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							112.0	119.0	116.0					17																	7579485		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579485C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.202G>T	17.37:g.7579485C>A	ENSP00000269305:p.Glu68*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*	p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	334	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	68		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.202G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762783	0.49574	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.66	0.49	0.16861	.	1.646800	0.04867	N	0.445250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	0.0106	5.9189	0.19070	0.0:0.6483:0.0:0.3517	.	.	.	.	X	68	.	ENSP00000269305:E68X	E	-	1	0	TP53	7520210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.023000	0.13533	0.156000	0.19299	0.561000	0.74099	GAG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		154	92	1	0	3.11347e-79	1	4.33953e-79	154	92				
PHKA1	5255	broad.mit.edu	37	X	71802361	71802361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:71802361C>A	ENST00000373542.4	-	31	3544	c.3385G>T	c.(3385-3387)Gaa>Taa	p.E1129*	PHKA1_ENST00000373545.3_Nonsense_Mutation_p.E1087*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E1116*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E1146*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E1057*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1129					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGATGGCTTCAACCAGCAGC	0.443																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3259-3261)Gaa>Taa		phosphorylase kinase, alpha 1 (muscle)							106.0	81.0	90.0					X																	71802361		2203	4300	6503	SO:0001587	stop_gained	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71802361C>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3385G>T	X.37:g.71802361C>A	ENSP00000362643:p.Glu1129*					PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E1057*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E1146*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E1116*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E1129*	p.E1087*			P46020	KPB1_HUMAN			31	3697	-	Renal(35;0.156)		1129					B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	c.3259G>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	45	11.816540	0.99606	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.377	15.0152	0.71578	0.0:1.0:0.0:0.0	.	.	.	.	X	1087;1129;1057;1116;1146	.	ENSP00000342469:E1116X	E	-	1	0	PHKA1	71719086	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.734000	0.84928	2.132000	0.65825	0.594000	0.82650	GAA		0.443	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			6	28	1	0	0.0293803	1	0.029583	6	28				
TSPAN5	10098	broad.mit.edu	37	4	99408023	99408023	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:99408023T>G	ENST00000305798.3	-	3	547	c.145A>C	c.(145-147)Aac>Cac	p.N49H	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	49					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GAAGAGATGTTGGACAGAACT	0.498																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(145-147)Aac>Cac		tetraspanin 5							132.0	128.0	129.0					4																	99408023		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99408023T>G		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.145A>C	4.37:g.99408023T>G	ENSP00000307701:p.Asn49His					TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	p.N49H	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	3	547	-			49					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.145A>C	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661402	0.88154	.	.	ENSG00000168785	ENST00000305798	T	0.79554	-1.28	5.54	5.54	0.83059	.	0.080734	0.85682	D	0.000000	D	0.86289	0.5897	L	0.49256	1.55	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	D	0.86678	0.1915	10	0.52906	T	0.07	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	49	P62079	TSN5_HUMAN	H	49	ENSP00000307701:N49H	ENSP00000307701:N49H	N	-	1	0	TSPAN5	99627046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.708000	0.84633	2.326000	0.78906	0.533000	0.62120	AAC		0.498	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		24	80	0	0	0	1	0	24	80				
TRBC2	28638	broad.mit.edu	37	7	142499042	142499042	+	RNA	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142499042G>A	ENST00000466254.1	+	0	318							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTCGGAGAATGACGAGTGGAC	0.632																																						ENST00000466254.1																			0																				77.0	82.0	81.0					7																	142499042		1984	4157	6141			28638							g.chr7:142499042G>A	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499042G>A														0	318	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.632	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		29	186	0	0	0	1	0	29	186				
U2AF1L4	199746	broad.mit.edu	37	19	36236089	36236089	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:36236089C>G	ENST00000412391.2	-	2	82	c.69G>C	c.(67-69)aaG>aaC	p.K23N	IGFLR1_ENST00000592537.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|AD000671.6_ENST00000589807.1_Missense_Mutation_p.K23N|PSENEN_ENST00000587708.2_5'UTR|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.K23N|IGFLR1_ENST00000588992.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.K23N|U2AF1L4_ENST00000588100.1_Splice_Site|PSENEN_ENST00000222266.2_5'Flank|AC002398.11_ENST00000585365.1_RNA|AC002398.11_ENST00000591091.1_RNA			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	23					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGACCCCGATCTTAAAGTAAA	0.617																																						ENST00000589807.1																			0											c.(67-69)aaG>aaC									38.0	46.0	44.0					19																	36236089		2203	4300	6503	SO:0001583	missense	0							g.chr19:36236089C>G	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.69G>C	19.37:g.36236089C>G	ENSP00000397645:p.Lys23Asn					U2AF1L4_ENST00000378975.3_Missense_Mutation_p.K23N|PSENEN_ENST00000587708.2_5'UTR|U2AF1L4_ENST00000412391.2_Missense_Mutation_p.K23N|U2AF1L4_ENST00000588100.1_Splice_Site|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.K23N	p.K23N							2	109	-								A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37	c.69G>C		.	.	.	.	.	.	.	.	.	.	C	14.92	2.678711	0.47886	.	.	ENSG00000161265	ENST00000292879;ENST00000378975;ENST00000412391	T;T;T	0.51574	0.7;0.7;0.7	5.41	3.28	0.37604	.	0.625137	0.14966	N	0.288077	T	0.64994	0.2649	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.63010	-0.6732	9	0.59425	D	0.04	-7.1252	8.2982	0.31997	0.156:0.7626:0.0:0.0814	.	23;23	Q8WU68-2;Q8WU68-3	.;.	N	23	ENSP00000292879:K23N;ENSP00000368258:K23N;ENSP00000397645:K23N	ENSP00000292879:K23N	K	-	3	2	U2AF1L4	40927929	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	0.757000	0.26433	0.840000	0.34995	-0.196000	0.12772	AAG		0.617	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		6	58	0	0	0	1	0	6	58				
ZCCHC14	23174	broad.mit.edu	37	16	87446152	87446152	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:87446152G>C	ENST00000268616.4	-	12	1981	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	588							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GACCAAAGGAGACTGTGGGTG	0.647																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1762-1764)gtC>gtG		zinc finger, CCHC domain containing 14							44.0	50.0	48.0					16																	87446152		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446152G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1764C>G	16.37:g.87446152G>C							p.V588V	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1981	-			588					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1764C>G	CCDS10961.1																																																																																				0.647	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	62	0	0	0	1	0	4	62				
PON1	5444	broad.mit.edu	37	7	94937343	94937343	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:94937343G>A	ENST00000222381.3	-	6	909	c.678C>T	c.(676-678)atC>atT	p.I226I	PON1_ENST00000542556.1_Silent_p.I226I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	226					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GTGAAATGTTGATTCCATTAG	0.383																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(676-678)atC>atT		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						120.0	101.0	108.0					7																	94937343		2203	4300	6503	SO:0001819	synonymous_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937343G>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.678C>T	7.37:g.94937343G>A						PON1_ENST00000542556.1_Silent_p.I226I	p.I226I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	909	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		226					B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	c.678C>T	CCDS5638.1																																																																																				0.383	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		32	121	0	0	0	1	0	32	121				
MC1R	4157	broad.mit.edu	37	16	89986156	89986156	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:89986156G>A	ENST00000555147.1	+	1	1870	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000556922.1_Missense_Mutation_p.A164T|MC1R_ENST00000555427.1_Missense_Mutation_p.A164T	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	164				A -> R (in Ref. 3). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCGCGGCGAGCCGTTGCGGC	0.647									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(490-492)Gcc>Acc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							45.0	52.0	50.0					16																	89986156		2194	4295	6489	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986156G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.490G>A	16.37:g.89986156G>A	ENSP00000451605:p.Ala164Thr					MC1R_ENST00000555147.1_Missense_Mutation_p.A164T|TUBB3_ENST00000556922.1_Missense_Mutation_p.A164T	p.A164T						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2793	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.490G>A	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589150	0.46110	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.37752	1.18;1.18;1.18	4.81	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	2.205580	0.02655	N	0.106914	T	0.52338	0.1728	L	0.55990	1.75	0.09310	N	1	P	0.37061	0.58	P	0.52386	0.697	T	0.33574	-0.9863	9	.	.	.	.	8.2091	0.31473	0.2811:0.0:0.7189:0.0	.	164	Q01726	MSHR_HUMAN	T	164	ENSP00000451760:A164T;ENSP00000451560:A164T;ENSP00000451605:A164T	.	A	+	1	0	MC1R;RP11-566K11.2	88513657	0.026000	0.19158	0.000000	0.03702	0.004000	0.04260	2.451000	0.44952	0.459000	0.27016	0.455000	0.32223	GCC		0.647	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		25	43	0	0	0	1	0	25	43				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389885	52389885	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:52389885T>C	ENST00000443374.2	+	0	1074				RP11-50E11.3_ENST00000609579.1_RNA																							ATTCAGTATGTATGCTGGGTC	0.403																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52389885T>C																													10.37:g.52389885T>C														0	578	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.403	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			8	24	0	0	0	1	0	8	24				
FGL2	10875	broad.mit.edu	37	7	76828974	76828974	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:76828974C>T	ENST00000248598.5	-	1	169	c.137G>A	c.(136-138)aGa>aAa	p.R46K	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	46						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCATTTCCCTCTGCTTTCTAG	0.498																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(136-138)aGa>aAa		fibrinogen-like 2							122.0	118.0	119.0					7																	76828974		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828974C>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.137G>A	7.37:g.76828974C>T	ENSP00000248598:p.Arg46Lys					CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	p.R46K	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	169	-			46						Missense_Mutation	SNP	ENST00000248598.5	37	c.137G>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	0.919	-0.716518	0.03206	.	.	ENSG00000127951	ENST00000248598	T	0.56444	0.46	5.38	0.234	0.15390	.	0.879714	0.10553	N	0.661265	T	0.31575	0.0801	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24905	-1.0147	10	0.09084	T	0.74	.	5.9161	0.19055	0.1055:0.4824:0.3107:0.1013	.	46	Q14314	FGL2_HUMAN	K	46	ENSP00000248598:R46K	ENSP00000248598:R46K	R	-	2	0	FGL2	76666910	.	.	0.060000	0.19600	0.427000	0.31564	.	.	0.050000	0.15949	0.655000	0.94253	AGA		0.498	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		12	151	0	0	0	1	0	12	151				
ANK2	287	broad.mit.edu	37	4	114294539	114294539	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:114294539G>A	ENST00000357077.4	+	45	11846	c.11793G>A	c.(11791-11793)gaG>gaA	p.E3931E	ANK2_ENST00000510275.2_Silent_p.E529E|ANK2_ENST00000509550.1_Silent_p.E1022E|ANK2_ENST00000506722.1_Silent_p.E1837E|ANK2_ENST00000264366.6_Silent_p.E3898E|ANK2_ENST00000394537.3_Silent_p.E1846E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3931			E -> K (in LQT4; loss of function; dbSNP:rs45454496). {ECO:0000269|PubMed:15178757}.		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)		TCAACATCGAGGAAGGGGATG	0.443																																						ENST00000357077.4																			0				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						c.(11791-11793)gaG>gaA		ankyrin 2, neuronal							116.0	111.0	112.0					4																	114294539		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114294539G>A	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.11793G>A	4.37:g.114294539G>A						ANK2_ENST00000264366.6_Silent_p.E3898E|ANK2_ENST00000509550.1_Silent_p.E1022E|ANK2_ENST00000394537.3_Silent_p.E1846E|ANK2_ENST00000506722.1_Silent_p.E1837E|ANK2_ENST00000510275.2_Silent_p.E529E	p.E3931E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	45	11846	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3898					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11793G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	8.827	0.939050	0.18281	.	.	ENSG00000145362	ENST00000514960;ENST00000506344;ENST00000514167	.	.	.	6.06	1.37	0.22104	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23013	-1.0200	4	.	.	.	.	0.4513	0.00501	0.2968:0.1294:0.3096:0.2642	.	.	.	.	R	879;23;9	.	.	G	+	1	0	ANK2	114513988	0.992000	0.36948	0.015000	0.15790	0.990000	0.78478	0.268000	0.18571	-0.059000	0.13154	0.655000	0.94253	GGA		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		31	79	0	0	0	1	0	31	79				
ALMS1	7840	broad.mit.edu	37	2	73830425	73830425	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:73830425C>T	ENST00000264448.6	+	21	12464	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S4076F|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4118	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTCAGAGGTCCAAACGGTAA	0.443																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12352-12354)tCc>tTc		Alstrom syndrome 1							90.0	91.0	91.0					2																	73830425		2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73830425C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12353C>T	2.37:g.73830425C>T	ENSP00000264448:p.Ser4118Phe					ALMS1_ENST00000409009.1_Missense_Mutation_p.S4076F|ALMS1_ENST00000464408.2_3'UTR	p.S4118F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			21	12464	+			4118					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12353C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237457	0.79800	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.12255	2.7;2.7	5.13	5.13	0.70059	.	0.073155	0.56097	D	0.000037	T	0.30386	0.0763	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.974	T	0.00613	-1.1644	10	0.87932	D	0	.	16.4661	0.84079	0.0:1.0:0.0:0.0	.	4076;4118	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	F	4076;4118	ENSP00000386627:S4076F;ENSP00000264448:S4118F	ENSP00000264448:S4118F	S	+	2	0	ALMS1	73683933	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.819000	0.62664	2.823000	0.97156	0.650000	0.86243	TCC		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		30	83	0	0	0	1	0	30	83				
LRP12	29967	broad.mit.edu	37	8	105507375	105507375	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:105507375G>A	ENST00000276654.5	-	6	1751	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S529L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	548					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGTCCATACGAGGGAGGAGC	0.363																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1642-1644)tCg>tTg		low density lipoprotein receptor-related protein 12							119.0	125.0	123.0					8																	105507375		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105507375G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1643C>T	8.37:g.105507375G>A	ENSP00000276654:p.Ser548Leu					LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S529L	p.S548L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1751	-			548					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1643C>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200479	0.94997	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.95001	-2.46;-2.4;-3.58	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.978	D	0.96738	0.9544	10	0.87932	D	0	-27.678	20.244	0.98389	0.0:0.0:1.0:0.0	.	529;548	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	529;548;137	ENSP00000399148:S529L;ENSP00000276654:S548L;ENSP00000429305:S137L	ENSP00000276654:S548L	S	-	2	0	LRP12	105576551	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	9.799000	0.99117	2.865000	0.98341	0.655000	0.94253	TCG		0.363	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		40	88	0	0	0	1	0	40	88				
LOC100130331	100130331	broad.mit.edu	37	1	238090211	238090211	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:238090211C>A	ENST00000450451.1	+	0	1717					NR_027247.2																						ACGATGCCCCCCAAGCTGTGT	0.597																																						ENST00000450451.1																			0																																																			100130331							g.chr1:238090211C>A																													1.37:g.238090211C>A								NR_027247.2						0	1717	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.597	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			10	8	1	0	2.17888e-05	1	2.29273e-05	10	8				
LRP1B	53353	broad.mit.edu	37	2	141806652	141806652	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141806652G>T	ENST00000389484.3	-	11	2663	c.1692C>A	c.(1690-1692)caC>caA	p.H564Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	564					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTTCTGCGTGAAAGTCTA	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1690-1692)caC>caA		low density lipoprotein receptor-related protein 1B							208.0	197.0	201.0					2																	141806652		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806652G>T	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.1692C>A	2.37:g.141806652G>T	ENSP00000374135:p.His564Gln	TSP Lung(27;0.18)					p.H564Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2663	-		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)	564					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1692C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063363	0.20067	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91351	-2.83	5.49	-1.39	0.08997	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.067844	0.64402	U	0.000020	D	0.91164	0.7217	M	0.76328	2.33	0.40118	D	0.976567	D	0.59767	0.986	P	0.52066	0.689	D	0.90038	0.4140	10	0.72032	D	0.01	.	11.7919	0.52073	0.6183:0.0:0.3817:0.0	.	564	Q9NZR2	LRP1B_HUMAN	Q	564;502	ENSP00000374135:H564Q	ENSP00000374135:H564Q	H	-	3	2	LRP1B	141523122	0.108000	0.22018	0.996000	0.52242	0.014000	0.08584	-0.301000	0.08232	-0.220000	0.09988	-0.219000	0.12488	CAC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		68	160	1	0	1.76847e-28	1	2.39626e-28	68	160				
CFAP43	80217	broad.mit.edu	37	10	105956620	105956620	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105956620C>G	ENST00000278064.2	-	10	1402	c.1077G>C	c.(1075-1077)ctG>ctC	p.L359L	WDR96_ENST00000357060.3_Silent_p.L428L|WDR96_ENST00000369720.1_Silent_p.L359L|WDR96_ENST00000428666.1_Silent_p.L429L																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTAGGGTATTCAGATAAATCT	0.303																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1282-1284)ctG>ctC		WD repeat domain 96							53.0	53.0	53.0					10																	105956620		2203	4299	6502	SO:0001819	synonymous_variant	80217							g.chr10:105956620C>G																												ENST00000278064.2:c.1077G>C	10.37:g.105956620C>G						WDR96_ENST00000428666.1_Silent_p.L429L|WDR96_ENST00000278064.2_Silent_p.L359L|WDR96_ENST00000369720.1_Silent_p.L359L	p.L428L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			10	1399	-			428						Silent	SNP	ENST00000278064.2	37	c.1284G>C																																																																																					0.303	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			4	65	0	0	0	1	0	4	65				
OR2M4	26245	broad.mit.edu	37	1	248402522	248402522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:248402522G>T	ENST00000306687.1	+	1	292	c.292G>T	c.(292-294)Gga>Tga	p.G98*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	98					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAGGTTGTGGAACTCAGAT	0.463																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(292-294)Gga>Tga		olfactory receptor, family 2, subfamily M, member 4							154.0	130.0	138.0					1																	248402522		2203	4300	6503	SO:0001587	stop_gained	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402522G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.292G>T	1.37:g.248402522G>T	ENSP00000306688:p.Gly98*						p.G98*	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	292	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		98					Q15611|Q8NG82	Nonsense_Mutation	SNP	ENST00000306687.1	37	c.292G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.135374	0.56828	.	.	ENSG00000171180	ENST00000306687	.	.	.	3.49	2.56	0.30785	.	0.000000	0.41294	D	0.000905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.1652	0.25687	0.2211:0.0:0.7789:0.0	.	.	.	.	X	98	.	ENSP00000306688:G98X	G	+	1	0	OR2M4	246469145	0.000000	0.05858	0.236000	0.24074	0.617000	0.37484	-2.695000	0.00828	0.778000	0.33520	0.543000	0.68304	GGA		0.463	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		53	60	1	0	2.74695e-27	1	3.6794e-27	53	60				
AGAP1	116987	broad.mit.edu	37	2	236957875	236957875	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957875C>A	ENST00000304032.8	+	16	2644	c.2064C>A	c.(2062-2064)gtC>gtA	p.V688V	AGAP1_ENST00000428334.2_Silent_p.V527V|AGAP1_ENST00000336665.5_Silent_p.V635V|AGAP1_ENST00000409538.1_Silent_p.V900V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	688	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAACAGCGTCTGGGAAGAGA	0.572																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2698-2700)gtC>gtA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							72.0	73.0	73.0					2																	236957875		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957875C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2064C>A	2.37:g.236957875C>A						AGAP1_ENST00000304032.7_Silent_p.V688V|AGAP1_ENST00000428334.2_Silent_p.V527V|AGAP1_ENST00000336665.5_Silent_p.V635V	p.V900V			Q9UPQ3	AGAP1_HUMAN			15	3196	+			688					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.2700C>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355671	0.24598	.	.	ENSG00000157985	ENST00000418654;ENST00000453371	.	.	.	5.81	1.62	0.23740	.	.	.	.	.	T	0.71022	0.3291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69522	-0.5123	4	.	.	.	.	16.9811	0.86327	0.0953:0.2589:0.6457:0.0	.	.	.	.	M	241;90	.	.	L	+	1	2	AGAP1	236622614	0.988000	0.35896	0.998000	0.56505	0.987000	0.75469	0.151000	0.16283	-0.012000	0.14223	-0.181000	0.13052	CTG		0.572	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		30	68	1	0	5.77227e-19	1	7.28079e-19	30	68				
ANKMY1	51281	broad.mit.edu	37	2	241465791	241465791	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:241465791C>A	ENST00000272972.3	-	5	972	c.758G>T	c.(757-759)tGt>tTt	p.C253F	ANKMY1_ENST00000391987.1_Missense_Mutation_p.C253F|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.C342F|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	253							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGGGCCCACAGGGTGCAAA	0.532																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(757-759)tGt>tTt		ankyrin repeat and MYND domain containing 1							136.0	115.0	122.0					2																	241465791		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241465791C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.758G>T	2.37:g.241465791C>A	ENSP00000272972:p.Cys253Phe					ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.C342F|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.C253F	p.C253F			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1124	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	253					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.758G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488688	0.12641	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804	T;T;T	0.54479	0.58;0.58;0.57	3.85	-2.79	0.05841	.	1.255640	0.05501	N	0.558405	T	0.44030	0.1274	L	0.38175	1.15	0.09310	N	1	P;P	0.36874	0.572;0.572	B;B	0.41440	0.357;0.357	T	0.43861	-0.9365	10	0.54805	T	0.06	-7.4876	5.6508	0.17614	0.0:0.429:0.1346:0.4364	.	253;253	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	F	253;253;342	ENSP00000272972:C253F;ENSP00000375847:C253F;ENSP00000385887:C342F	ENSP00000272972:C253F	C	-	2	0	ANKMY1	241114464	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.155000	0.03163	-0.815000	0.04346	-0.482000	0.04802	TGT		0.532	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		40	53	1	0	2.54651e-27	1	3.42664e-27	40	53				
SHROOM4	57477	broad.mit.edu	37	X	50350944	50350944	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50350944C>T	ENST00000289292.7	-	6	3481	c.3198G>A	c.(3196-3198)gcG>gcA	p.A1066A	SHROOM4_ENST00000460112.3_Silent_p.A950A|SHROOM4_ENST00000376020.2_Silent_p.A1066A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1066					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.A1066A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGCTTTGGGGCGCCAAGCTGA	0.587																																						ENST00000376020.2																			1	Substitution - coding silent(1)	p.A1066A(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3196-3198)gcG>gcA		shroom family member 4							40.0	38.0	39.0					X																	50350944		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350944C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3198G>A	X.37:g.50350944C>T						SHROOM4_ENST00000289292.7_Silent_p.A1066A|SHROOM4_ENST00000460112.3_Silent_p.A950A	p.A1066A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3223	-	Ovarian(276;0.236)		1066					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.3198G>A	CCDS35277.1																																																																																				0.587	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		23	16	0	0	0	1	0	23	16				
GPR83	10888	broad.mit.edu	37	11	94134087	94134087	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:94134087G>A	ENST00000243673.2	-	1	498	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GPR83_ENST00000539203.2_Silent_p.F109F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	109					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTTGACGATGAAGAGGCTGG	0.547																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(325-327)ttC>ttT		G protein-coupled receptor 83							70.0	63.0	65.0					11																	94134087		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134087G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.327C>T	11.37:g.94134087G>A						GPR83_ENST00000539203.2_Silent_p.F109F	p.F109F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			1	498	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	109					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.327C>T	CCDS8297.1																																																																																				0.547	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		6	20	0	0	0	1	0	6	20				
OLIG3	167826	broad.mit.edu	37	6	137814789	137814789	+	Silent	SNP	G	G	A	rs138056559		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:137814789G>A	ENST00000367734.2	-	1	742	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	173					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTTGGCCGCGTGCGCGGGGT	0.701																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(517-519)caC>caT		oligodendrocyte transcription factor 3		G		1,4399	2.1+/-5.4	0,1,2199	21.0	24.0	23.0		519	4.6	1.0	6	dbSNP_134	23	0,8592		0,0,4296	no	coding-synonymous	OLIG3	NM_175747.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		173/273	137814789	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814789G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.519C>T	6.37:g.137814789G>A							p.H173H	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	742	-	Breast(32;0.165)|Colorectal(23;0.24)		173					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.519C>T	CCDS5186.1																																																																																				0.701	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	24	0	0	0	1	0	7	24				
FRMPD2	143162	broad.mit.edu	37	10	49440330	49440330	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49440330G>C	ENST00000374201.3	-	10	1298	c.996C>G	c.(994-996)acC>acG	p.T332T	FRMPD2_ENST00000305531.3_Silent_p.T308T|FRMPD2_ENST00000407470.4_Silent_p.T301T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	332					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCCCTTTTTTGGTCTGAAAAC	0.423																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(994-996)acC>acG		FERM and PDZ domain containing 2							55.0	53.0	53.0					10																	49440330		2202	4300	6502	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49440330G>C	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.996C>G	10.37:g.49440330G>C						FRMPD2_ENST00000305531.3_Silent_p.T308T|FRMPD2_ENST00000407470.4_Silent_p.T301T	p.T332T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	10	1298	-			332					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.996C>G	CCDS31195.1																																																																																				0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		11	27	0	0	0	1	0	11	27				
VAV3	10451	broad.mit.edu	37	1	108298048	108298048	+	Splice_Site	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:108298048C>T	ENST00000370056.4	-	12	1448		c.e12+1		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAATTACATACCAAATTCTCT	0.368																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.e12+1		vav 3 guanine nucleotide exchange factor							71.0	72.0	72.0					1																	108298048		2203	4300	6503	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108298048C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1173+1G>A	1.37:g.108298048C>T						VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site		NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	12	1448	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37		CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850501	0.91277	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6419	0.95762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108099571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.479000	0.81095	2.640000	0.89533	0.655000	0.94253	.		0.368	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	10	15	0	0	0	1	0	10	15				
TTC7B	145567	broad.mit.edu	37	14	91084308	91084308	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:91084308C>G	ENST00000328459.6	-	16	1954	c.1833G>C	c.(1831-1833)caG>caC	p.Q611H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.Q611H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	611										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATTTCCATATCTGCAGCATGT	0.547																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(1831-1833)caG>caC		tetratricopeptide repeat domain 7B							137.0	130.0	133.0					14																	91084308		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91084308C>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1833G>C	14.37:g.91084308C>G	ENSP00000336127:p.Gln611His					TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.Q611H	p.Q611H			Q86TV6	TTC7B_HUMAN			16	1954	-		Melanoma(154;0.222)	611					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1833G>C	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343052	0.61073	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894;ENST00000540938	T;T;T	0.39229	1.84;1.15;1.09	5.54	-5.95	0.02241	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.46157	1.445	0.50632	D	0.999887	D;D	0.64830	0.98;0.994	D;D	0.78314	0.965;0.991	T	0.61272	-0.7096	10	0.13470	T	0.59	-16.0495	16.0954	0.81117	0.0:0.3309:0.0:0.6691	.	611;611	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	H	509;611;611;81;20;353	ENSP00000349564:Q611H;ENSP00000336127:Q611H;ENSP00000451440:Q81H	ENSP00000336127:Q611H	Q	-	3	2	TTC7B	90154061	0.974000	0.33945	0.365000	0.25901	0.899000	0.52679	0.218000	0.17622	-1.209000	0.02631	-0.253000	0.11424	CAG		0.547	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			28	65	0	0	0	1	0	28	65				
TUBGCP4	27229	broad.mit.edu	37	15	43678106	43678106	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:43678106G>C	ENST00000260383.7	+	8	1095	c.841G>C	c.(841-843)Gaa>Caa	p.E281Q	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E145Q|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E281Q			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	281					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTTGTTGGAGAATCTGTCCA	0.418																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(841-843)Gaa>Caa		tubulin, gamma complex associated protein 4							86.0	80.0	82.0					15																	43678106		1878	4113	5991	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43678106G>C	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.841G>C	15.37:g.43678106G>C	ENSP00000260383:p.Glu281Gln					TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E145Q|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E281Q	p.E281Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	8	1081	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	281					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.841G>C		.	.	.	.	.	.	.	.	.	.	G	22.9	4.345871	0.82022	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.07444	3.19;3.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.25890	0.77	0.80722	D	1	B;B	0.23316	0.083;0.067	B;B	0.31869	0.137;0.084	T	0.24012	-1.0172	10	0.41790	T	0.15	-19.8415	19.2703	0.94006	0.0:0.0:1.0:0.0	.	281;281	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	Q	281;145	ENSP00000260383:E281Q;ENSP00000382387:E145Q	ENSP00000260383:E281Q	E	+	1	0	TUBGCP4	41465398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	GAA		0.418	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		7	68	0	0	0	1	0	7	68				
LAMA3	3909	broad.mit.edu	37	18	21399853	21399853	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:21399853G>C	ENST00000313654.9	+	19	2437	c.2196G>C	c.(2194-2196)gaG>gaC	p.E732D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E732D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	732					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGAAGTATGAGATTGAAGACG	0.413																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2194-2196)gaG>gaC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						155.0	142.0	146.0					18																	21399853		1868	4103	5971	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399853G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2196G>C	18.37:g.21399853G>C	ENSP00000324532:p.Glu732Asp					LAMA3_ENST00000399516.3_Missense_Mutation_p.E732D	p.E732D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			19	2437	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		732					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2196G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737800	0.69304	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.34859	1.35;1.34	5.69	0.262	0.15597	.	.	.	.	.	T	0.61236	0.2331	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.64153	-0.6474	9	0.56958	D	0.05	.	10.8964	0.47025	0.4951:0.0:0.5049:0.0	.	732;732	Q6VU67;Q16787	.;LAMA3_HUMAN	D	732;732;730	ENSP00000324532:E732D;ENSP00000382432:E732D	ENSP00000324532:E732D	E	+	3	2	LAMA3	19653851	1.000000	0.71417	0.973000	0.42090	0.846000	0.48090	2.734000	0.47368	0.086000	0.17137	0.555000	0.69702	GAG		0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		35	66	0	0	0	1	0	35	66				
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:31769759C>G	ENST00000240587.4	-	2	1267	c.940G>C	c.(940-942)Gcc>Ccc	p.A314P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537																																						ENST00000240587.4																			2	Substitution - Missense(2)	p.A314T(1)|p.A131T(1)	large_intestine(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(940-942)Gcc>Ccc		teashirt zinc finger homeobox 3							88.0	89.0	89.0					19																	31769759		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769759C>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.940G>C	19.37:g.31769759C>G	ENSP00000240587:p.Ala314Pro						p.A314P	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1267	-	Esophageal squamous(110;0.226)		314					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.940G>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	9.719	1.159166	0.21454	.	.	ENSG00000121297	ENST00000240587	T	0.12672	2.66	5.46	3.34	0.38264	.	0.108055	0.64402	D	0.000007	T	0.10809	0.0264	N	0.24115	0.695	0.80722	D	1	P	0.38167	0.621	B	0.40534	0.332	T	0.18871	-1.0323	10	0.36615	T	0.2	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	P	314	ENSP00000240587:A314P	ENSP00000240587:A314P	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC		0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		38	68	0	0	0	1	0	38	68				
WDHD1	11169	broad.mit.edu	37	14	55454021	55454021	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:55454021G>T	ENST00000360586.3	-	14	1676	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A	WDHD1_ENST00000421192.1_Silent_p.A414A|WDHD1_ENST00000359167.4_Silent_p.A55A|WDHD1_ENST00000420358.2_Silent_p.A414A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	537					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CGAGACATATGGCTTCAATAT	0.438																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1609-1611)gcC>gcA		WD repeat and HMG-box DNA binding protein 1							85.0	84.0	84.0					14																	55454021		2203	4300	6503	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55454021G>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1611C>A	14.37:g.55454021G>T						WDHD1_ENST00000420358.2_Silent_p.A414A|WDHD1_ENST00000421192.1_Silent_p.A414A|WDHD1_ENST00000359167.4_Silent_p.A55A	p.A537A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			14	1676	-			537					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.1611C>A	CCDS9721.1																																																																																				0.438	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		29	81	1	0	3.67414e-24	1	4.83265e-24	29	81				
LAMA4	3910	broad.mit.edu	37	6	112476784	112476784	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112476784T>C	ENST00000230538.7	-	15	2339	c.1942A>G	c.(1942-1944)Act>Gct	p.T648A	RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.T641A|LAMA4_ENST00000424408.2_Missense_Mutation_p.T641A|LAMA4_ENST00000389463.4_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	648	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTCGGTCAGTGGTGTTCAAA	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1942-1944)Act>Gct		laminin, alpha 4							140.0	135.0	137.0					6																	112476784		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476784T>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1942A>G	6.37:g.112476784T>C	ENSP00000230538:p.Thr648Ala					LAMA4_ENST00000522006.1_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.T641A|LAMA4_ENST00000424408.2_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA	p.T648A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	15	2339	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	648			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1942A>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	2.762	-0.257670	0.05791	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.07800	3.17;3.16;3.16;3.16	5.42	4.25	0.50352	.	0.197559	0.56097	D	0.000038	T	0.01320	0.0043	N	0.17474	0.49	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.13407	0.004;0.009	T	0.38001	-0.9681	10	0.02654	T	1	.	9.7319	0.40366	0.1542:0.0:0.0:0.8458	.	648;641	Q16363;Q16363-2	LAMA4_HUMAN;.	A	648;641;641;641	ENSP00000230538:T648A;ENSP00000429488:T641A;ENSP00000374114:T641A;ENSP00000416470:T641A	ENSP00000230538:T648A	T	-	1	0	LAMA4	112583477	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.429000	0.44758	1.051000	0.40369	0.460000	0.39030	ACT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		48	66	0	0	0	1	0	48	66				
FAT2	2196	broad.mit.edu	37	5	150947364	150947364	+	Missense_Mutation	SNP	G	G	A	rs374282108		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:150947364G>A	ENST00000261800.5	-	1	1141	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	377	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTGCCAGGAGGGGAAAAC	0.488																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1129-1131)Cct>Tct		FAT atypical cadherin 2		G	SER/PRO	0,4406		0,0,2203	62.0	64.0	64.0		1129	4.7	1.0	5		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT2	NM_001447.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	377/4350	150947364	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947364G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1129C>T	5.37:g.150947364G>A	ENSP00000261800:p.Pro377Ser						p.P377S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1141	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	377			Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1129C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229734	0.58777	0.0	1.16E-4	ENSG00000086570	ENST00000261800	T	0.71461	-0.57	5.59	4.71	0.59529	Cadherin (2);Cadherin-like (1);	0.096227	0.46145	D	0.000301	T	0.72526	0.3471	L	0.55017	1.72	0.53005	D	0.999967	D	0.61697	0.99	P	0.54889	0.763	T	0.68708	-0.5337	10	0.12103	T	0.63	.	12.7653	0.57388	0.0:0.1252:0.7446:0.1302	.	377	Q9NYQ8	FAT2_HUMAN	S	377	ENSP00000261800:P377S	ENSP00000261800:P377S	P	-	1	0	FAT2	150927557	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	5.522000	0.67092	1.355000	0.45865	0.561000	0.74099	CCT		0.488	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		29	36	0	0	0	1	0	29	36				
NRAP	4892	broad.mit.edu	37	10	115389479	115389479	+	Silent	SNP	G	G	A	rs372126033		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:115389479G>A	ENST00000359988.3	-	19	2152	c.1908C>T	c.(1906-1908)aaC>aaT	p.N636N	NRAP_ENST00000360478.3_Silent_p.N601N|NRAP_ENST00000369360.3_Silent_p.N609N|NRAP_ENST00000369358.4_Silent_p.N644N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATGCCTGATGTTTACCATAT	0.443																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1930-1932)aaC>aaT		nebulin-related anchoring protein							125.0	116.0	119.0					10																	115389479		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115389479G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1908C>T	10.37:g.115389479G>A						NRAP_ENST00000360478.3_Silent_p.N601N|NRAP_ENST00000359988.3_Silent_p.N636N|NRAP_ENST00000369360.3_Silent_p.N609N	p.N644N			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2176	-		Colorectal(252;0.0233)|Breast(234;0.188)	636						Silent	SNP	ENST00000359988.3	37	c.1932C>T	CCDS7579.1																																																																																				0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		50	59	0	0	0	1	0	50	59				
EXD3	54932	broad.mit.edu	37	9	140267956	140267956	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:140267956C>A	ENST00000342129.4	-	0	411				EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000340951.4_Missense_Mutation_p.E72D|EXD3_ENST00000479452.1_Missense_Mutation_p.E72D			Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGAGGGGCCCTCTCCCCGCT	0.701																																						ENST00000342129.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12								exonuclease 3'-5' domain containing 3							12.0	16.0	15.0					9																	140267956		1990	4141	6131			54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267956C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000342129.4:c.-745G>T	9.37:g.140267956C>A						EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000340951.4_Missense_Mutation_p.E72D|EXD3_ENST00000479452.1_Missense_Mutation_p.E72D				Q8N9H8	MUT7_HUMAN			0	411	-								Q6P1M1|Q8IXT8	Translation_Start_Site	SNP	ENST00000342129.4	37			.	.	.	.	.	.	.	.	.	.	C	9.039	0.989256	0.18966	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52295	0.67;1.46	4.31	0.843	0.18935	.	0.448332	0.23279	N	0.049932	T	0.27454	0.0674	N	0.22421	0.69	0.23016	N	0.998422	B;B	0.27068	0.039;0.167	B;B	0.23275	0.024;0.045	T	0.16012	-1.0417	10	0.66056	D	0.02	.	5.1315	0.14913	0.0:0.4473:0.0:0.5527	.	72;72	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	D	72	ENSP00000340474:E72D;ENSP00000431859:E72D	ENSP00000340474:E72D	E	-	3	2	EXD3	139387777	0.026000	0.19158	0.010000	0.14722	0.206000	0.24218	0.041000	0.13927	0.290000	0.22444	-0.320000	0.08662	GAG		0.701	EXD3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_017820		5	14	1	0	0.014758	1	0.014937	5	14				
PKHD1	5314	broad.mit.edu	37	6	51612708	51612708	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51612708G>C	ENST00000371117.3	-	58	9981	c.9706C>G	c.(9706-9708)Cca>Gca	p.P3236A	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3236A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3236					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCCTCTTGGATTGGAGGGA	0.478																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9706-9708)Cca>Gca		polycystic kidney and hepatic disease 1 (autosomal recessive)							120.0	114.0	116.0					6																	51612708		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612708G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9706C>G	6.37:g.51612708G>C	ENSP00000360158:p.Pro3236Ala					PKHD1_ENST00000340994.4_Missense_Mutation_p.P3236A	p.P3236A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9981	-	Lung NSC(77;0.0605)		3236					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9706C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586320	0.66105	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88741	-2.27;-2.42	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	M	0.79475	2.455	0.42120	D	0.991423	D;D;D	0.89917	1.0;0.988;0.999	D;P;D	0.69654	0.965;0.794;0.941	D	0.92275	0.5828	10	0.42905	T	0.14	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	3236;3236;3236	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	A	3236	ENSP00000360158:P3236A;ENSP00000341097:P3236A	ENSP00000341097:P3236A	P	-	1	0	PKHD1	51720667	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.717000	0.54911	2.712000	0.92718	0.650000	0.86243	CCA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		36	44	0	0	0	1	0	36	44				
SCD5	79966	broad.mit.edu	37	4	83552538	83552538	+	Missense_Mutation	SNP	C	C	G	rs150319742	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:83552538C>G	ENST00000319540.4	-	5	1254	c.935G>C	c.(934-936)cGg>cCg	p.R312P		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	312					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTTGGTTGCCCGTTTGCGGTC	0.547																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(934-936)cGg>cCg		stearoyl-CoA desaturase 5							59.0	47.0	51.0					4																	83552538		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83552538C>G	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.935G>C	4.37:g.83552538C>G	ENSP00000316329:p.Arg312Pro						p.R312P	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			5	1254	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	312					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.935G>C	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853746	0.71719	.	.	ENSG00000145284	ENST00000319540	T	0.47528	0.84	5.01	4.17	0.49024	.	0.318627	0.30473	N	0.009556	T	0.53206	0.1782	M	0.78285	2.405	0.80722	D	1	P	0.46064	0.872	P	0.47346	0.544	T	0.57780	-0.7752	10	0.62326	D	0.03	-19.2439	8.1904	0.31366	0.0:0.7744:0.0:0.2256	.	312	Q86SK9	SCD5_HUMAN	P	312	ENSP00000316329:R312P	ENSP00000316329:R312P	R	-	2	0	SCD5	83771562	0.912000	0.30974	1.000000	0.80357	0.945000	0.59286	0.392000	0.20801	1.340000	0.45581	0.563000	0.77884	CGG		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		14	24	0	0	0	1	0	14	24				
OR6N1	128372	broad.mit.edu	37	1	158736137	158736137	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158736137G>C	ENST00000335094.2	-	1	355	c.336C>G	c.(334-336)tgC>tgG	p.C112W		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	112						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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCAGGAGATAGCACTCAGTCG	0.498																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(334-336)tgC>tgG		olfactory receptor, family 6, subfamily N, member 1							65.0	65.0	65.0					1																	158736137		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736137G>C	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.336C>G	1.37:g.158736137G>C	ENSP00000335535:p.Cys112Trp						p.C112W	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	355	-	all_hematologic(112;0.0378)		112					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.336C>G	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678289	0.47886	.	.	ENSG00000197403	ENST00000335094	T	0.02140	4.43	5.1	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000106	T	0.07954	0.0199	M	0.87180	2.865	0.50813	D	0.999897	D	0.89917	1.0	D	0.71414	0.973	T	0.00070	-1.2134	10	0.87932	D	0	-19.8529	10.2977	0.43633	0.1506:0.0:0.8494:0.0	.	112	Q8NGY5	OR6N1_HUMAN	W	112	ENSP00000335535:C112W	ENSP00000335535:C112W	C	-	3	2	OR6N1	157002761	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.152000	0.10159	2.623000	0.88846	0.655000	0.94253	TGC		0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		12	51	0	0	0	1	0	12	51				
PRKAR2B	5577	broad.mit.edu	37	7	106710753	106710753	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:106710753G>T	ENST00000265717.4	+	2	594	c.335G>T	c.(334-336)cGt>cTt	p.R112L	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	112	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.R112H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTCACAAGGCGTGCCTCAGGT	0.303																																						ENST00000265717.4																			1	Substitution - Missense(1)	p.R112H(1)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.(334-336)cGt>cTt		protein kinase, cAMP-dependent, regulatory, type II, beta							86.0	89.0	88.0					7																	106710753		2203	4297	6500	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106710753G>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.335G>T	7.37:g.106710753G>T	ENSP00000265717:p.Arg112Leu					PRKAR2B_ENST00000393613.2_3'UTR	p.R112L	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN			2	594	+			112			Dimerization and phosphorylation.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.335G>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758057	0.49468	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.87334	-2.24	4.05	4.05	0.47172	.	0.051579	0.64402	D	0.000003	D	0.84023	0.5381	M	0.66939	2.045	0.46260	D	0.998954	P	0.35507	0.506	B	0.31614	0.133	D	0.86096	0.1553	10	0.87932	D	0	-26.9415	11.91	0.52733	0.0:0.0:1.0:0.0	.	112	P31323	KAP3_HUMAN	L	112;112;99	ENSP00000265717:R112L	ENSP00000265717:R112L	R	+	2	0	PRKAR2B	106497989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.590000	0.61013	2.250000	0.74265	0.655000	0.94253	CGT		0.303	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			30	117	1	0	6.90743e-12	1	8.03573e-12	30	117				
ADAMTS20	80070	broad.mit.edu	37	12	43777747	43777747	+	Silent	SNP	T	T	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777747T>G	ENST00000389420.3	-	30	4485	c.4486A>C	c.(4486-4488)Agg>Cgg	p.R1496R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATACATCCCTCTGCTGAACT	0.438																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4486-4488)Agg>Cgg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							87.0	72.0	77.0					12																	43777747		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777747T>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4486A>C	12.37:g.43777747T>G							p.R1496R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4485	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1496			TSP type-1 12.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.4486A>C	CCDS31778.2																																																																																				0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		30	26	0	0	0	1	0	30	26				
BRS3	680	broad.mit.edu	37	X	135574491	135574491	+	Missense_Mutation	SNP	C	C	T	rs146164598		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:135574491C>T	ENST00000370648.3	+	3	1385	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	386					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGTGTGACCTCGTTCACTGGG	0.527																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1156-1158)tCg>tTg		bombesin-like receptor 3		C	LEU/SER	1,3834		0,1,1631,571	77.0	69.0	72.0		1157	2.0	0.0	X	dbSNP_134	72	0,6728		0,0,2428,1872	no	missense	BRS3	NM_001727.1	145	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	386/400	135574491	1,10562	2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135574491C>T		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.1157C>T	X.37:g.135574491C>T	ENSP00000359682:p.Ser386Leu						p.S386L	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			3	1385	+	Acute lymphoblastic leukemia(192;0.000127)		386						Missense_Mutation	SNP	ENST00000370648.3	37	c.1157C>T	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.551679	0.00138	2.61E-4	0.0	ENSG00000102239	ENST00000370648	T	0.62788	-0.0	5.68	2.0	0.26442	.	0.547767	0.16362	N	0.217737	T	0.26846	0.0657	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.10377	T	0.69	5.0E-4	5.9728	0.19361	0.0:0.1494:0.1364:0.7142	.	386	P32247	BRS3_HUMAN	L	386	ENSP00000359682:S386L	ENSP00000359682:S386L	S	+	2	0	BRS3	135402157	0.815000	0.29118	0.001000	0.08648	0.026000	0.11368	1.202000	0.32271	-0.001000	0.14495	-0.503000	0.04515	TCG		0.527	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		6	44	0	0	0	1	0	6	44				
KLF4	9314	broad.mit.edu	37	9	110249793	110249793	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:110249793G>A	ENST00000374672.4	-	3	1355	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	294	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCATTGCTGAGAGGGGGTC	0.692																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(880-882)ctC>ctT		Kruppel-like factor 4 (gut)							15.0	18.0	17.0					9																	110249793		2194	4292	6486	SO:0001819	synonymous_variant	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249793G>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.882C>T	9.37:g.110249793G>A							p.L294L	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	1355	-			294			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Silent	SNP	ENST00000374672.4	37	c.882C>T	CCDS6770.2																																																																																				0.692	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		7	14	0	0	0	1	0	7	14				
TCAIM	285343	broad.mit.edu	37	3	44448933	44448933	+	Splice_Site	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:44448933G>A	ENST00000342649.4	+	11	1677		c.e11-1		TCAIM_ENST00000417237.1_Splice_Site	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial							mitochondrion (GO:0005739)											CTATATAATAGGTTAAAGGTT	0.284																																						ENST00000342649.4																			0											c.e11-1		T cell activation inhibitor, mitochondrial							18.0	19.0	19.0					3																	44448933		2158	4288	6446	SO:0001630	splice_region_variant	285343							g.chr3:44448933G>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1251-1G>A	3.37:g.44448933G>A						TCAIM_ENST00000417237.1_Splice_Site		NM_173826.3	NP_776187.2					11	1677	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Splice_Site	SNP	ENST00000342649.4	37		CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330919	0.81690	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf23	44423937	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	8.171000	0.89675	2.595000	0.87683	0.655000	0.94253	.		0.284	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	Intron	21	22	0	0	0	1	0	21	22				
POTEC	388468	broad.mit.edu	37	18	14542999	14542999	+	Silent	SNP	G	G	A	rs528364508		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:14542999G>A	ENST00000358970.5	-	1	146	c.147C>T	c.(145-147)caC>caT	p.H49H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	49										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTCGTCGTGGTCTCCAG	0.587																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(145-147)caC>caT		POTE ankyrin domain family, member C							50.0	52.0	51.0					18																	14542999		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542999G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.147C>T	18.37:g.14542999G>A						POTEC_ENST00000389891.4_5'UTR	p.H49H	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	146	-			49						Silent	SNP	ENST00000358970.5	37	c.147C>T	CCDS45835.1																																																																																				0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		68	319	0	0	0	1	0	68	319				
THSD7A	221981	broad.mit.edu	37	7	11446683	11446683	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:11446683C>A	ENST00000423059.4	-	21	4168		c.e21-1		AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCATTTTTCCTTGAAGAGAT	0.458										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.e21-1		thrombospondin, type I, domain containing 7A							89.0	85.0	86.0					7																	11446683		1910	4130	6040	SO:0001630	splice_region_variant	221981					integral to membrane		g.chr7:11446683C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3917-1G>T	7.37:g.11446683C>A		HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	21	4168	-									Splice_Site	SNP	ENST00000423059.4	37		CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015773	0.75161	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2771	0.98491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THSD7A	11413208	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.722000	0.84778	2.868000	0.98415	0.644000	0.83932	.		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	Intron	13	22	1	0	1.49906e-05	1	1.58309e-05	13	22				
OR4C15	81309	broad.mit.edu	37	11	55322547	55322547	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55322547C>G	ENST00000314644.2	+	1	765	c.765C>G	c.(763-765)aaC>aaG	p.N255K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGTCATCAACAGTGGGTTTA	0.473										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(763-765)aaC>aaG		olfactory receptor, family 4, subfamily C, member 15							176.0	118.0	138.0					11																	55322547		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322547C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.765C>G	11.37:g.55322547C>G	ENSP00000324958:p.Asn255Lys	HNSCC(20;0.049)					p.N255K	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	765	+			201					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.765C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481267	0.26598	.	.	ENSG00000181939	ENST00000314644	T	0.00130	8.69	5.02	0.73	0.18271	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.92923	3.36	0.25201	N	0.990053	D	0.67145	0.996	D	0.67900	0.954	T	0.37572	-0.9700	9	0.87932	D	0	.	7.1157	0.25414	0.0:0.5657:0.0:0.4343	.	201	Q8NGM1	OR4CF_HUMAN	K	255	ENSP00000324958:N255K	ENSP00000324958:N255K	N	+	3	2	OR4C15	55079123	0.128000	0.22383	0.992000	0.48379	0.027000	0.11550	0.337000	0.19841	0.235000	0.21160	-0.532000	0.04303	AAC		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		23	41	0	0	0	1	0	23	41				
USP53	54532	broad.mit.edu	37	4	120188600	120188600	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:120188600C>T	ENST00000274030.6	+	13	2277	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	USP53_ENST00000450251.1_Silent_p.I366I	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GGCAGGTCATCAGCTGGTCAC	0.383																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(1096-1098)atC>atT		ubiquitin specific peptidase 53							112.0	103.0	106.0					4																	120188600		1922	4131	6053	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120188600C>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1098C>T	4.37:g.120188600C>T						USP53_ENST00000274030.6_Silent_p.I366I	p.I366I			Q70EK8	UBP53_HUMAN			9	1642	+			366						Silent	SNP	ENST00000274030.6	37	c.1098C>T	CCDS43265.1																																																																																				0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		19	82	0	0	0	1	0	19	82				
ENPP2	5168	broad.mit.edu	37	8	120608131	120608131	+	Intron	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120608131T>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000259486.6_Missense_Mutation_p.I362L|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCCTATGTATTTTTCTTCTT	0.448																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000259486.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1084-1086)Ata>Tta		ectonucleotide pyrophosphatase/phosphodiesterase 2							139.0	139.0	139.0					8																	120608131		2203	4300	6503	SO:0001627	intron_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120608131T>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2031A>T	8.37:g.120608131T>A						ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron	p.I362L	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1133	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		324					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1084A>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618713	0.28801	.	.	ENSG00000136960	ENST00000259486	T	0.71103	-0.54	6.07	0.695	0.18070	.	1.059270	0.07530	N	0.912006	T	0.44414	0.1292	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46162	-0.9211	9	0.02654	T	1	.	6.2892	0.21051	0.365:0.2993:0.0:0.3357	.	362	Q13822-2	.	L	362	ENSP00000259486:I362L	ENSP00000259486:I362L	I	-	1	0	ENPP2	120677312	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	0.679000	0.25291	-0.103000	0.12175	-0.339000	0.08088	ATA		0.448	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			58	105	0	0	0	1	0	58	105				
DCUN1D4	23142	broad.mit.edu	37	4	52779750	52779750	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:52779750G>A	ENST00000334635.5	+	11	1059	c.879G>A	c.(877-879)taG>taA	p.*293*	DCUN1D4_ENST00000381437.4_Silent_p.*233*|DCUN1D4_ENST00000381441.3_Silent_p.*258*|DCUN1D4_ENST00000451288.2_Silent_p.*337*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	0						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGATGTCCTAGGACTTTATGC	0.403																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(877-879)taG>taA		DCN1, defective in cullin neddylation 1, domain containing 4							104.0	102.0	103.0					4																	52779750		2203	4300	6503	SO:0001819	synonymous_variant	23142							g.chr4:52779750G>A	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.879G>A	4.37:g.52779750G>A						DCUN1D4_ENST00000381441.3_Silent_p.*258*|DCUN1D4_ENST00000451288.2_Silent_p.*337*|DCUN1D4_ENST00000381437.4_Silent_p.*233*	p.*293*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		11	1059	+			0					B4DH25|Q7Z3F3|Q7Z6B8	Silent	SNP	ENST00000334635.5	37	c.879G>A	CCDS33982.1																																																																																				0.403	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		21	39	0	0	0	1	0	21	39				
UNC13C	440279	broad.mit.edu	37	15	54799343	54799343	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:54799343C>T	ENST00000260323.11	+	22	5330	c.5330C>T	c.(5329-5331)gCt>gTt	p.A1777V	UNC13C_ENST00000537900.1_Missense_Mutation_p.A1775V|UNC13C_ENST00000545554.1_Missense_Mutation_p.A1777V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1777	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCAGTATGCTGCAATTGTA	0.318																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5329-5331)gCt>gTt		unc-13 homolog C (C. elegans)							89.0	84.0	85.0					15																	54799343		1839	4096	5935	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54799343C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5330C>T	15.37:g.54799343C>T	ENSP00000260323:p.Ala1777Val					UNC13C_ENST00000260323.11_Missense_Mutation_p.A1777V|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1775V	p.A1777V			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	22	5330	+			1777			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5330C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236851	0.95240	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13420	2.59;2.59;2.59	5.74	5.74	0.90152	Munc13 homology 1 (1);	0.227351	0.44902	D	0.000410	T	0.41003	0.1140	M	0.79123	2.44	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.06481	-1.0824	10	0.42905	T	0.14	.	18.9661	0.92697	0.0:1.0:0.0:0.0	.	1777	Q8NB66	UN13C_HUMAN	V	1777;1777;1775	ENSP00000260323:A1777V;ENSP00000438156:A1777V;ENSP00000442569:A1775V	ENSP00000260323:A1777V	A	+	2	0	UNC13C	52586635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.633000	0.83260	2.733000	0.93635	0.558000	0.71614	GCT		0.318	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	15	0	0	0	1	0	6	15				
C7orf66	154907	broad.mit.edu	37	7	108524198	108524198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:108524198G>A	ENST00000379007.2	-	2	268	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	72						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCATCATGTGACGATATTGA	0.413																																						ENST00000379007.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(214-216)Cac>Tac		chromosome 7 open reading frame 66							196.0	167.0	177.0					7																	108524198		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524198G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.214C>T	7.37:g.108524198G>A	ENSP00000368292:p.His72Tyr						p.H72Y	NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN			2	268	-			72						Missense_Mutation	SNP	ENST00000379007.2	37	c.214C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	G	7.338	0.620277	0.14193	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	2.99	0.34606	.	.	.	.	.	T	0.32556	0.0833	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.62184	0.899	T	0.13019	-1.0525	7	.	.	.	.	9.1566	0.36996	0.0:0.2738:0.7262:0.0	.	72	A4D0T2	CG066_HUMAN	Y	72	.	.	H	-	1	0	C7orf66	108311434	0.006000	0.16342	0.133000	0.22050	0.047000	0.14425	1.060000	0.30530	1.198000	0.43158	0.563000	0.77884	CAC		0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		113	134	0	0	0	1	0	113	134				
PCDH10	57575	broad.mit.edu	37	4	134073136	134073136	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134073136C>G	ENST00000264360.5	+	1	2667	c.1841C>G	c.(1840-1842)gCc>gGc	p.A614G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCGAGAACGCCCGGCTCACT	0.697																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1840-1842)gCc>gGc		protocadherin 10							28.0	32.0	31.0					4																	134073136		2145	4244	6389	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073136C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1841C>G	4.37:g.134073136C>G	ENSP00000264360:p.Ala614Gly						p.A614G	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2667	+			614			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1841C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129190	0.37533	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.35973	1.28	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000401	T	0.44498	0.1296	N	0.17901	0.54	0.58432	D	0.999999	D;B	0.76494	0.999;0.37	D;P	0.85130	0.997;0.464	T	0.32851	-0.9891	10	0.26408	T	0.33	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	614;614	Q9P2E7;Q96SF0	PCD10_HUMAN;.	G	614	ENSP00000264360:A614G	ENSP00000264360:A614G	A	+	2	0	PCDH10	134292586	1.000000	0.71417	0.988000	0.46212	0.053000	0.15095	5.797000	0.69087	2.325000	0.78763	0.655000	0.94253	GCC		0.697	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		14	45	0	0	0	1	0	14	45				
OR4D6	219983	broad.mit.edu	37	11	59224883	59224883	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59224883G>C	ENST00000300127.2	+	1	473	c.450G>C	c.(448-450)gtG>gtC	p.V150V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTCTTGGGTGAGTGGTGGTT	0.517																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(448-450)gtG>gtC		olfactory receptor, family 4, subfamily D, member 6							280.0	248.0	259.0					11																	59224883		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224883G>C	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.450G>C	11.37:g.59224883G>C							p.V150V	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	473	+			150					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.450G>C	CCDS31562.1																																																																																				0.517	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		56	122	0	0	0	1	0	56	122				
TRIM37	4591	broad.mit.edu	37	17	57058310	57058310	+	IGR	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:57058310G>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.G729A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTTGGAAAGGGTACAGTGAA	0.408									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(2185-2187)gGg>gCg		protein phosphatase, Mg2+/Mn2+ dependent, 1E							75.0	77.0	76.0					17																	57058310		2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57058310G>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57058310G>C							p.G729A	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	2315	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		738					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	c.2186G>C	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924432	0.18056	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.17854	2.25	5.77	3.64	0.41730	.	0.423551	0.22918	N	0.054050	T	0.07683	0.0193	N	0.08118	0	0.25282	N	0.989428	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.19128	-1.0315	10	0.40728	T	0.16	-6.0872	5.4272	0.16433	0.2568:0.1506:0.5926:0.0	.	738;729	Q8WY54-3;Q8WY54-2	.;.	A	729;580	ENSP00000312411:G729A	ENSP00000312411:G729A	G	+	2	0	PPM1E	54413092	0.639000	0.27234	0.948000	0.38648	0.994000	0.84299	0.867000	0.27968	1.442000	0.47568	0.655000	0.94253	GGG		0.408	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		42	65	0	0	0	1	0	42	65				
ARHGAP9	64333	broad.mit.edu	37	12	57868441	57868441	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57868441A>T	ENST00000356411.2	-	14	1892	c.1754T>A	c.(1753-1755)gTg>gAg	p.V585E	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.V645E|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.V656E|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.V566E|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.V566E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.V382E|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	585	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTCTGGACCACTGCCAAGTT	0.522																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1966-1968)gTg>gAg		Rho GTPase activating protein 9							119.0	116.0	117.0					12																	57868441		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868441A>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1754T>A	12.37:g.57868441A>T	ENSP00000348782:p.Val585Glu					ARHGAP9_ENST00000393791.3_Missense_Mutation_p.V566E|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.V585E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.V645E|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.V566E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.V382E	p.V656E			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		17	2159	-			585			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1967T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.4|25.4	4.638346|4.638346	0.87760|0.87760	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130|ENST00000550399	T;T;T;T;T;T|.	0.17528|.	2.27;2.27;2.27;2.27;2.27;2.27|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.137961|.	0.49305|.	D|.	0.000159|.	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.21097|0.21097	0.63|0.63	0.50313|0.50313	D|D	0.999865|0.999865	D;D;D;D;P|.	0.89917|.	1.0;0.997;1.0;0.995;0.851|.	D;D;D;D;P|.	0.79784|.	0.993;0.952;0.974;0.944;0.568|.	T|T	0.47522|0.47522	-0.9111|-0.9111	10|5	0.87932|.	D|.	0|.	.|.	13.6238|13.6238	0.62153|0.62153	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	645;585;566;566;382|.	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3|.	.;RHG09_HUMAN;.;.;.|.	E|R	566;585;236;566;656;615;382;73|36	ENSP00000377380:V566E;ENSP00000348782:V585E;ENSP00000394307:V566E;ENSP00000377386:V656E;ENSP00000397950:V382E;ENSP00000448423:V73E|.	ENSP00000344852:V615E|.	V|W	-|-	2|1	0|0	ARHGAP9|ARHGAP9	56154708|56154708	0.765000|0.765000	0.28485|0.28485	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.433000|3.433000	0.52834|0.52834	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	GTG|TGG		0.522	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		49	68	0	0	0	1	0	49	68				
ZNF385D	79750	broad.mit.edu	37	3	21478633	21478633	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:21478633C>A	ENST00000281523.2	-	5	1020	c.502G>T	c.(502-504)Gtt>Ttt	p.V168F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	168	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V168I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGTCATAACACTGCTTTTG	0.443																																						ENST00000281523.2																			1	Substitution - Missense(1)	p.V168I(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(502-504)Gtt>Ttt		zinc finger protein 385D							175.0	161.0	166.0					3																	21478633		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478633C>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.502G>T	3.37:g.21478633C>A	ENSP00000281523:p.Val168Phe					ZNF385D_ENST00000494118.1_5'UTR	p.V168F	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1020	-			168			Thr-rich.			Missense_Mutation	SNP	ENST00000281523.2	37	c.502G>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304041	0.23736	.	.	ENSG00000151789	ENST00000281523	T	0.32753	1.44	6.09	5.22	0.72569	.	0.511855	0.21067	N	0.080724	T	0.19167	0.0460	N	0.14661	0.345	0.39515	D	0.96842	B	0.26258	0.145	B	0.26614	0.071	T	0.06463	-1.0825	10	0.09843	T	0.71	-6.1349	15.645	0.77042	0.0:0.9343:0.0:0.0657	.	168	Q9H6B1	Z385D_HUMAN	F	168	ENSP00000281523:V168F	ENSP00000281523:V168F	V	-	1	0	ZNF385D	21453637	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	1.273000	0.33121	1.590000	0.49995	-0.137000	0.14449	GTT		0.443	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		52	51	1	0	5.57489e-27	1	7.43319e-27	52	51				
WDR17	116966	broad.mit.edu	37	4	177071209	177071209	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177071209C>A	ENST00000280190.4	+	16	2291	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	WDR17_ENST00000508596.1_Missense_Mutation_p.P688Q|WDR17_ENST00000393643.2_Missense_Mutation_p.P688Q|WDR17_ENST00000507824.2_Missense_Mutation_p.P695Q			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	712										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATAGAACCAGGCACTCCT	0.318																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2062-2064)cCa>cAa		WD repeat domain 17							75.0	76.0	76.0					4																	177071209		2203	4298	6501	SO:0001583	missense	116966							g.chr4:177071209C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2135C>A	4.37:g.177071209C>A	ENSP00000280190:p.Pro712Gln					WDR17_ENST00000507824.2_Missense_Mutation_p.P695Q|WDR17_ENST00000280190.4_Missense_Mutation_p.P712Q|WDR17_ENST00000508596.1_Missense_Mutation_p.P688Q	p.P688Q	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2315	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	712					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2063C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	0.654	-0.808313	0.02819	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.57107	0.45;0.47;0.42	5.51	1.95	0.26073	.	0.464295	0.22346	N	0.061277	T	0.24431	0.0592	N	0.13043	0.29	0.22779	N	0.998748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24584	-1.0156	10	0.02654	T	1	-2.8497	4.2678	0.10771	0.308:0.5022:0.086:0.1037	.	688;712	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Q	688;688;712;695	ENSP00000422763:P688Q;ENSP00000377258:P688Q;ENSP00000280190:P712Q	ENSP00000280190:P712Q	P	+	2	0	WDR17	177308203	0.028000	0.19301	0.023000	0.16930	0.610000	0.37248	0.880000	0.28159	0.393000	0.25203	-0.474000	0.04947	CCA		0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			34	60	1	0	1.56442e-22	1	2.03933e-22	34	60				
OR10G4	390264	broad.mit.edu	37	11	123887132	123887132	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123887132C>T	ENST00000320891.4	+	1	851	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTTCTCAACCCTGTTGTGTAC	0.453																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(850-852)cCt>cTt		olfactory receptor, family 10, subfamily G, member 4							94.0	85.0	88.0					11																	123887132		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887132C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.851C>T	11.37:g.123887132C>T	ENSP00000325076:p.Pro284Leu						p.P284L	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	851	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	284					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.851C>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	16.31	3.088132	0.55968	.	.	ENSG00000254737	ENST00000320891	T	0.63417	-0.04	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000916	T	0.79335	0.4428	M	0.84846	2.72	0.46376	D	0.99901	D	0.58620	0.983	D	0.65773	0.938	D	0.84332	0.0522	10	0.87932	D	0	.	14.9265	0.70881	0.0:1.0:0.0:0.0	.	284	Q8NGN3	O10G4_HUMAN	L	284	ENSP00000325076:P284L	ENSP00000325076:P284L	P	+	2	0	OR10G4	123392342	0.999000	0.42202	0.738000	0.30950	0.805000	0.45488	4.797000	0.62503	1.900000	0.55004	0.580000	0.79431	CCT		0.453	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		18	64	0	0	0	1	0	18	64				
SPHKAP	80309	broad.mit.edu	37	2	228884145	228884145	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:228884145G>T	ENST00000392056.3	-	7	1471	c.1425C>A	c.(1423-1425)gtC>gtA	p.V475V	SPHKAP_ENST00000344657.5_Silent_p.V475V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	475						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTCAACAGAGACTTCCATCT	0.537																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1423-1425)gtC>gtA		SPHK1 interactor, AKAP domain containing							66.0	66.0	66.0					2																	228884145		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884145G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1425C>A	2.37:g.228884145G>T						SPHKAP_ENST00000344657.5_Silent_p.V475V	p.V475V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1471	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	475					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1425C>A	CCDS46537.1																																																																																				0.537	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		24	51	1	0	1.22574e-08	1	1.36609e-08	24	51				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	63	0	0	0	1	0	4	63				
AGTR1	185	broad.mit.edu	37	3	148459268	148459268	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:148459268G>A	ENST00000497524.1	+	2	837	c.446G>A	c.(445-447)tGc>tAc	p.C149Y	AGTR1_ENST00000349243.3_Missense_Mutation_p.C149Y|AGTR1_ENST00000542281.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.C149Y	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	149					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAGTCACCTGCATCATCATT	0.453																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(445-447)tGc>tAc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						117.0	110.0	112.0					3																	148459268		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459268G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.446G>A	3.37:g.148459268G>A	ENSP00000419422:p.Cys149Tyr					AGTR1_ENST00000497524.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.C149Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.C149Y	p.C149Y	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	892	+			149					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.446G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977383	0.74360	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.87106	0.2182	10	0.87932	D	0	-18.2237	19.387	0.94560	0.0:0.0:1.0:0.0	.	149	P30556	AGTR1_HUMAN	Y	149	ENSP00000419422:C149Y;ENSP00000273430:C149Y;ENSP00000443186:C149Y;ENSP00000398832:C149Y;ENSP00000385612:C149Y;ENSP00000419783:C149Y;ENSP00000418084:C149Y;ENSP00000418851:C149Y;ENSP00000385641:C149Y	ENSP00000273430:C149Y	C	+	2	0	AGTR1	149941958	1.000000	0.71417	0.992000	0.48379	0.893000	0.52053	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	TGC		0.453	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			73	131	0	0	0	1	0	73	131				
TP63	8626	broad.mit.edu	37	3	189597916	189597916	+	Intron	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:189597916T>C	ENST00000264731.3	+	11	1438				TP63_ENST00000320472.5_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000437221.1_Silent_p.S377S|TP63_ENST00000440651.2_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000418709.2_Silent_p.S471S|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|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)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAAAACAATCTGACGTCTTCT	0.443										HNSCC(45;0.13)																												ENST00000418709.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1411-1413)tcT>tcC		tumor protein p63							109.0	102.0	104.0					3																	189597916		1568	3582	5150	SO:0001627	intron_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189597916T>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1350-6267T>C	3.37:g.189597916T>C		HNSCC(45;0.13)				TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000437221.1_Silent_p.S377S|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Intron	p.S471S	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1441	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		0					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1413T>C	CCDS3293.1																																																																																				0.443	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		26	63	0	0	0	1	0	26	63				
OTOGL	283310	broad.mit.edu	37	12	80672909	80672909	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:80672909A>G	ENST00000547103.1	+	25	2870	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	OTOGL_ENST00000458043.2_Missense_Mutation_p.Y955C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	955	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGACTAGAATATGACTATATC	0.353																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2863-2865)tAt>tGt		otogelin-like							160.0	150.0	153.0					12																	80672909		1860	4090	5950	SO:0001583	missense	283310							g.chr12:80672909A>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2864A>G	12.37:g.80672909A>G	ENSP00000447211:p.Tyr955Cys					OTOGL_ENST00000547103.1_Missense_Mutation_p.Y955C	p.Y955C	NM_173591.3	NP_775862.3					25	2870	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2864A>G		.	.	.	.	.	.	.	.	.	.	A	18.13	3.554662	0.65425	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.76316	-1.01;-1.01	5.62	4.43	0.53597	.	.	.	.	.	D	0.90445	0.7008	H	0.95437	3.67	0.52501	D	0.99995	.	.	.	.	.	.	D	0.92698	0.6172	7	0.87932	D	0	.	12.3294	0.55031	0.8473:0.0:0.0:0.1527	.	.	.	.	C	955	ENSP00000447211:Y955C;ENSP00000400895:Y955C	ENSP00000400895:Y955C	Y	+	2	0	OTOGL	79197040	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	2.133000	0.65898	0.482000	0.46254	TAT		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		17	85	0	0	0	1	0	17	85				
LILRB1	10859	broad.mit.edu	37	19	55143681	55143681	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55143681G>C	ENST00000396331.1	+	6	1011	c.654G>C	c.(652-654)ctG>ctC	p.L218L	LILRB1_ENST00000324602.7_Silent_p.L218L|LILRB1_ENST00000418536.2_Silent_p.L218L|LILRB1_ENST00000396315.1_Silent_p.L218L|LILRB1_ENST00000396317.1_Silent_p.L218L|LILRB1_ENST00000427581.2_Silent_p.L254L|LILRB1_ENST00000396321.2_Silent_p.L218L|LILRB1_ENST00000396332.4_Silent_p.L218L|LILRB1_ENST00000396327.3_Silent_p.L218L|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000448689.1_Silent_p.L218L|LILRB1_ENST00000434867.2_Silent_p.L218L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	218	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGAGCTCCTGGTCCTAGGTG	0.582										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(652-654)ctG>ctC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							106.0	111.0	109.0					19																	55143681		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143681G>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.654G>C	19.37:g.55143681G>C		HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Silent_p.L218L|LILRB1_ENST00000427581.2_Silent_p.L254L|LILRB1_ENST00000396317.1_Silent_p.L218L|LILRB1_ENST00000434867.2_Silent_p.L218L|LILRB1_ENST00000396315.1_Silent_p.L218L|LILRB1_ENST00000396327.3_Silent_p.L218L|LILRB1_ENST00000418536.2_Silent_p.L218L|LILRB1_ENST00000396321.2_Silent_p.L218L|LILRB1_ENST00000324602.7_Silent_p.L218L|LILRB1_ENST00000396332.4_Silent_p.L218L	p.L218L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	1011	+			218			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.654G>C	CCDS42617.1																																																																																				0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			45	100	0	0	0	1	0	45	100				
KLRC3	3823	broad.mit.edu	37	12	10587972	10587972	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10587972G>T	ENST00000539033.1	-	2	239	c.225C>A	c.(223-225)gtC>gtA	p.V75V	KLRC2_ENST00000536833.2_Silent_p.V16V|KLRC2_ENST00000381902.2_Silent_p.V75V|KLRC2_ENST00000381901.1_Silent_p.V75V																							TGATTCCTAGGACCTCGGCAG	0.428																																						ENST00000381902.2																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(223-225)gtC>gtA		killer cell lectin-like receptor subfamily C, member 2							187.0	208.0	201.0					12																	10587972		2202	4298	6500	SO:0001819	synonymous_variant	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10587972G>T																												ENST00000539033.1:c.225C>A	12.37:g.10587972G>T						KLRC2_ENST00000381901.1_Silent_p.V75V|NKG2-E_ENST00000539033.1_Silent_p.V75V|KLRC2_ENST00000536833.2_Silent_p.V16V	p.V75V	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN			2	231	-			75						Silent	SNP	ENST00000539033.1	37	c.225C>A																																																																																					0.428	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			24	212	1	0	2.47511e-08	1	2.73244e-08	24	212				
CACNA1A	773	broad.mit.edu	37	19	13565959	13565959	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:13565959G>C	ENST00000360228.5	-	2	360	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L121V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	121					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATCAGGCAGATGCTGCTCC	0.448																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(361-363)Ctg>Gtg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						193.0	193.0	193.0					19																	13565959		2044	4221	6265	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13565959G>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.361C>G	19.37:g.13565959G>C	ENSP00000353362:p.Leu121Val					CACNA1A_ENST00000573710.2_Missense_Mutation_p.L121V	p.L121V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		2	360	-			121					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.361C>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687140	0.68157	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.75477	-0.94	4.91	4.91	0.64330	.	0.000000	0.51477	D	0.000084	D	0.85792	0.5779	M	0.74881	2.28	0.44908	D	0.997921	D;D	0.69078	0.997;0.997	D;D	0.78314	0.978;0.991	D	0.87217	0.2251	10	0.62326	D	0.03	.	17.2292	0.86980	0.0:0.0:1.0:0.0	.	121;121	O00555;Q9NS88	CAC1A_HUMAN;.	V	121	ENSP00000353362:L121V	ENSP00000317661:L121V	L	-	1	2	CACNA1A	13426959	1.000000	0.71417	0.996000	0.52242	0.845000	0.48019	1.246000	0.32803	2.441000	0.82636	0.655000	0.94253	CTG		0.448	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		76	142	0	0	0	1	0	76	142				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	68	0	0	0	1	0	5	68				
CCDC42	146849	broad.mit.edu	37	17	8647480	8647480	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:8647480C>T	ENST00000293845.3	-	2	332	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	CCDC42_ENST00000539522.2_Missense_Mutation_p.A36T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	36										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GACTCCGACGCCCCCTCAACA	0.542																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(106-108)Gcg>Acg		coiled-coil domain containing 42							113.0	96.0	102.0					17																	8647480		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647480C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.106G>A	17.37:g.8647480C>T	ENSP00000293845:p.Ala36Thr					CCDC42_ENST00000539522.2_Missense_Mutation_p.A36T	p.A36T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			2	332	-			36					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.106G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	1.573	-0.533687	0.04082	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24908	1.83;1.86	4.35	2.34	0.29019	.	0.473178	0.19958	N	0.102278	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.24870	-1.0148	10	0.16896	T	0.51	-16.7151	12.5321	0.56122	0.0:0.5028:0.4971:0.0	.	36	Q96M95	CCD42_HUMAN	T	36	ENSP00000293845:A36T;ENSP00000444359:A36T	ENSP00000293845:A36T	A	-	1	0	CCDC42	8588205	0.069000	0.21087	0.096000	0.21009	0.000000	0.00434	0.812000	0.27211	0.585000	0.29608	-0.835000	0.03068	GCG		0.542	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		59	29	0	0	0	1	0	59	29				
HSPA12A	259217	broad.mit.edu	37	10	118451953	118451953	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:118451953T>A	ENST00000369209.3	-	6	676	c.572A>T	c.(571-573)gAg>gTg	p.E191V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	191						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTCTCGAACTCCGAACCCGC	0.567																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(571-573)gAg>gTg		heat shock 70kDa protein 12A							126.0	137.0	134.0					10																	118451953		2180	4295	6475	SO:0001583	missense	259217						ATP binding	g.chr10:118451953T>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.572A>T	10.37:g.118451953T>A	ENSP00000358211:p.Glu191Val						p.E191V	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	676	-			191						Missense_Mutation	SNP	ENST00000369209.3	37	c.572A>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.052171	0.36181	.	.	ENSG00000165868	ENST00000369209	T	0.45668	0.89	5.79	5.79	0.91817	.	0.242319	0.47455	D	0.000221	T	0.31702	0.0805	L	0.31065	0.9	0.39815	D	0.972766	B	0.02656	0.0	B	0.10450	0.005	T	0.12708	-1.0537	10	0.27785	T	0.31	.	12.629	0.56646	0.0:0.0:0.138:0.862	.	191	O43301	HS12A_HUMAN	V	191	ENSP00000358211:E191V	ENSP00000358211:E191V	E	-	2	0	HSPA12A	118441943	0.997000	0.39634	0.950000	0.38849	0.993000	0.82548	3.810000	0.55613	2.220000	0.72140	0.528000	0.53228	GAG		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		40	160	0	0	0	1	0	40	160				
TUBA1B	10376	broad.mit.edu	37	12	49521986	49521986	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:49521986C>A	ENST00000336023.5	-	4	1205	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	371					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCTCTCTGTACCTTGGCCAGG	0.577																																						ENST00000336023.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(1111-1113)Gta>Tta		tubulin, alpha 1b							28.0	27.0	27.0					12																	49521986		2202	4278	6480	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49521986C>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1111G>T	12.37:g.49521986C>A	ENSP00000336799:p.Val371Leu					RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	p.V371L	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN			4	1205	-			371					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.1111G>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	13.29	2.194515	0.38806	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	D	0.83506	-1.73	5.41	5.41	0.78517	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.40222	U	0.001155	D	0.89860	0.6837	L	0.58428	1.81	0.80722	D	1	D	0.63046	0.992	D	0.83275	0.996	D	0.90575	0.4525	10	0.87932	D	0	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	371	P68363	TBA1B_HUMAN	L	371;102	ENSP00000336799:V371L	ENSP00000336799:V371L	V	-	1	0	TUBA1B	47808253	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.469000	0.80959	2.567000	0.86603	0.644000	0.83932	GTA		0.577	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		22	18	1	0	3.11337e-16	1	3.82781e-16	22	18				
RP3-368A4.5	0	broad.mit.edu	37	X	73423446	73423446	+	RNA	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:73423446G>C	ENST00000603037.1	-	0	514																											ACTTTCCTTTGAGGGTCTTCG	0.438																																						ENST00000603037.1																			0																																																			0							g.chrX:73423446G>C																													X.37:g.73423446G>C														0	514	-									RNA	SNP	ENST00000603037.1	37																																																																																						0.438	RP3-368A4.5-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000468301.1			11	6	0	0	0	1	0	11	6				
LRP1B	53353	broad.mit.edu	37	2	141665506	141665506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141665506C>A	ENST00000389484.3	-	22	4431	c.3460G>T	c.(3460-3462)Gag>Tag	p.E1154*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1154	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGAGTTTCTCTGGCTGCAGG	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3460-3462)Gag>Tag		low density lipoprotein receptor-related protein 1B							176.0	168.0	171.0					2																	141665506		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665506C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3460G>T	2.37:g.141665506C>A	ENSP00000374135:p.Glu1154*	TSP Lung(27;0.18)					p.E1154*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4431	-		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)	1154			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.3460G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	50	16.532637	0.99865	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.58	5.58	0.84498	.	0.138047	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	.	.	.	X	1154;1092;299	.	ENSP00000374135:E1154X	E	-	1	0	LRP1B	141381976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.958000	0.56737	2.641000	0.89580	0.585000	0.79938	GAG		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		40	113	1	0	3.38236e-24	1	4.45891e-24	40	113				
RYR2	6262	broad.mit.edu	37	1	237656291	237656291	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656291G>T	ENST00000366574.2	+	19	2182	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	RYR2_ENST00000360064.6_Missense_Mutation_p.G620V|RYR2_ENST00000542537.1_Missense_Mutation_p.G606V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGCCACGGGGTTGCAGTC	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1864-1866)gGg>gTg		ryanodine receptor 2 (cardiac)							138.0	151.0	147.0					1																	237656291		2028	4171	6199	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.chr1:237656291G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1865G>T	1.37:g.237656291G>T	ENSP00000355533:p.Gly622Val					RYR2_ENST00000360064.6_Missense_Mutation_p.G620V|RYR2_ENST00000542537.1_Missense_Mutation_p.G606V	p.G622V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		19	2182	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	622			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1865G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222467	0.79464	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95821	-3.82;-3.82;-3.82	6.16	6.16	0.99307	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000007	D	0.96262	0.8781	M	0.86343	2.81	0.80722	D	1	B	0.19073	0.033	B	0.20577	0.03	D	0.92862	0.6306	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	622	Q92736	RYR2_HUMAN	V	622;620;606	ENSP00000355533:G622V;ENSP00000353174:G620V;ENSP00000443798:G606V	ENSP00000353174:G620V	G	+	2	0	RYR2	235722914	1.000000	0.71417	0.997000	0.53966	0.467000	0.32768	9.792000	0.99085	2.937000	0.99478	0.650000	0.86243	GGG		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	21	1	0	3.99206e-14	1	4.76761e-14	18	21				
RFX6	222546	broad.mit.edu	37	6	117252625	117252625	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117252625C>A	ENST00000332958.2	+	19	2759	c.2743C>A	c.(2743-2745)Cct>Act	p.P915T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	915					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTTTACCACCTATCAACAC	0.448																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2743-2745)Cct>Act		regulatory factor X, 6							90.0	83.0	85.0					6																	117252625		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117252625C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2743C>A	6.37:g.117252625C>A	ENSP00000332208:p.Pro915Thr						p.P915T	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			19	2759	+			915					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2743C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027149	0.75390	.	.	ENSG00000185002	ENST00000332958	T	0.76186	-1.0	5.98	5.98	0.97165	.	0.058441	0.64402	D	0.000001	T	0.79770	0.4503	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80420	-0.1390	10	0.72032	D	0.01	-19.5857	20.452	0.99131	0.0:1.0:0.0:0.0	.	915	Q8HWS3	RFX6_HUMAN	T	915	ENSP00000332208:P915T	ENSP00000332208:P915T	P	+	1	0	RFX6	117359318	1.000000	0.71417	0.999000	0.59377	0.570000	0.35934	7.157000	0.77461	2.838000	0.97847	0.591000	0.81541	CCT		0.448	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		33	60	1	0	1.08312e-15	1	1.32055e-15	33	60				
SHCBP1	79801	broad.mit.edu	37	16	46650005	46650005	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:46650005C>A	ENST00000303383.3	-	4	715	c.449G>T	c.(448-450)tGt>tTt	p.C150F		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	150					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TTGAGAGTCACAGAGGTATGG	0.468																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(448-450)tGt>tTt		SHC SH2-domain binding protein 1							89.0	82.0	84.0					16																	46650005		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46650005C>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.449G>T	16.37:g.46650005C>A	ENSP00000306473:p.Cys150Phe						p.C150F	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			4	715	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	150					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.449G>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	.	16.27	3.076199	0.55646	.	.	ENSG00000171241	ENST00000303383	T	0.23348	1.91	4.09	3.14	0.36123	.	0.047957	0.85682	D	0.000000	T	0.28333	0.0700	M	0.63843	1.955	0.58432	D	0.999996	P	0.49635	0.926	B	0.43623	0.425	T	0.07520	-1.0768	10	0.48119	T	0.1	-4.6349	11.6279	0.51156	0.0:0.9121:0.0:0.0879	.	150	Q8NEM2	SHCBP_HUMAN	F	150	ENSP00000306473:C150F	ENSP00000306473:C150F	C	-	2	0	SHCBP1	45207506	1.000000	0.71417	0.989000	0.46669	0.964000	0.63967	6.347000	0.73004	0.927000	0.37143	0.484000	0.47621	TGT		0.468	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		26	78	1	0	1.77063e-15	1	2.14979e-15	26	78				
TECPR1	25851	broad.mit.edu	37	7	97860318	97860318	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:97860318C>T	ENST00000447648.2	-	15	2536	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N	TECPR1_ENST00000542604.1_Missense_Mutation_p.S676N|TECPR1_ENST00000379795.3_Missense_Mutation_p.S747N|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	746				S -> T (in Ref. 7; CAB55961). {ECO:0000305}.	autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGTCTGGGCTGGGCTCGCT	0.692																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2236-2238)aGc>aAc		tectonin beta-propeller repeat containing 1							31.0	39.0	37.0					7																	97860318		2018	4168	6186	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97860318C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2237G>A	7.37:g.97860318C>T	ENSP00000404923:p.Ser746Asn					TECPR1_ENST00000379795.3_Missense_Mutation_p.S747N|TECPR1_ENST00000542604.1_Missense_Mutation_p.S676N	p.S746N			Q7Z6L1	TCPR1_HUMAN			15	2536	-			746	S -> T (in Ref. 6; CAB55961).				A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2237G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418081	0.42918	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.32988	1.43;1.43;1.43	4.66	3.76	0.43208	.	0.338684	0.35466	N	0.003185	T	0.30823	0.0777	L	0.56769	1.78	0.28548	N	0.911754	P;P	0.48911	0.9;0.917	B;P	0.44477	0.386;0.451	T	0.29458	-1.0011	10	0.62326	D	0.03	-38.6649	8.2785	0.31887	0.0:0.8218:0.0:0.1782	.	676;746	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	N	746;747;676	ENSP00000404923:S746N;ENSP00000369121:S747N;ENSP00000441121:S676N	ENSP00000369121:S747N	S	-	2	0	TECPR1	97698254	0.779000	0.28652	0.983000	0.44433	0.603000	0.37013	2.299000	0.43611	2.319000	0.78375	0.456000	0.33151	AGC		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		5	38	0	0	0	1	0	5	38				
SQRDL	58472	broad.mit.edu	37	15	45968409	45968409	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:45968409C>T	ENST00000260324.7	+	6	1151	c.765C>T	c.(763-765)ctC>ctT	p.L255L	RP11-96O20.4_ENST00000564080.1_Silent_p.L255L|SQRDL_ENST00000568606.1_Silent_p.L255L	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	255					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGCGGAACCTCACTGTTAACT	0.458																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(763-765)ctC>ctT		sulfide quinone reductase-like (yeast)							139.0	145.0	143.0					15																	45968409		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968409C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.765C>T	15.37:g.45968409C>T						SQRDL_ENST00000568606.1_Silent_p.L255L|RP11-96O20.4_ENST00000564080.1_Silent_p.L255L	p.L255L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	1151	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	255					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.765C>T	CCDS10127.1																																																																																				0.458	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			52	119	0	0	0	1	0	52	119				
COL27A1	85301	broad.mit.edu	37	9	117002759	117002759	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:117002759G>A	ENST00000356083.3	+	21	3218	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	943	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGCAGCTGGGGCCCGAGGT	0.662																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2827-2829)Ggg>Agg		collagen, type XXVII, alpha 1							59.0	68.0	65.0					9																	117002759		2203	4299	6502	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117002759G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2827G>A	9.37:g.117002759G>A	ENSP00000348385:p.Gly943Arg						p.G943R	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			21	3218	+			943			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2827G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817652	0.70912	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99637	-6.29	5.91	5.91	0.95273	.	.	.	.	.	D	0.99825	0.9922	H	0.98951	4.38	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	9	0.87932	D	0	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	943	Q8IZC6	CORA1_HUMAN	R	943	ENSP00000348385:G943R	ENSP00000348385:G943R	G	+	1	0	COL27A1	116042580	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.141000	0.71744	2.793000	0.96121	0.655000	0.94253	GGG		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		40	82	0	0	0	1	0	40	82				
PDE6C	5146	broad.mit.edu	37	10	95381781	95381781	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:95381781G>A	ENST00000371447.3	+	4	954	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	272	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GATCATATCTGAACTGTGAAC	0.403																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(814-816)ctG>ctA		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							175.0	153.0	161.0					10																	95381781		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95381781G>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.816G>A	10.37:g.95381781G>A							p.L272L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			4	954	+		Colorectal(252;0.123)	272			GAF 2.		A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.816G>A	CCDS7429.1																																																																																				0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	89	0	0	0	1	0	6	89				
PAPPA2	60676	broad.mit.edu	37	1	176679229	176679229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:176679229C>T	ENST00000367662.3	+	11	4732	c.3568C>T	c.(3568-3570)Caa>Taa	p.Q1190*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1190					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATACTTGGATCAATGGGCTAC	0.453																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3568-3570)Caa>Taa		pappalysin 2							126.0	122.0	124.0					1																	176679229		1896	4126	6022	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679229C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3568C>T	1.37:g.176679229C>T	ENSP00000356634:p.Gln1190*						p.Q1190*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			11	4732	+			1190					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.3568C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	49	16.045975	0.99852	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.76	5.76	0.90799	.	0.113881	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6759	19.571	0.95419	0.0:1.0:0.0:0.0	.	.	.	.	X	1190	.	ENSP00000356634:Q1190X	Q	+	1	0	PAPPA2	174945852	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.040000	0.76551	2.713000	0.92767	0.655000	0.94253	CAA		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	95	0	0	0	1	0	17	95				
AHCY	191	broad.mit.edu	37	20	32880204	32880204	+	Silent	SNP	G	G	A	rs199616559		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:32880204G>A	ENST00000217426.2	-	4	482	c.405C>T	c.(403-405)ctC>ctT	p.L135L	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Silent_p.L107L	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	135					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGTTGGTGAGGTCGCCCC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16976	0.0		0.0	False		,,,				2504	0.0					ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(319-321)ctC>ctT		adenosylhomocysteinase							87.0	66.0	74.0					20																	32880204		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32880204G>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.405C>T	20.37:g.32880204G>A						AHCY_ENST00000217426.2_Silent_p.L135L|AHCY_ENST00000468908.1_5'UTR	p.L107L	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			4	707	-			135					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.321C>T	CCDS13233.1																																																																																				0.637	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		6	42	0	0	0	1	0	6	42				
LRRC6	23639	broad.mit.edu	37	8	133673769	133673769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133673769T>C	ENST00000519595.1	-	2	213	c.115A>G	c.(115-117)Att>Gtt	p.I39V	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.I39V|LRRC6_ENST00000250173.1_Missense_Mutation_p.I39V			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	39					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATTTATCAATGTGTTCTAGT	0.358																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(115-117)Att>Gtt		leucine rich repeat containing 6							61.0	61.0	61.0					8																	133673769		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133673769T>C	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.115A>G	8.37:g.133673769T>C	ENSP00000429791:p.Ile39Val					LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.I39V|LRRC6_ENST00000518642.1_Missense_Mutation_p.I39V	p.I39V			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	213	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		39					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.115A>G		.	.	.	.	.	.	.	.	.	.	T	14.97	2.693373	0.48202	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.54279	0.58;0.58;0.58	6.02	4.84	0.62591	.	0.092689	0.64402	D	0.000001	T	0.51193	0.1660	L	0.61218	1.895	0.44719	D	0.997715	B	0.29481	0.245	B	0.31101	0.124	T	0.51529	-0.8694	10	0.59425	D	0.04	-13.9248	12.0587	0.53550	0.0:0.0:0.2903:0.7097	.	39	Q86X45	LRRC6_HUMAN	V	39	ENSP00000429791:I39V;ENSP00000428610:I39V;ENSP00000250173:I39V	ENSP00000250173:I39V	I	-	1	0	LRRC6	133742951	0.939000	0.31865	1.000000	0.80357	0.989000	0.77384	0.785000	0.26830	1.077000	0.40990	0.529000	0.55759	ATT		0.358	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		27	84	0	0	0	1	0	27	84				
SYNE1	23345	broad.mit.edu	37	6	152623178	152623178	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:152623178C>A	ENST00000367255.5	-	92	17968	c.17367G>T	c.(17365-17367)aaG>aaT	p.K5789N	SYNE1_ENST00000356820.4_Missense_Mutation_p.K313N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5789N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5401N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5718N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5789					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGTAGCCCTTAATTTTCT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(17365-17367)aaG>aaT		spectrin repeat containing, nuclear envelope 1							81.0	82.0	82.0					6																	152623178		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152623178C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17367G>T	6.37:g.152623178C>A	ENSP00000356224:p.Lys5789Asn	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.K5789N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5401N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K313N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5718N	p.K5789N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	92	17968	-		Ovarian(120;0.0955)	5789					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17367G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990929	0.74703	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.58940	0.76;0.76;0.76;0.76;0.76;0.76;0.3	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000006	T	0.53916	0.1826	L	0.27053	0.805	0.53688	D	0.999971	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.77557	0.945;0.99;0.99;0.983	T	0.58002	-0.7713	10	0.49607	T	0.09	.	11.241	0.48968	0.0:0.8905:0.0:0.1095	.	204;5789;5789;5718	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5789;5718;5789;5718;5401;313;11;11	ENSP00000356224:K5789N;ENSP00000396024:K5718N;ENSP00000265368:K5789N;ENSP00000390975:K5718N;ENSP00000341887:K5401N;ENSP00000349276:K313N;ENSP00000437411:K11N	ENSP00000265368:K5789N	K	-	3	2	SYNE1	152664871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.713000	0.25794	2.804000	0.96469	0.650000	0.86243	AAG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	95	1	0	7.38237e-10	1	8.38775e-10	25	95				
DGKZ	8525	broad.mit.edu	37	11	46396315	46396315	+	Splice_Site	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:46396315G>C	ENST00000454345.1	+	19	2213		c.e19-1		DGKZ_ENST00000318201.8_Splice_Site|DGKZ_ENST00000528615.1_Splice_Site|DGKZ_ENST00000527911.1_Splice_Site|DGKZ_ENST00000456247.2_Splice_Site|DGKZ_ENST00000421244.2_Splice_Site|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000343674.6_Splice_Site|DGKZ_ENST00000532868.2_Splice_Site|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Splice_Site	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta						blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCGCCTCCAGTGTGATGGAA	0.652																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.e19-1		diacylglycerol kinase, zeta							69.0	69.0	69.0					11																	46396315		2202	4299	6501	SO:0001630	splice_region_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46396315G>C	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2089-1G>C	11.37:g.46396315G>C						DGKZ_ENST00000456247.2_Splice_Site|DGKZ_ENST00000528615.1_Splice_Site|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Splice_Site|DGKZ_ENST00000527911.1_Splice_Site|DGKZ_ENST00000395574.3_Splice_Site|DGKZ_ENST00000421244.2_Splice_Site|DGKZ_ENST00000343674.6_Splice_Site|DGKZ_ENST00000318201.8_Splice_Site		NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	19	2213	+								B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Splice_Site	SNP	ENST00000454345.1	37		CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.020062|2.020062	0.35606|0.35606	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	.|.	.|.	.|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73233	.|0.3561	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73811	.|-0.3865	.|4	.|.	.|.	.|.	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|T	-1|63	.|.	.|.	.|S	+|+	.|2	.|0	DGKZ|DGKZ	46352891|46352891	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.127000|0.127000	0.20565|0.20565	9.808000|9.808000	0.99193|0.99193	2.195000|2.195000	0.70347|0.70347	0.561000|0.561000	0.74099|0.74099	.|AGT		0.652	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	Intron	3	51	0	0	0	1	0	3	51				
FER1L5	90342	broad.mit.edu	37	2	97368398	97368398	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:97368398G>T	ENST00000457909.1	+	0	4820							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTCGCTGACTGGGGAGGCCGA	0.582																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							40.0	47.0	45.0					2																	97368398		2143	4263	6406			90342					integral to membrane		g.chr2:97368398G>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97368398G>T										A0AVI2	FR1L5_HUMAN			0	4820	+								Q17RH2|Q6ZU24	RNA	SNP	ENST00000457909.1	37			.	.	.	.	.	.	.	.	.	.	G	5.155	0.214120	0.09810	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.29	5.29	0.74685	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.45361	U	0.000361	D	0.86289	0.5897	M	0.92880	3.355	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89629	0.3854	8	0.87932	D	0	-25.3287	17.7294	0.88373	0.0:0.0:1.0:0.0	.	517;1809;518	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	W	1809;1813;518	.	ENSP00000442027:G518W	G	+	1	0	FER1L5	96732125	1.000000	0.71417	0.423000	0.26634	0.054000	0.15201	7.880000	0.87243	2.478000	0.83669	0.561000	0.74099	GGG		0.582	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		10	16	1	0	7.48243e-07	1	8.06225e-07	10	16				
ERBB3	2065	broad.mit.edu	37	12	56477587	56477587	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:56477587A>G	ENST00000267101.3	+	2	575	c.135A>G	c.(133-135)caA>caG	p.Q45Q	ERBB3_ENST00000411731.2_Silent_p.Q45Q|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	45					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGAGAACCAATACCAGACAC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(133-135)caA>caG		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							298.0	240.0	260.0					12																	56477587		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56477587A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.135A>G	12.37:g.56477587A>G						ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.Q45Q	p.Q45Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	575	+			45					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.135A>G	CCDS31833.1																																																																																				0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			73	90	0	0	0	1	0	73	90				
AHNAK	79026	broad.mit.edu	37	11	62284988	62284988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284988C>A	ENST00000378024.4	-	5	17175	c.16901G>T	c.(16900-16902)gGa>gTa	p.G5634V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				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)			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)				AGCCTGGAGTCCAATCTGACC	0.493																																						ENST00000378024.4																			0				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						c.(16900-16902)gGa>gTa		AHNAK nucleoprotein							94.0	106.0	102.0					11																	62284988		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284988C>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.16901G>T	11.37:g.62284988C>A	ENSP00000367263:p.Gly5634Val					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G5634V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17175	-		Melanoma(852;0.155)	5634			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16901G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600888	0.46423	.	.	ENSG00000124942	ENST00000378024	T	0.00737	5.76	5.09	4.18	0.49190	.	0.161807	0.28736	U	0.014302	T	0.02571	0.0078	L	0.59436	1.845	0.46478	D	0.999062	D	0.76494	0.999	D	0.71656	0.974	T	0.64407	-0.6415	10	0.32370	T	0.25	0.0156	9.532	0.39200	0.0:0.7772:0.1436:0.0792	.	5634	Q09666	AHNK_HUMAN	V	5634	ENSP00000367263:G5634V	ENSP00000367263:G5634V	G	-	2	0	AHNAK	62041564	0.044000	0.20184	0.989000	0.46669	0.909000	0.53808	1.197000	0.32211	1.137000	0.42214	0.637000	0.83480	GGA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		53	86	1	0	2.48909e-17	1	3.08626e-17	53	86				
RBM26	64062	broad.mit.edu	37	13	79894824	79894824	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:79894824C>G	ENST00000438737.2	-	22	3396	c.2956G>C	c.(2956-2958)Gat>Cat	p.D986H	RBM26_ENST00000438724.1_Missense_Mutation_p.D962H|RBM26_ENST00000267229.7_Missense_Mutation_p.D959H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	986					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AATGAGTCATCCACCAAAGAC	0.313																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2956-2958)Gat>Cat		RNA binding motif protein 26							124.0	107.0	112.0					13																	79894824		2202	4299	6501	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79894824C>G	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2956G>C	13.37:g.79894824C>G	ENSP00000387531:p.Asp986His					RBM26_ENST00000438724.1_Missense_Mutation_p.D962H|RBM26_ENST00000267229.7_Missense_Mutation_p.D959H	p.D986H			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	22	3396	-		Acute lymphoblastic leukemia(28;0.0279)	986					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2956G>C		.	.	.	.	.	.	.	.	.	.	C	12.14	1.847639	0.32606	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T;T	0.48201	0.83;0.84;0.82	5.88	5.04	0.67666	.	0.243680	0.41938	D	0.000792	T	0.49201	0.1543	N	0.19112	0.55	0.80722	D	1	D;D;D	0.58620	0.983;0.971;0.983	P;P;P	0.57468	0.821;0.667;0.821	T	0.53222	-0.8469	10	0.52906	T	0.07	-13.7731	15.1224	0.72453	0.0:0.9323:0.0:0.0677	.	962;986;959	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	H	959;987;986;962	ENSP00000267229:D959H;ENSP00000387531:D987H;ENSP00000390222:D962H	ENSP00000267229:D959H	D	-	1	0	RBM26	78792825	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.623000	0.74238	1.515000	0.48885	-0.151000	0.13558	GAT		0.313	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		17	40	0	0	0	1	0	17	40				
TBC1D14	57533	broad.mit.edu	37	4	6925573	6925573	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:6925573G>A	ENST00000409757.4	+	2	581	c.457G>A	c.(457-459)Gat>Aat	p.D153N	TBC1D14_ENST00000448507.1_Missense_Mutation_p.D153N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	153					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCGCAGCGATGATGTCTCCGT	0.587																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(457-459)Gat>Aat		TBC1 domain family, member 14							116.0	103.0	108.0					4																	6925573		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925573G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.457G>A	4.37:g.6925573G>A	ENSP00000386921:p.Asp153Asn					TBC1D14_ENST00000448507.1_Missense_Mutation_p.D153N	p.D153N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	581	+			153					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.457G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	10.40	1.341121	0.24339	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.06068	3.35;3.35	4.73	0.639	0.17747	.	0.197059	0.40728	N	0.001030	T	0.03095	0.0091	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.50701	-0.8797	9	.	.	.	-2.6908	6.5306	0.22324	0.1653:0.275:0.5596:0.0	.	153	Q9P2M4	TBC14_HUMAN	N	153	ENSP00000404041:D153N;ENSP00000386921:D153N	.	D	+	1	0	TBC1D14	6976474	0.997000	0.39634	0.028000	0.17463	0.365000	0.29674	2.285000	0.43487	-0.096000	0.12329	0.585000	0.79938	GAT		0.587	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		8	87	0	0	0	1	0	8	87				
PTPRD	5789	broad.mit.edu	37	9	8317912	8317912	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:8317912G>T	ENST00000381196.4	-	43	6244	c.5701C>A	c.(5701-5703)Cta>Ata	p.L1901I	PTPRD_ENST00000360074.4_Missense_Mutation_p.L1888I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1495I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1491I|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1901I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1494I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1491I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1879I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1901I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1901	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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)		AGGTACTCTAGTGCGGCACGA	0.428										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5701-5703)Cta>Ata		protein tyrosine phosphatase, receptor type, D							137.0	141.0	140.0					9																	8317912		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.chr9:8317912G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5701C>A	9.37:g.8317912G>T	ENSP00000370593:p.Leu1901Ile	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.L1901I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1491I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1879I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1494I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1901I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1495I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1491I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1888I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1494I	p.L1901I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	43	6244	-		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)	1901			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5701C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764165	0.49574	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	M	0.69248	2.105	0.80722	D	1	P;P;P;P;P;P;D;D;D	0.71674	0.792;0.792;0.792;0.792;0.938;0.752;0.998;0.99;0.996	D;D;D;D;P;D;D;D;D	0.81914	0.952;0.952;0.952;0.952;0.812;0.92;0.988;0.995;0.987	D	0.91716	0.5385	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1494;1485;1494;1495;1491;1491;1888;1901;1901	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1901;1901;1888;1879;1495;1494;1491;1491;1372;1901;1494;1494	ENSP00000370593:L1901I;ENSP00000348812:L1901I;ENSP00000353187:L1888I;ENSP00000351293:L1879I;ENSP00000347373:L1495I;ENSP00000380741:L1494I;ENSP00000380735:L1491I;ENSP00000440515:L1491I;ENSP00000438164:L1901I;ENSP00000417093:L1494I;ENSP00000380731:L1494I	ENSP00000340918:L1372I	L	-	1	2	PTPRD	8307912	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.642000	0.54367	2.885000	0.99019	0.655000	0.94253	CTA		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			53	61	1	0	2.47907e-22	1	3.22444e-22	53	61				
ACAN	176	broad.mit.edu	37	15	89402183	89402183	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:89402183G>C	ENST00000561243.1	+	11	6367	c.6367G>C	c.(6367-6369)Gat>Cat	p.D2123H	ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000439576.2_Missense_Mutation_p.D2123H			P16112	PGCA_HUMAN	aggrecan	2008	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCAGAGAAGATTCTGGGTC	0.547																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6367-6369)Gat>Cat		aggrecan							53.0	55.0	54.0					15																	89402183		1947	4138	6085	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402183G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6367G>C	15.37:g.89402183G>C	ENSP00000453342:p.Asp2123His					ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H	p.D2123H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6741	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2123					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6367G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355193	0.11239	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02121	4.68;4.44	4.4	-2.42	0.06542	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.99;0.997	P;P	0.55749	0.706;0.783	T	0.42378	-0.9455	9	0.36615	T	0.2	0.0025	2.1668	0.03839	0.3549:0.1206:0.4019:0.1226	.	2123;2123	E7ENV9;E7EX88	.;.	H	2123;2123;2009	ENSP00000387356:D2123H;ENSP00000341615:D2123H	ENSP00000268134:D2009H	D	+	1	0	ACAN	87203187	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.308000	0.08156	-0.455000	0.07054	0.555000	0.69702	GAT		0.547	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	67	0	0	0	1	0	5	67				
SH3PXD2A	9644	broad.mit.edu	37	10	105363339	105363339	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105363339C>G	ENST00000369774.4	-	15	1912	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D381H|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D518H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D413H|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	546					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCGGGGAGTCCTGGCTCTCA	0.667																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1636-1638)Gac>Cac		SH3 and PX domains 2A							38.0	42.0	41.0					10																	105363339		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363339C>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1636G>C	10.37:g.105363339C>G	ENSP00000358789:p.Asp546His					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D381H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D518H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D413H	p.D546H			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1912	-		Colorectal(252;0.0815)|Breast(234;0.131)	546					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1636G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.97|12.97	2.096742|2.096742	0.36952|0.36952	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.236205|.	0.48767|.	D|.	0.000180|.	T|T	0.71821|0.71821	0.3385|0.3385	L|L	0.55481|0.55481	1.735|1.735	0.42692|0.42692	D|D	0.993582|0.993582	B;P;B;P|.	0.36354|.	0.245;0.549;0.351;0.483|.	B;B;B;B|.	0.43508|.	0.227;0.422;0.264;0.233|.	T|T	0.69072|0.69072	-0.5242|-0.5242	10|5	0.35671|.	T|.	0.21|.	-25.317|-25.317	19.3268|19.3268	0.94265|0.94265	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	546;395;391;518|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	H|A	546;518;353;461;413;381|472	ENSP00000358789:D546H;ENSP00000348215:D518H;ENSP00000443663:D413H;ENSP00000441514:D381H|.	ENSP00000318135:D353H|.	D|G	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105353329|105353329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.441000|0.441000	0.31987|0.31987	4.905000|4.905000	0.63286|0.63286	2.563000|2.563000	0.86464|0.86464	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		24	63	0	0	0	1	0	24	63				
ULK1	8408	broad.mit.edu	37	12	132404649	132404649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:132404649G>T	ENST00000321867.4	+	26	3280	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*	ULK1_ENST00000540647.1_Nonsense_Mutation_p.E222*	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	977					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCACTGCCGAGAGGCTCAT	0.652																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(2929-2931)Gag>Tag		unc-51 like autophagy activating kinase 1							42.0	40.0	41.0					12																	132404649		2201	4299	6500	SO:0001587	stop_gained	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132404649G>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2929G>T	12.37:g.132404649G>T	ENSP00000324560:p.Glu977*					ULK1_ENST00000540647.1_Nonsense_Mutation_p.E222*	p.E977*	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	26	3280	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		977					Q9UQ28	Nonsense_Mutation	SNP	ENST00000321867.4	37	c.2929G>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163118	0.94727	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-38.1629	18.8065	0.92040	0.0:0.0:1.0:0.0	.	.	.	.	X	977;222	.	ENSP00000324560:E977X	E	+	1	0	ULK1	130970602	1.000000	0.71417	0.932000	0.37286	0.083000	0.17756	9.432000	0.97498	2.440000	0.82611	0.561000	0.74099	GAG		0.652	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			8	28	1	0	9.70103e-10	1	1.09795e-09	8	28				
DNAH1	25981	broad.mit.edu	37	3	52406980	52406980	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52406980C>A	ENST00000420323.2	+	44	7157	c.6896C>A	c.(6895-6897)cCg>cAg	p.P2299Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2299	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAACATGCCGGCCCTGGAG	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6895-6897)cCg>cAg		dynein, axonemal, heavy chain 1							78.0	85.0	83.0					3																	52406980		2054	4187	6241	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52406980C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6896C>A	3.37:g.52406980C>A	ENSP00000401514:p.Pro2299Gln						p.P2299Q	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7157	+			2299			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6896C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015574	0.93404	.	.	ENSG00000114841	ENST00000420323	T	0.53640	0.61	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000167	D	0.82536	0.5058	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90453	0.4440	10	0.87932	D	0	.	18.0428	0.89323	0.0:1.0:0.0:0.0	.	2299	C9JXH6	.	Q	2299	ENSP00000401514:P2299Q	ENSP00000401514:P2299Q	P	+	2	0	DNAH1	52382020	1.000000	0.71417	0.988000	0.46212	0.809000	0.45718	7.612000	0.82975	2.501000	0.84356	0.655000	0.94253	CCG		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		27	36	1	0	7.01153e-11	1	8.02889e-11	27	36				
LEPR	3953	broad.mit.edu	37	1	66088592	66088592	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:66088592G>T	ENST00000349533.6	+	19	2786	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I|LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000371060.3_Missense_Mutation_p.M867I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTGTAGAATGAAAAAGCTAT	0.358																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2599-2601)atG>atT		leptin receptor							85.0	85.0	85.0					1																	66088592		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66088592G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2601G>T	1.37:g.66088592G>T	ENSP00000330393:p.Met867Ile					LEPR_ENST00000371060.3_Missense_Mutation_p.M867I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I|LEPR_ENST00000371059.3_Missense_Mutation_p.M867I	p.M867I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	19	2786	+			867					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2601G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707918	0.68615	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.66460	0.08;-0.21;0.09;0.33;0.08	5.08	5.08	0.68730	.	0.036463	0.85682	D	0.000000	T	0.77718	0.4172	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.993;0.997;0.996	T	0.78231	-0.2284	10	0.52906	T	0.07	-21.6891	18.8318	0.92143	0.0:0.0:1.0:0.0	.	867;867;867	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	867	ENSP00000340884:M867I;ENSP00000330393:M867I;ENSP00000360099:M867I;ENSP00000360098:M867I;ENSP00000360097:M867I	ENSP00000340884:M867I	M	+	3	0	LEPR	65861180	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	6.974000	0.76122	2.495000	0.84180	0.650000	0.86243	ATG		0.358	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		16	29	1	0	9.16793e-09	1	1.02568e-08	16	29				
LGSN	51557	broad.mit.edu	37	6	63990815	63990815	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:63990815C>A	ENST00000370657.4	-	4	674	c.641G>T	c.(640-642)gGt>gTt	p.G214V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	214					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCGGGCACACCAAAAATGCA	0.403																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(640-642)gGt>gTt		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						45.0	51.0	49.0					6																	63990815		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990815C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.641G>T	6.37:g.63990815C>A	ENSP00000359691:p.Gly214Val					LGSN_ENST00000370658.5_Intron	p.G214V			Q5TDP6	LGSN_HUMAN			4	674	-			214					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.641G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872170	0.17322	.	.	ENSG00000146166	ENST00000370657	D	0.86432	-2.12	5.7	4.83	0.62350	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.135826	0.64402	D	0.000002	T	0.81312	0.4796	L	0.59912	1.85	0.80722	D	1	B	0.23540	0.087	B	0.30316	0.114	T	0.81202	-0.1040	10	0.72032	D	0.01	-5.9777	15.7531	0.78001	0.0:0.8632:0.1368:0.0	.	214	Q5TDP6	LGSN_HUMAN	V	214	ENSP00000359691:G214V	ENSP00000359691:G214V	G	-	2	0	LGSN	64048774	1.000000	0.71417	0.984000	0.44739	0.152000	0.21847	5.771000	0.68881	1.390000	0.46547	0.650000	0.86243	GGT		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		14	48	1	0	0.000151284	1	0.000157487	14	48				
WDR47	22911	broad.mit.edu	37	1	109529169	109529169	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109529169G>A	ENST00000369962.3	-	10	2123	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	WDR47_ENST00000357672.3_Missense_Mutation_p.A606V|WDR47_ENST00000361054.3_Missense_Mutation_p.A606V|WDR47_ENST00000400794.3_Missense_Mutation_p.A642V|WDR47_ENST00000369965.4_Missense_Mutation_p.A635V			O94967	WDR47_HUMAN	WD repeat domain 47	634					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCTGGATAGGCACATACTCT	0.378																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1816-1818)gCc>gTc		WD repeat domain 47							92.0	88.0	90.0					1																	109529169		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109529169G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1901C>T	1.37:g.109529169G>A	ENSP00000358979:p.Ala634Val					WDR47_ENST00000361054.3_Missense_Mutation_p.A606V|WDR47_ENST00000400794.3_Missense_Mutation_p.A642V|WDR47_ENST00000369962.3_Missense_Mutation_p.A634V|WDR47_ENST00000369965.4_Missense_Mutation_p.A635V	p.A606V			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	9	2192	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	634					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1817C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905939	0.72868	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.06	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058176	0.64402	D	0.000002	T	0.64994	0.2649	N	0.20986	0.625	0.80722	D	1	P;P;P;P	0.43885	0.713;0.536;0.483;0.82	P;B;B;B	0.46339	0.513;0.164;0.122;0.444	T	0.66292	-0.5960	10	0.30078	T	0.28	-11.7443	14.9128	0.70770	0.0:0.1437:0.8563:0.0	.	606;642;634;635	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	V	642;634;606;635;606	ENSP00000383599:A642V;ENSP00000358979:A634V;ENSP00000354339:A606V;ENSP00000358982:A635V;ENSP00000350301:A606V	ENSP00000350301:A606V	A	-	2	0	WDR47	109330692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.462000	0.80851	2.344000	0.79699	0.563000	0.77884	GCC		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		25	49	0	0	0	1	0	25	49				
MROH2B	133558	broad.mit.edu	37	5	41004499	41004499	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:41004499C>G	ENST00000399564.4	-	37	4593	c.4143G>C	c.(4141-4143)gtG>gtC	p.V1381V	MROH2B_ENST00000506092.2_Silent_p.V936V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1381																	AGTAGAAGCTCACGTCTCGGT	0.468																																						ENST00000399564.4																			0											c.(4141-4143)gtG>gtC		maestro heat-like repeat family member 2B							150.0	141.0	144.0					5																	41004499		1900	4118	6018	SO:0001819	synonymous_variant	133558							g.chr5:41004499C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4143G>C	5.37:g.41004499C>G						MROH2B_ENST00000506092.2_Silent_p.V936V	p.V1381V	NM_173489.4	NP_775760.3					37	4593	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.4143G>C	CCDS47202.1																																																																																				0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		28	109	0	0	0	1	0	28	109				
CAMK1G	57172	broad.mit.edu	37	1	209782338	209782338	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:209782338C>G	ENST00000009105.1	+	8	894	c.649C>G	c.(649-651)Ccc>Gcc	p.P217A	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.P217A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGTGGATACCCCCCATTCTA	0.512																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(649-651)Ccc>Gcc		calcium/calmodulin-dependent protein kinase IG							111.0	107.0	108.0					1																	209782338		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209782338C>G		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.649C>G	1.37:g.209782338C>G	ENSP00000009105:p.Pro217Ala					CAMK1G_ENST00000361322.2_Missense_Mutation_p.P217A|CAMK1G_ENST00000494990.1_3'UTR	p.P217A			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	8	894	+			217			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.649C>G	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602808	0.66445	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.44482	0.92;0.92	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000055	T	0.55986	0.1955	L	0.52573	1.65	0.80722	D	1	D;D	0.63046	0.992;0.985	P;P	0.56278	0.692;0.795	T	0.58154	-0.7686	10	0.87932	D	0	.	19.3515	0.94389	0.0:1.0:0.0:0.0	.	217;217	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	A	217	ENSP00000009105:P217A;ENSP00000354861:P217A	ENSP00000009105:P217A	P	+	1	0	CAMK1G	207848961	1.000000	0.71417	0.963000	0.40424	0.240000	0.25518	7.538000	0.82048	2.593000	0.87608	0.561000	0.74099	CCC		0.512	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		24	122	0	0	0	1	0	24	122				
RBP3	5949	broad.mit.edu	37	10	48389980	48389980	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:48389980C>A	ENST00000224600.4	-	1	1011	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	300	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCAGCACCCCGCTGCCCTCC	0.677																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(898-900)Ggg>Tgg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						22.0	22.0	22.0					10																	48389980		2199	4297	6496	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389980C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.898G>T	10.37:g.48389980C>A	ENSP00000224600:p.Gly300Trp						p.G300W	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1011	-			300			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.898G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998657	0.74818	.	.	ENSG00000107618	ENST00000224600	D	0.90900	-2.75	5.43	4.52	0.55395	Interphotoreceptor retinol-binding (2);	0.057739	0.64402	D	0.000003	D	0.96642	0.8904	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97326	0.9947	10	0.87932	D	0	-33.4961	12.9911	0.58618	0.0:0.9224:0.0:0.0776	.	300	P10745	RET3_HUMAN	W	300	ENSP00000224600:G300W	ENSP00000224600:G300W	G	-	1	0	RBP3	48009986	1.000000	0.71417	0.861000	0.33841	0.977000	0.68977	5.501000	0.66950	1.304000	0.44892	0.561000	0.74099	GGG		0.677	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		18	35	1	0	1.56452e-12	1	1.82736e-12	18	35				
TMEM31	203562	broad.mit.edu	37	X	102968635	102968635	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:102968635A>T	ENST00000319560.6	+	3	407	c.216A>T	c.(214-216)gaA>gaT	p.E72D	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	72						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACCTTCTTGAAGTCCTTCCGT	0.478																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(214-216)gaA>gaT		transmembrane protein 31							300.0	213.0	242.0					X																	102968635		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968635A>T	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.216A>T	X.37:g.102968635A>T	ENSP00000316940:p.Glu72Asp					GLRA4_ENST00000372617.4_Intron	p.E72D	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	407	+			72					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.216A>T	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980397	0.18812	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.81	2.19	0.27852	.	1.562980	0.04170	N	0.324580	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20907	-1.0261	9	0.12766	T	0.61	0.18	6.2855	0.21031	0.5856:0.0:0.0:0.4144	.	72	Q5JXX7	TMM31_HUMAN	D	72	.	ENSP00000316940:E72D	E	+	3	2	TMEM31	102855291	0.017000	0.18338	0.001000	0.08648	0.025000	0.11179	0.922000	0.28734	0.735000	0.32537	0.481000	0.45027	GAA		0.478	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		57	27	0	0	0	1	0	57	27				
GTPBP1	9567	broad.mit.edu	37	22	39123305	39123305	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:39123305C>G	ENST00000216044.5	+	9	1722	c.1489C>G	c.(1489-1491)Ctc>Gtc	p.L497V		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	497					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCCGAGATTCTCGTCCTCCA	0.597																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1489-1491)Ctc>Gtc		GTP binding protein 1							109.0	90.0	97.0					22																	39123305		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39123305C>G	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1489C>G	22.37:g.39123305C>G	ENSP00000216044:p.Leu497Val						p.L497V	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			9	1722	+	Melanoma(58;0.04)		497					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1489C>G	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104875	0.56291	.	.	ENSG00000100226	ENST00000216044;ENST00000458073	T	0.34859	1.34	5.06	5.06	0.68205	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.35288	1.05	0.80722	D	1	D	0.56746	0.977	D	0.63877	0.919	T	0.14090	-1.0485	10	0.35671	T	0.21	.	12.011	0.53286	0.0:0.9214:0.0:0.0786	.	497	O00178	GTPB1_HUMAN	V	497;75	ENSP00000216044:L497V	ENSP00000216044:L497V	L	+	1	0	GTPBP1	37453251	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.783000	0.62403	2.627000	0.88993	0.467000	0.42956	CTC		0.597	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		4	73	0	0	0	1	0	4	73				
PCDHB5	26167	broad.mit.edu	37	5	140516082	140516082	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516082C>A	ENST00000231134.5	+	1	1283	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCTACCCCAGAAAATGC	0.522																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1066-1068)Cca>Aca									90.0	97.0	94.0					5																	140516082		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516082C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1066C>A	5.37:g.140516082C>A	ENSP00000231134:p.Pro356Thr						p.P356T	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1283	+			356			Cadherin 4.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1066C>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727799	0.30593	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.73469	-0.75	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.88247	0.6385	M	0.91612	3.225	0.34495	D	0.705435	D	0.62365	0.991	D	0.70227	0.968	D	0.92881	0.6323	9	0.56958	D	0.05	.	14.6138	0.68534	0.0:0.8543:0.1457:0.0	.	356	Q9Y5E4	PCDB5_HUMAN	T	356;140	ENSP00000231134:P356T	ENSP00000231134:P356T	P	+	1	0	PCDHB5	140496266	0.000000	0.05858	0.960000	0.40013	0.065000	0.16274	1.115000	0.31209	2.577000	0.86979	0.555000	0.69702	CCA		0.522	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		52	52	1	0	1.30409e-13	1	1.5511e-13	52	52				
DCLRE1C	64421	broad.mit.edu	37	10	14977537	14977537	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:14977537G>T	ENST00000378278.2	-	6	426	c.389C>A	c.(388-390)aCt>aAt	p.T130N	DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15N			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	130					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACAGGACAGTTCCATTATT	0.443								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(28-30)aCt>aAt	Non-homologous end-joining	DNA cross-link repair 1C							91.0	95.0	94.0					10																	14977537		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14977537G>T	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.389C>A	10.37:g.14977537G>T	ENSP00000367527:p.Thr130Asn					DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T130N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130N	p.T10N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			6	473	-			130					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.29C>A	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.353496	0.61293	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378241;ENST00000456122	T;T;T;T;T;T;T;T;T;T;T;T	0.79033	-1.1;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-1.1;-0.92;-0.72;-1.23	5.65	5.65	0.86999	Beta-lactamase-like (1);	0.044093	0.85682	D	0.000000	T	0.79370	0.4434	N	0.21617	0.685	0.53005	D	0.999969	B;D;B	0.56521	0.005;0.976;0.211	B;P;B	0.56960	0.014;0.81;0.208	T	0.80004	-0.1564	10	0.51188	T	0.08	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	130;15;130	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	N	130;10;15;15;15;10;10;10;130;10;10;15	ENSP00000367538:T130N;ENSP00000400529:T10N;ENSP00000367492:T15N;ENSP00000350349:T15N;ENSP00000367496:T15N;ENSP00000380030:T10N;ENSP00000367503:T10N;ENSP00000367502:T10N;ENSP00000367527:T130N;ENSP00000367506:T10N;ENSP00000367487:T10N;ENSP00000413180:T15N	ENSP00000350349:T15N	T	-	2	0	DCLRE1C	15017543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.909000	0.63314	2.827000	0.97445	0.650000	0.86243	ACT		0.443	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		56	125	1	0	3.28156e-27	1	4.38542e-27	56	125				
UBA7	7318	broad.mit.edu	37	3	49850743	49850743	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:49850743C>G	ENST00000333486.3	-	3	457	c.299G>C	c.(298-300)aGa>aCa	p.R100T	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	100	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGACAGCTCTGTTGAGCTG	0.592																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(298-300)aGa>aCa		ubiquitin-like modifier activating enzyme 7							76.0	75.0	75.0					3																	49850743		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49850743C>G	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.299G>C	3.37:g.49850743C>G	ENSP00000333266:p.Arg100Thr					UBA7_ENST00000494212.1_5'UTR	p.R100T	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	457	-			100			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.299G>C	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123971	0.20959	.	.	ENSG00000182179	ENST00000333486	T	0.41758	0.99	5.01	1.92	0.25849	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.873413	0.10342	N	0.686172	T	0.24509	0.0594	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25641	-1.0126	10	0.34782	T	0.22	2.1189	0.8477	0.01165	0.1516:0.3084:0.1716:0.3685	.	100	P41226	UBA7_HUMAN	T	100	ENSP00000333266:R100T	ENSP00000333266:R100T	R	-	2	0	UBA7	49825747	0.000000	0.05858	0.028000	0.17463	0.733000	0.41908	0.092000	0.15066	0.123000	0.18342	0.462000	0.41574	AGA		0.592	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	34	0	0	0	1	0	4	34				
TNS3	64759	broad.mit.edu	37	7	47408863	47408863	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:47408863G>T	ENST00000398879.1	-	17	1746	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Silent_p.A460A			Q68CZ2	TENS3_HUMAN	tensin 3	460					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTGAACCTGGGCTGGCACCA	0.577																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1378-1380)gcC>gcA		tensin 3							67.0	72.0	70.0					7																	47408863		2159	4254	6413	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47408863G>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1380C>A	7.37:g.47408863G>T						TNS3_ENST00000311160.9_Silent_p.A460A|TNS3_ENST00000355730.3_Intron	p.A460A			Q68CZ2	TENS3_HUMAN			17	1746	-			460					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1380C>A	CCDS5506.2																																																																																				0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		22	43	1	0	2.37509e-13	1	2.8078e-13	22	43				
RDH8	50700	broad.mit.edu	37	19	10132278	10132278	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:10132278G>A	ENST00000171214.1	+	6	1038	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RDH8_ENST00000591589.1_Silent_p.P283P	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	263					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTACTCGCCGCTGACCACGC	0.627																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(847-849)ccG>ccA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						107.0	101.0	103.0					19																	10132278		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132278G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.789G>A	19.37:g.10132278G>A						RDH8_ENST00000171214.1_Silent_p.P263P	p.P283P			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	1038	+			263					Q9H838	Silent	SNP	ENST00000171214.1	37	c.849G>A																																																																																					0.627	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				29	39	0	0	0	1	0	29	39				
CHRNA9	55584	broad.mit.edu	37	4	40337875	40337875	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:40337875G>C	ENST00000310169.2	+	2	235	c.96G>C	c.(94-96)caG>caC	p.Q32H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	32					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AATATGCTCAGAAGTTGTTTA	0.403																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(94-96)caG>caC		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						158.0	150.0	153.0					4																	40337875		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40337875G>C	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.96G>C	4.37:g.40337875G>C	ENSP00000312663:p.Gln32His						p.Q32H	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			2	235	+			32					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.96G>C	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	7.958	0.746265	0.15710	.	.	ENSG00000174343	ENST00000310169	T	0.78126	-1.15	5.76	4.02	0.46733	Neurotransmitter-gated ion-channel ligand-binding (3);	0.099878	0.64402	D	0.000001	T	0.63462	0.2513	N	0.17674	0.51	0.48341	D	0.999633	B	0.14805	0.011	B	0.23852	0.049	T	0.60606	-0.7230	10	0.49607	T	0.09	.	9.1195	0.36778	0.1215:0.2269:0.6516:0.0	.	32	Q9UGM1	ACHA9_HUMAN	H	32	ENSP00000312663:Q32H	ENSP00000312663:Q32H	Q	+	3	2	CHRNA9	40032632	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	0.367000	0.20382	1.445000	0.47624	0.467000	0.42956	CAG		0.403	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	59	0	0	0	1	0	5	59				
PCSK2	5126	broad.mit.edu	37	20	17446187	17446187	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:17446187G>A	ENST00000262545.2	+	11	1734	c.1419G>A	c.(1417-1419)gtG>gtA	p.V473V	PCSK2_ENST00000536609.1_Silent_p.V438V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.V454V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	473					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGGCTCCGTGCAGGACCCTG	0.542																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1417-1419)gtG>gtA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						49.0	48.0	49.0					20																	17446187		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446187G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1419G>A	20.37:g.17446187G>A						PCSK2_ENST00000377899.1_Silent_p.V454V|PCSK2_ENST00000536609.1_Silent_p.V438V|PCSK2_ENST00000459871.1_3'UTR	p.V473V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1734	+			473					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1419G>A	CCDS13125.1																																																																																				0.542	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	27	0	0	0	1	0	6	27				
KIAA1244	57221	broad.mit.edu	37	6	138655531	138655531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:138655531G>A	ENST00000251691.4	+	33	5714	c.5548G>A	c.(5548-5550)Gat>Aat	p.D1850N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAGAAGCACGGATTCTTCCCA	0.542																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5548-5550)Gat>Aat		KIAA1244							37.0	35.0	36.0					6																	138655531		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655531G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5548G>A	6.37:g.138655531G>A	ENSP00000251691:p.Asp1850Asn						p.D1850N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5714	+	Breast(32;0.135)		1850						Missense_Mutation	SNP	ENST00000251691.4	37	c.5548G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742639	0.69418	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.14	5.14	0.70334	.	0.716666	0.13845	N	0.358723	T	0.09069	0.0224	L	0.29908	0.895	0.80722	D	1	P	0.36282	0.546	B	0.34722	0.188	T	0.23619	-1.0183	10	0.17832	T	0.49	-18.6145	18.6003	0.91247	0.0:0.0:1.0:0.0	.	1850	Q5TH69	BIG3_HUMAN	N	1850;15	ENSP00000251691:D1850N	ENSP00000251691:D1850N	D	+	1	0	KIAA1244	138697224	1.000000	0.71417	0.072000	0.20136	0.937000	0.57800	9.171000	0.94802	2.406000	0.81754	0.411000	0.27672	GAT		0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	13	0	0	0	1	0	6	13				
STEAP3	55240	broad.mit.edu	37	2	120005678	120005678	+	Missense_Mutation	SNP	G	G	A	rs139027075		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120005678G>A	ENST00000354888.5	+	4	1420	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	STEAP3_ENST00000393108.2_Missense_Mutation_p.G306R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.G306R|STEAP3_ENST00000409811.1_Missense_Mutation_p.G306R|STEAP3_ENST00000450943.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393110.2_Missense_Mutation_p.G316R|STEAP3_ENST00000393106.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393107.2_Missense_Mutation_p.G306R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	306	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGCAGATCGGGCTGCTCAG	0.692																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(916-918)Ggg>Agg		STEAP family member 3, metalloreductase		G	ARG/GLY,ARG/GLY,ARG/GLY	1,4393		0,1,2196	28.0	25.0	26.0		916,916,946	4.5	1.0	2	dbSNP_134	26	0,8578		0,0,4289	no	missense,missense,missense	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	125,125,125	0,1,6485	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging	306/489,306/489,316/499	120005678	1,12971	2197	4289	6486	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005678G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.916G>A	2.37:g.120005678G>A	ENSP00000346961:p.Gly306Arg					STEAP3_ENST00000450943.2_Missense_Mutation_p.G306R|STEAP3_ENST00000409811.1_Missense_Mutation_p.G306R|STEAP3_ENST00000393107.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393108.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393110.2_Missense_Mutation_p.G316R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393106.2_Missense_Mutation_p.G306R	p.G306R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1420	+			306			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.916G>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936535	0.92458	2.28E-4	0.0	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	4.49	4.49	0.54785	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86864	2.845	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	D	0.98784	1.0733	9	.	.	.	-34.1168	16.3446	0.83118	0.0:0.0:1.0:0.0	.	306;316;306	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	R	306;306;306;316;306;306;306;306	ENSP00000376820:G306R;ENSP00000346961:G306R;ENSP00000396873:G306R;ENSP00000376822:G316R;ENSP00000376818:G306R;ENSP00000386510:G306R;ENSP00000376819:G306R;ENSP00000396214:G306R	.	G	+	1	0	STEAP3	119722148	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	9.657000	0.98554	2.341000	0.79615	0.462000	0.41574	GGG		0.692	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		4	42	0	0	0	1	0	4	42				
ARHGEF19	128272	broad.mit.edu	37	1	16531875	16531875	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:16531875C>A	ENST00000270747.3	-	10	1763	c.1627G>T	c.(1627-1629)Gcc>Tcc	p.A543S	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTGGTGGCCATGTCTTCG	0.617																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1627-1629)Gcc>Tcc		Rho guanine nucleotide exchange factor (GEF) 19							85.0	72.0	76.0					1																	16531875		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16531875C>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1627G>T	1.37:g.16531875C>A	ENSP00000270747:p.Ala543Ser					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	p.A543S	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	10	1763	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	543			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1627G>T	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.489223|4.489223	0.84962|0.84962	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.63417|.	-0.04|.	4.64|4.64	4.64|4.64	0.57946|0.57946	Dbl homology (DH) domain (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	D|.	0.56287|.	0.975|.	D|.	0.67548|.	0.952|.	T|T	0.73802|0.73802	-0.3868|-0.3868	10|5	0.72032|.	D|.	0.01|.	.|.	14.9916|14.9916	0.71393|0.71393	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	543|.	Q8IW93|.	ARHGJ_HUMAN|.	S|C	543|231	ENSP00000270747:A543S|.	ENSP00000270747:A543S|.	A|W	-|-	1|3	0|0	ARHGEF19|ARHGEF19	16404462|16404462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.266000|6.266000	0.72540|0.72540	2.119000|2.119000	0.64992|0.64992	0.561000|0.561000	0.74099|0.74099	GCC|TGG		0.617	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		12	28	1	0	1.3612e-06	1	1.45861e-06	12	28				
VGLL2	245806	broad.mit.edu	37	6	117586936	117586936	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117586936C>T	ENST00000326274.5	+	1	200	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	VGLL2_ENST00000352536.3_Silent_p.L4L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	4					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CATGAGCTGTCTGGATGTTAT	0.582																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(10-12)Ctg>Ttg		vestigial like 2 (Drosophila)							109.0	90.0	97.0					6																	117586936		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117586936C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.10C>T	6.37:g.117586936C>T						VGLL2_ENST00000352536.3_Silent_p.L4L	p.L4L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	200	+			4					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.10C>T	CCDS5115.1																																																																																				0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		7	26	0	0	0	1	0	7	26				
HRNR	388697	broad.mit.edu	37	1	152188305	152188305	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152188305A>G	ENST00000368801.2	-	3	5875	c.5800T>C	c.(5800-5802)Ttg>Ctg	p.L1934L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1934					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGGCCCAAAGACTGACGG	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5800-5802)Ttg>Ctg		hornerin							111.0	169.0	150.0					1																	152188305		2084	4246	6330	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188305A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5800T>C	1.37:g.152188305A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L1934L	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5875	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1934					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5800T>C	CCDS30859.1																																																																																				0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		47	1593	0	0	0	1	0	47	1593				
OR1I1	126370	broad.mit.edu	37	19	15197928	15197928	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:15197928T>A	ENST00000209540.2	+	1	138	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCAGGGACTCTCAGAAAAGCC	0.468																																						ENST00000209540.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(52-54)Tca>Aca		olfactory receptor, family 1, subfamily I, member 1							164.0	157.0	159.0					19																	15197928		2203	4300	6503	SO:0001583	missense	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15197928T>A	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.52T>A	19.37:g.15197928T>A	ENSP00000209540:p.Ser18Thr						p.S18T	NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN			1	138	+			18					Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	c.52T>A	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	t	9.235	1.036894	0.19669	.	.	ENSG00000094661	ENST00000209540	T	0.00433	7.43	4.98	2.85	0.33270	.	0.787937	0.09912	N	0.739657	T	0.00440	0.0014	M	0.70108	2.13	0.25928	N	0.983038	B	0.28667	0.219	B	0.23275	0.045	T	0.41088	-0.9528	10	0.56958	D	0.05	.	8.8374	0.35119	0.2841:0.0:0.0:0.7159	.	18	O60431	OR1I1_HUMAN	T	18	ENSP00000209540:S18T	ENSP00000209540:S18T	S	+	1	0	OR1I1	15058928	0.000000	0.05858	0.952000	0.39060	0.306000	0.27790	-0.431000	0.06965	0.354000	0.24105	0.533000	0.62120	TCA		0.468	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			21	45	0	0	0	1	0	21	45				
TPTE	7179	broad.mit.edu	37	21	10941928	10941928	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:10941928A>C	ENST00000361285.4	-	14	1104	c.775T>G	c.(775-777)Ttc>Gtc	p.F259V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F221V|TPTE_ENST00000298232.7_Missense_Mutation_p.F241V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	259	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)			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)		TTTCTATAGAAAGACTGCCTT	0.313																																						ENST00000298232.7																			0				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						c.(721-723)Ttc>Gtc		transmembrane phosphatase with tensin homology							219.0	211.0	213.0					21																	10941928		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10941928A>C	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.775T>G	21.37:g.10941928A>C	ENSP00000355208:p.Phe259Val					TPTE_ENST00000361285.4_Missense_Mutation_p.F259V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F221V	p.F241V	NM_199259.2	NP_954868.1	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)	13	1088	-			259			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.721T>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	4.903	0.167726	0.09339	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98296	-4.85;-4.85;-4.85	1.8	1.8	0.24995	Phosphatase tensin type (1);	0.117430	0.64402	U	0.000015	D	0.95404	0.8508	L	0.42581	1.335	0.48511	D	0.99966	B;B;B	0.31383	0.321;0.082;0.025	B;B;B	0.35550	0.205;0.059;0.05	D	0.92291	0.5841	10	0.34782	T	0.22	-4.58	7.6104	0.28126	1.0:0.0:0.0:0.0	.	221;241;259	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	241;259;221	ENSP00000298232:F241V;ENSP00000355208:F259V;ENSP00000344441:F221V	ENSP00000298232:F241V	F	-	1	0	TPTE	9963799	1.000000	0.71417	0.630000	0.29268	0.098000	0.18820	2.571000	0.45990	1.084000	0.41184	0.163000	0.16589	TTC		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			48	398	0	0	0	1	0	48	398				
GSTM4	2948	broad.mit.edu	37	1	110201531	110201531	+	Splice_Site	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:110201531G>A	ENST00000369836.4	+	6	765	c.456G>A	c.(454-456)aaG>aaA	p.K152K	GSTM4_ENST00000369833.1_Splice_Site_p.K111K|GSTM4_ENST00000326729.5_Splice_Site_p.K152K|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Splice_Site_p.K91K	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	152	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTGGAGACAAGGTAATGGGGG	0.483																																						ENST00000369833.1																			0				endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.e4+1		glutathione S-transferase mu 4	Glutathione(DB00143)						250.0	235.0	240.0					1																	110201531		2203	4300	6503	SO:0001630	splice_region_variant	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110201531G>A	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.456+1G>A	1.37:g.110201531G>A						GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Splice_Site_p.K91_splice|GSTM4_ENST00000326729.5_Splice_Site_p.K152_splice|GSTM4_ENST00000369836.4_Splice_Site_p.K152_splice	p.K111_splice			Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	4	1247	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	152			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Splice_Site	SNP	ENST00000369836.4	37	c.333_splice	CCDS807.1																																																																																				0.483	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850	Silent	10	184	0	0	0	1	0	10	184				
TTN	7273	broad.mit.edu	37	2	179574494	179574494	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179574494C>G	ENST00000591111.1	-	97	27825	c.27601G>C	c.(27601-27603)Gct>Cct	p.A9201P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8274P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A9518P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13324	Ig-like 75.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAACCAGCCACACGTCCC	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(28552-28554)Gct>Cct		titin							118.0	121.0	120.0					2																	179574494		1852	4088	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179574494C>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.27601G>C	2.37:g.179574494C>G	ENSP00000465570:p.Ala9201Pro					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8274P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9201P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	p.A9518P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	28776	-			9201					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.28552G>C		.	.	.	.	.	.	.	.	.	.	C	13.37	2.217947	0.39201	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80423	0.4620	M	0.82323	2.585	0.80722	D	1	D	0.58970	0.984	P	0.57679	0.825	T	0.82930	-0.0213	9	0.87932	D	0	.	15.5735	0.76356	0.2024:0.7976:0.0:0.0	.	9201	Q8WZ42	TITIN_HUMAN	P	8274	ENSP00000343764:A8274P	ENSP00000343764:A8274P	A	-	1	0	TTN	179282739	0.570000	0.26651	0.990000	0.47175	0.999000	0.98932	1.149000	0.31626	2.793000	0.96121	0.655000	0.94253	GCT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	118	0	0	0	1	0	64	118				
HNRNPM	4670	broad.mit.edu	37	19	8531242	8531242	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531242G>C	ENST00000325495.4	+	7	795	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	HNRNPM_ENST00000348943.3_Missense_Mutation_p.E213Q	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	252	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGTTACTTTTGAACAGTCCAT	0.393																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(637-639)Gaa>Caa		heterogeneous nuclear ribonucleoprotein M							145.0	136.0	139.0					19																	8531242		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8531242G>C	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.754G>C	19.37:g.8531242G>C	ENSP00000325376:p.Glu252Gln					HNRNPM_ENST00000325495.4_Missense_Mutation_p.E252Q	p.E213Q	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			8	869	+			252			RRM 2.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.637G>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133771	0.94517	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.18960	2.18;2.18	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095139	0.64402	D	0.000001	T	0.42268	0.1195	L	0.47016	1.485	0.80722	D	1	P;P;D;P;D	0.89917	0.469;0.732;1.0;0.941;0.995	B;P;D;P;D	0.80764	0.338;0.653;0.994;0.716;0.961	T	0.17137	-1.0379	10	0.87932	D	0	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	92;252;213;213;152	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	Q	252;213;152	ENSP00000325376:E252Q;ENSP00000325732:E213Q	ENSP00000325376:E252Q	E	+	1	0	HNRNPM	8437242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	GAA		0.393	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			9	144	0	0	0	1	0	9	144				
ALAS1	211	broad.mit.edu	37	3	52245381	52245381	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52245381C>T	ENST00000394965.2	+	10	1773	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ALAS1_ENST00000310271.2_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000484952.1_Silent_p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CTGCTGGCTTCATCTTCACCA	0.597																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1411-1413)ttC>ttT		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						147.0	117.0	127.0					3																	52245381		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52245381C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1413C>T	3.37:g.52245381C>T						ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000310271.2_Silent_p.F471F	p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	10	1773	+			471						Silent	SNP	ENST00000394965.2	37	c.1413C>T	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105873	0.20632	.	.	ENSG00000023330	ENST00000493402	.	.	.	5.86	4.08	0.47627	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56372	-0.7990	4	.	.	.	-22.0803	8.1934	0.31381	0.0:0.7109:0.0:0.2891	.	.	.	.	L	68	.	.	S	+	2	0	ALAS1	52220421	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.323000	0.33701	1.496000	0.48567	-0.133000	0.14855	TCA		0.597	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			4	33	0	0	0	1	0	4	33				
CAPRIN2	65981	broad.mit.edu	37	12	30873754	30873754	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:30873754C>G	ENST00000298892.5	-	12	2889	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E713D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E380D|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E713D	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTCAGGAGTCTCTGAGGTCA	0.373																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2137-2139)gaG>gaC		caprin family member 2							85.0	88.0	87.0					12																	30873754		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873754C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2139G>C	12.37:g.30873754C>G	ENSP00000298892:p.Glu713Asp					CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E713D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E380D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E713D	p.E713D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			12	2889	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		713						Missense_Mutation	SNP	ENST00000298892.5	37	c.2139G>C	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101076	0.56183	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	2.27;1.99;2.27;2.27;2.27;2.27	5.45	4.55	0.56014	.	0.469864	0.22900	N	0.054277	T	0.16981	0.0408	N	0.25647	0.755	0.31249	N	0.694307	P;B;B;B	0.52316	0.952;0.062;0.05;0.062	P;B;B;B	0.45881	0.496;0.055;0.032;0.081	T	0.02713	-1.1120	10	0.25106	T	0.35	-7.2229	10.9953	0.47571	0.0:0.9148:0.0:0.0852	.	713;713;713;713	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	D	459;713;713;380;713;632	ENSP00000415407:E459D;ENSP00000298892:E713D;ENSP00000251071:E713D;ENSP00000309785:E380D;ENSP00000391479:E713D;ENSP00000438010:E632D	ENSP00000251071:E713D	E	-	3	2	CAPRIN2	30765021	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.387000	0.34430	2.553000	0.86117	0.591000	0.81541	GAG		0.373	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		49	63	0	0	0	1	0	49	63				
AIMP2	7965	broad.mit.edu	37	7	6049120	6049120	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:6049120C>T	ENST00000223029.3	+	1	245	c.126C>T	c.(124-126)ggC>ggT	p.G42G	PMS2_ENST00000469652.1_5'Flank|PMS2_ENST00000406569.3_5'Flank|AIMP2_ENST00000395236.2_Silent_p.G42G|PMS2_ENST00000265849.7_5'Flank|PMS2_ENST00000382321.4_5'Flank|AIMP2_ENST00000400479.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	42					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGGCGCTGGCCACGTGCAGG	0.771																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(124-126)ggC>ggT		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							15.0	16.0	16.0					7																	6049120		2178	4253	6431	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6049120C>T	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.126C>T	7.37:g.6049120C>T						AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.G42G	p.G42G	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			1	245	+			42					Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.126C>T	CCDS5344.1																																																																																				0.771	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		14	30	0	0	0	1	0	14	30				
VPS39	23339	broad.mit.edu	37	15	42470704	42470704	+	Silent	SNP	C	C	T	rs138294459		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:42470704C>T	ENST00000348544.4	-	10	815	c.816G>A	c.(814-816)ccG>ccA	p.P272P	VPS39_ENST00000318006.5_Silent_p.P261P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	272	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCAGAAGCCTCGGTTCAAATG	0.453																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(781-783)ccG>ccA		vacuolar protein sorting 39 homolog (S. cerevisiae)		C		0,4406		0,0,2203	106.0	100.0	102.0		783	-10.4	0.1	15	dbSNP_134	102	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	VPS39	NM_015289.2		0,4,6498	TT,TC,CC		0.0465,0.0,0.0308		261/876	42470704	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42470704C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.816G>A	15.37:g.42470704C>T						VPS39_ENST00000348544.4_Silent_p.P272P	p.P261P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	9	945	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	272			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.783G>A	CCDS10083.1																																																																																				0.453	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		36	67	0	0	0	1	0	36	67				
ARHGAP32	9743	broad.mit.edu	37	11	128840371	128840371	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:128840371G>A	ENST00000310343.9	-	22	4694	c.4695C>T	c.(4693-4695)gtC>gtT	p.V1565V	ARHGAP32_ENST00000527272.1_Silent_p.V1216V|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.V1216V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1565	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGTATTCCTGACAGAGGAGC	0.532																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4693-4695)gtC>gtT		Rho GTPase activating protein 32							81.0	70.0	74.0					11																	128840371		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840371G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4695C>T	11.37:g.128840371G>A						ARHGAP32_ENST00000527272.1_Silent_p.V1216V|ARHGAP32_ENST00000392657.3_Silent_p.V1216V|ARHGAP32_ENST00000524655.1_3'UTR	p.V1565V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4694	-			1565			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.4695C>T	CCDS44769.1																																																																																				0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		17	44	0	0	0	1	0	17	44				
KIAA1217	56243	broad.mit.edu	37	10	24832592	24832592	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:24832592G>A	ENST00000376454.3	+	19	4423	c.4393G>A	c.(4393-4395)Gag>Aag	p.E1465K	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E1148K|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1465					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AACTATCTTTGAGGAATGTGA	0.438																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3442-3444)Gag>Aag		KIAA1217							71.0	66.0	68.0					10																	24832592		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832592G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4393G>A	10.37:g.24832592G>A	ENSP00000365637:p.Glu1465Lys					KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1465K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron	p.E1148K			Q5T5P2	SKT_HUMAN			14	3702	+			1465					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.3442G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463223	0.63513	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.51574	1.16;0.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.59526	-0.7438	10	0.22109	T	0.4	.	19.4543	0.94882	0.0:0.0:1.0:0.0	.	1148;1148;1465	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	K	1148;1465;1148;1148	ENSP00000365637:E1465K;ENSP00000365634:E1148K	ENSP00000365634:E1148K	E	+	1	0	KIAA1217	24872598	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	6.769000	0.74985	2.601000	0.87937	0.561000	0.74099	GAG		0.438	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		20	46	0	0	0	1	0	20	46				
PAX8	7849	broad.mit.edu	37	2	113984752	113984752	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:113984752G>A	ENST00000429538.3	-	10	1363	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	PAX8_ENST00000263334.5_Missense_Mutation_p.P364S|PAX8_ENST00000263335.7_Missense_Mutation_p.P287S|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P364S|AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	390					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCTGCGATGGCAGAGGAGGC	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(1168-1170)gCc>gTc		paired box 8							18.0	21.0	20.0					2																	113984752		2038	4183	6221	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113984752G>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1169C>T	2.37:g.113984752G>A	ENSP00000395498:p.Ala390Val					AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P364S|PAX8_ENST00000348715.5_Missense_Mutation_p.P364S|PAX8_ENST00000263335.7_Missense_Mutation_p.P287S|PAX8_ENST00000397647.3_Intron	p.A390V	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			10	1363	-			390					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.1169C>T	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.696888|4.696888	0.88830|0.88830	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000429538;ENST00000497038|ENST00000263335;ENST00000348715;ENST00000263334	T;T|D;D;D	0.34275|0.97811	1.37;1.37|-4.55;-4.52;-4.52	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.155329|.	0.56097|.	D|.	0.000025|.	D|D	0.97448|0.97448	0.9165|0.9165	.|.	.|.	.|.	0.40016|0.40016	D|D	0.975344|0.975344	D;D|P;P	0.69078|0.51351	0.996;0.997|0.944;0.728	D;D|P;B	0.74348|0.52957	0.971;0.983|0.714;0.26	D|D	0.96662|0.96662	0.9490|0.9490	9|8	0.54805|0.26408	T|T	0.06|0.33	.|.	17.3849|17.3849	0.87413|0.87413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	327;390|364;287	Q06710-2;Q06710|Q06710-3;Q06710-4	.;PAX8_HUMAN|.;.	V|S	390;25|287;364;364	ENSP00000395498:A390V;ENSP00000451618:A25V|ENSP00000263335:P287S;ENSP00000314750:P364S;ENSP00000263334:P364S	ENSP00000395498:A390V|ENSP00000263334:P364S	A|P	-|-	2|1	0|0	PAX8|PAX8	113701223|113701223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.168000|8.168000	0.89670|0.89670	2.780000|2.780000	0.95670|0.95670	0.609000|0.609000	0.83330|0.83330	GCC|CCA		0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			4	5	0	0	0	1	0	4	5				
CHD9	80205	broad.mit.edu	37	16	53272347	53272347	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53272347G>C	ENST00000398510.3	+	11	2813	c.2726G>C	c.(2725-2727)gGa>gCa	p.G909A	CHD9_ENST00000566029.1_Missense_Mutation_p.G909A|CHD9_ENST00000447540.1_Missense_Mutation_p.G909A|CHD9_ENST00000564845.1_Missense_Mutation_p.G909A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	909	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGTATAAGAGGACCTTTCCTG	0.393																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2725-2727)gGa>gCa		chromodomain helicase DNA binding protein 9							164.0	152.0	156.0					16																	53272347		1840	4087	5927	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53272347G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2726G>C	16.37:g.53272347G>C	ENSP00000381522:p.Gly909Ala					CHD9_ENST00000398510.3_Missense_Mutation_p.G909A|CHD9_ENST00000564845.1_Missense_Mutation_p.G909A|CHD9_ENST00000447540.1_Missense_Mutation_p.G909A	p.G909A			Q3L8U1	CHD9_HUMAN			12	2935	+		all_cancers(37;0.0212)	909			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2726G>C		.	.	.	.	.	.	.	.	.	.	G	29.9	5.049288	0.93740	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93906	-3.31;-3.31	5.02	5.02	0.67125	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000030	D	0.96558	0.8877	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.71674	0.96;0.987;0.998;0.998	D;D;D;D	0.70487	0.936;0.969;0.949;0.915	D	0.97169	0.9843	10	0.87932	D	0	-16.7395	18.3513	0.90339	0.0:0.0:1.0:0.0	.	435;909;909;909	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	909;909;435	ENSP00000396345:G909A;ENSP00000381522:G909A	ENSP00000219084:G435A	G	+	2	0	CHD9	51829848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.902000	0.87389	2.334000	0.79466	0.460000	0.39030	GGA		0.393	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		28	83	0	0	0	1	0	28	83				
SDPR	8436	broad.mit.edu	37	2	192711642	192711642	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:192711642C>G	ENST00000304141.4	-	1	339	c.10G>C	c.(10-12)Gac>Cac	p.D4H	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											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)			TGTGCAGCGTCCTCTCCCATG	0.622																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(10-12)Gac>Cac		serum deprivation response	Phosphatidylserine(DB00144)						53.0	55.0	54.0					2																	192711642		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711642C>G	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.10G>C	2.37:g.192711642C>G	ENSP00000305675:p.Asp4His					AC098617.1_ENST00000424116.2_RNA	p.D4H	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	339	-			4						Missense_Mutation	SNP	ENST00000304141.4	37	c.10G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883694	0.72410	.	.	ENSG00000168497	ENST00000304141	T	0.68331	-0.32	4.84	4.84	0.62591	.	0.537726	0.19464	N	0.113640	T	0.79587	0.4471	L	0.60455	1.87	0.47441	D	0.999421	D	0.89917	1.0	D	0.78314	0.991	T	0.80763	-0.1237	10	0.72032	D	0.01	-37.5751	17.2203	0.86955	0.0:1.0:0.0:0.0	.	4	O95810	SDPR_HUMAN	H	4	ENSP00000305675:D4H	ENSP00000305675:D4H	D	-	1	0	SDPR	192419887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.229000	0.65316	2.667000	0.90743	0.555000	0.69702	GAC		0.622	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		21	41	0	0	0	1	0	21	41				
DPPA2	151871	broad.mit.edu	37	3	109023481	109023481	+	Missense_Mutation	SNP	G	G	A	rs151045476	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109023481G>A	ENST00000478945.1	-	7	941	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	232					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTCTGCCGAGAGAAGTCT	0.512													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17970	0.0		0.0	False		,,,				2504	0.0					ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(694-696)tCg>tTg		developmental pluripotency associated 2		G	LEU/SER	10,4396	16.8+/-37.8	0,10,2193	72.0	67.0	69.0		695	3.3	0.0	3	dbSNP_134	69	0,8600		0,0,4300	yes	missense	DPPA2	NM_138815.3	145	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign	232/299	109023481	10,12996	2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023481G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.695C>T	3.37:g.109023481G>A	ENSP00000417710:p.Ser232Leu						p.S232L	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	941	-			232					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.695C>T	CCDS2956.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	4.062	0.009220	0.07912	0.00227	0.0	ENSG00000163530	ENST00000478945	T	0.30714	1.52	5.2	3.3	0.37823	.	1.213820	0.06189	N	0.680963	T	0.09862	0.0242	N	0.00926	-1.1	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.33828	-0.9853	10	0.08599	T	0.76	-0.1226	5.199	0.15254	0.1217:0.2095:0.6688:0.0	.	232	Q7Z7J5	DPPA2_HUMAN	L	232	ENSP00000417710:S232L	ENSP00000417710:S232L	S	-	2	0	DPPA2	110506171	0.005000	0.15991	0.001000	0.08648	0.153000	0.21895	1.597000	0.36729	0.661000	0.30985	0.555000	0.69702	TCG		0.512	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		5	75	0	0	0	1	0	5	75				
CCDC9	26093	broad.mit.edu	37	19	47761887	47761887	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47761887G>T	ENST00000221922.6	+	3	297	c.75G>T	c.(73-75)cgG>cgT	p.R25R		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	25							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCTCTTCGGCGGAAGAATG	0.592																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(73-75)cgG>cgT		coiled-coil domain containing 9							95.0	92.0	93.0					19																	47761887		2203	4300	6503	SO:0001819	synonymous_variant	26093							g.chr19:47761887G>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.75G>T	19.37:g.47761887G>T							p.R25R	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	3	297	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	25						Silent	SNP	ENST00000221922.6	37	c.75G>T	CCDS12698.1																																																																																				0.592	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		31	73	1	0	3.11337e-16	1	3.82781e-16	31	73				
ABCG2	9429	broad.mit.edu	37	4	89052265	89052265	+	Missense_Mutation	SNP	C	C	T	rs528655917		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:89052265C>T	ENST00000237612.3	-	5	1024	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R160Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	160	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q. {ECO:0000269|PubMed:16702730}.		cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCTGTTAATCCGTTCGTTTTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21661	0.001		0.0	False		,,,				2504	0.0					ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(478-480)cGg>cAg		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						271.0	240.0	250.0					4																	89052265		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052265C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.479G>A	4.37:g.89052265C>T	ENSP00000237612:p.Arg160Gln					ABCG2_ENST00000515655.1_Missense_Mutation_p.R160Q	p.R160Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	1024	-		Hepatocellular(203;0.114)	160			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.479G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400446	0.83120	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.90133	-2.62;-2.62	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	L	0.50847	1.595	0.58432	D	0.999999	D;D;P	0.59357	0.985;0.985;0.907	P;P;P	0.53593	0.63;0.73;0.627	D	0.92586	0.6079	10	0.62326	D	0.03	-17.1925	19.0867	0.93206	0.0:1.0:0.0:0.0	.	160;160;160	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	Q	160	ENSP00000426917:R160Q;ENSP00000237612:R160Q	ENSP00000237612:R160Q	R	-	2	0	ABCG2	89271289	1.000000	0.71417	0.851000	0.33527	0.162000	0.22319	4.639000	0.61361	2.677000	0.91161	0.655000	0.94253	CGG		0.423	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		31	127	0	0	0	1	0	31	127				
AHNAK	79026	broad.mit.edu	37	11	62284989	62284989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284989C>A	ENST00000378024.4	-	5	17174	c.16900G>T	c.(16900-16902)Gga>Tga	p.G5634*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				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)			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)				GCCTGGAGTCCAATCTGACCT	0.493																																						ENST00000378024.4																			0				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						c.(16900-16902)Gga>Tga		AHNAK nucleoprotein							94.0	107.0	102.0					11																	62284989		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62284989C>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.16900G>T	11.37:g.62284989C>A	ENSP00000367263:p.Gly5634*					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G5634*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17174	-		Melanoma(852;0.155)	5634			Gly-rich.		A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.16900G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	57	29.402573	0.99975	.	.	ENSG00000124942	ENST00000378024	.	.	.	5.09	5.09	0.68999	.	0.161807	0.28736	U	0.014302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	0.0156	10.1741	0.42929	0.0:0.8708:0.0:0.1292	.	.	.	.	X	5634	.	ENSP00000367263:G5634X	G	-	1	0	AHNAK	62041565	0.059000	0.20769	0.942000	0.38095	0.897000	0.52465	2.747000	0.47475	2.358000	0.79984	0.637000	0.83480	GGA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		52	88	1	0	1.57914e-17	1	1.96635e-17	52	88				
ZNF492	57615	broad.mit.edu	37	19	22847473	22847473	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22847473G>T	ENST00000456783.2	+	4	1246	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCTGGAGAGAAACCCTACA	0.373																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)gaG>gaT		zinc finger protein 492							15.0	17.0	16.0					19																	22847473		2008	4198	6206	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847473G>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1002G>T	19.37:g.22847473G>T	ENSP00000413660:p.Glu334Asp						p.E334D	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1246	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	334					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1002G>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.367965	0.42003	.	.	ENSG00000229676	ENST00000456783	T	0.26810	1.71	1.12	-0.396	0.12427	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18759	0.0450	N	0.17594	0.5	0.26681	N	0.971539	B	0.34290	0.447	B	0.43536	0.423	T	0.35101	-0.9802	9	0.72032	D	0.01	.	5.3396	0.15976	0.2464:0.0:0.7535:0.0	.	334	Q9P255	ZN492_HUMAN	D	334	ENSP00000413660:E334D	ENSP00000413660:E334D	E	+	3	2	ZNF492	22639313	0.603000	0.26924	0.014000	0.15608	0.014000	0.08584	-0.039000	0.12124	0.269000	0.21961	0.274000	0.19336	GAG		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		10	27	1	0	5.50884e-06	1	5.84938e-06	10	27				
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013869	33013869	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:33013869T>C	ENST00000567619.1	-	0	499																											GCCAGGCTTCTGGATACACCT	0.552																																						ENST00000567619.1																			0																																																			28312							g.chr16:33013869T>C																													16.37:g.33013869T>C														0	499	-									RNA	SNP	ENST00000567619.1	37																																																																																						0.552	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			22	10	0	0	0	1	0	22	10				
C14orf39	317761	broad.mit.edu	37	14	60921825	60921825	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:60921825T>A	ENST00000321731.3	-	16	1556	c.1397A>T	c.(1396-1398)gAa>gTa	p.E466V		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	466					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGATTCCTTTTCTGTTTGAAC	0.294																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1396-1398)gAa>gTa		chromosome 14 open reading frame 39							58.0	64.0	62.0					14																	60921825		2201	4292	6493	SO:0001583	missense	317761							g.chr14:60921825T>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1397A>T	14.37:g.60921825T>A	ENSP00000324920:p.Glu466Val						p.E466V	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	16	1556	-			466					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1397A>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651817	0.47362	.	.	ENSG00000179008	ENST00000321731	T	0.23950	1.88	5.84	5.84	0.93424	.	0.512290	0.19553	N	0.111532	T	0.13286	0.0322	N	0.08118	0	0.21627	N	0.999614	B	0.16802	0.019	B	0.20767	0.031	T	0.24693	-1.0153	9	.	.	.	-3.4058	10.2931	0.43608	0.0:0.0:0.1653:0.8347	.	466	Q8N1H7	S6OS1_HUMAN	V	466	ENSP00000324920:E466V	.	E	-	2	0	C14orf39	59991578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.033000	0.49743	2.234000	0.73211	0.459000	0.35465	GAA		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		118	47	0	0	0	1	0	118	47				
DPPA4	55211	broad.mit.edu	37	3	109047884	109047884	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109047884C>A	ENST00000335658.6	-	6	785	c.731G>T	c.(730-732)gGt>gTt	p.G244V	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	244					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGAACCCAACCATCTGTGTC	0.522																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(730-732)gGt>gTt		developmental pluripotency associated 4							65.0	58.0	61.0					3																	109047884		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109047884C>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.731G>T	3.37:g.109047884C>A	ENSP00000335306:p.Gly244Val						p.G244V	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			6	785	-			244					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.731G>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814417	0.70912	.	.	ENSG00000121570	ENST00000335658	T	0.33654	1.4	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000012	T	0.58609	0.2134	M	0.74881	2.28	0.58432	D	0.999997	D	0.69078	0.997	D	0.70016	0.967	T	0.61983	-0.6950	10	0.87932	D	0	-30.6319	13.7846	0.63102	0.0:1.0:0.0:0.0	.	244	Q7L190	DPPA4_HUMAN	V	244	ENSP00000335306:G244V	ENSP00000335306:G244V	G	-	2	0	DPPA4	110530574	0.515000	0.26210	0.675000	0.29917	0.956000	0.61745	1.107000	0.31110	2.708000	0.92522	0.467000	0.42956	GGT		0.522	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		14	27	1	0	0.000308642	1	0.000318457	14	27				
DST	667	broad.mit.edu	37	6	56416991	56416991	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:56416991G>C	ENST00000361203.3	-	57	15973	c.15966C>G	c.(15964-15966)aaC>aaG	p.N5322K	DST_ENST00000446842.2_Missense_Mutation_p.N4998K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.N3236K|DST_ENST00000370754.5_Missense_Mutation_p.N5502K|DST_ENST00000244364.6_Missense_Mutation_p.N2910K|DST_ENST00000370788.2_Missense_Mutation_p.N3236K|DST_ENST00000370769.4_Missense_Mutation_p.N5324K			Q03001	DYST_HUMAN	dystonin	5322					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGAACATGTTAAGCTGCT	0.358																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16504-16506)aaC>aaG		dystonin							93.0	90.0	91.0					6																	56416991		1828	4083	5911	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56416991G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15966C>G	6.37:g.56416991G>C	ENSP00000354508:p.Asn5322Lys					DST_ENST00000361203.3_Missense_Mutation_p.N5322K|DST_ENST00000244364.6_Missense_Mutation_p.N2910K|DST_ENST00000446842.2_Missense_Mutation_p.N4998K|DST_ENST00000421834.2_Missense_Mutation_p.N3236K|DST_ENST00000370788.2_Missense_Mutation_p.N3236K|DST_ENST00000370769.4_Missense_Mutation_p.N5324K|DST_ENST00000312431.6_3'UTR	p.N5502K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16505	-	Lung NSC(77;0.103)		5322					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16506C>G		.	.	.	.	.	.	.	.	.	.	G	0.059	-1.229516	0.01518	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.97	-3.2	0.05156	.	1.145970	0.06610	N	0.755424	T	0.08714	0.0216	L	0.28274	0.84	0.23872	N	0.996603	B;B;B;B;B	0.29212	0.237;0.057;0.077;0.042;0.003	B;B;B;B;B	0.34038	0.174;0.069;0.071;0.061;0.003	T	0.10337	-1.0634	9	0.06494	T	0.89	.	7.855	0.29476	0.3923:0.2151:0.3926:0.0	.	3236;5324;5502;5322;2910	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	2910;5502;5324;3236;4998;3236;5322	ENSP00000244364:N2910K;ENSP00000359790:N5502K;ENSP00000359805:N5324K;ENSP00000400883:N3236K;ENSP00000393645:N4998K;ENSP00000359824:N3236K;ENSP00000354508:N5322K	ENSP00000244364:N2910K	N	-	3	2	DST	56524950	0.842000	0.29525	0.000000	0.03702	0.176000	0.22953	0.375000	0.20518	-1.334000	0.02244	-2.443000	0.00211	AAC		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	73	0	0	0	1	0	7	73				
DCBLD1	285761	broad.mit.edu	37	6	117846586	117846586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117846586G>T	ENST00000338728.5	+	5	694	c.574G>T	c.(574-576)Gga>Tga	p.G192*	DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.G192*|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.G192*|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	192	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TATGGTAGATGGATATAGAGA	0.323																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(574-576)Gga>Tga		discoidin, CUB and LCCL domain containing 1							119.0	126.0	123.0					6																	117846586		2203	4300	6503	SO:0001587	stop_gained	285761				cell adhesion	integral to membrane		g.chr6:117846586G>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.574G>T	6.37:g.117846586G>T	ENSP00000342422:p.Gly192*					GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.G192*|DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.G192*	p.G192*			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	5	694	+		all_cancers(87;0.171)	192			LCCL.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Nonsense_Mutation	SNP	ENST00000338728.5	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.707381	0.97780	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.2183	17.877	0.88828	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000296955:G192X	G	+	1	0	DCBLD1	117953279	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.402000	0.79972	2.522000	0.85027	0.460000	0.39030	GGA		0.323	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		25	62	1	0	3.57733e-08	1	3.91962e-08	25	62				
GPR108	56927	broad.mit.edu	37	19	6734257	6734257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:6734257C>A	ENST00000264080.7	-	5	462	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	146						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGGGTGCTTCCGGGAGGAGC	0.657											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(436-438)Gaa>Taa		G protein-coupled receptor 108							44.0	51.0	49.0					19																	6734257		1988	4150	6138	SO:0001587	stop_gained	56927					integral to membrane		g.chr19:6734257C>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.436G>T	19.37:g.6734257C>A	ENSP00000264080:p.Glu146*		OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	GPR108_ENST00000430424.4_5'UTR	p.E146*	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			5	462	-			146					B9EJD7	Nonsense_Mutation	SNP	ENST00000264080.7	37	c.436G>T	CCDS42479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.55|14.55	2.568744|2.568744	0.45798|0.45798	.|.	.|.	ENSG00000125734|ENSG00000125734	ENST00000264080|ENST00000549846	.|.	.|.	.|.	3.93|3.93	2.89|2.89	0.33648|0.33648	.|.	1.162240|.	0.06514|.	U|.	0.738610|.	.|T	.|0.33118	.|0.0852	.|.	.|.	.|.	0.20074|0.20074	N|N	0.999935|0.999935	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|4	0.22109|.	T|.	0.4|.	.|.	7.1275|7.1275	0.25479|0.25479	0.0:0.8746:0.0:0.1254|0.0:0.8746:0.0:0.1254	.|.	.|.	.|.	.|.	X|V	146|128	.|.	ENSP00000264080:E146X|.	E|G	-|-	1|2	0|0	GPR108|GPR108	6685257|6685257	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.030000|0.030000	0.12068|0.12068	1.285000|1.285000	0.33261|0.33261	0.867000|0.867000	0.35654|0.35654	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.657	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			18	33	1	0	7.21436e-19	1	9.08015e-19	18	33				
COL7A1	1294	broad.mit.edu	37	3	48605585	48605585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605585C>A	ENST00000328333.8	-	105	7920	c.7813G>T	c.(7813-7815)Gga>Tga	p.G2605*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2573*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGCACTCCATCCTTTCCT	0.537																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7813-7815)Gga>Tga		collagen, type VII, alpha 1							75.0	71.0	72.0					3																	48605585		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605585C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7813G>T	3.37:g.48605585C>A	ENSP00000332371:p.Gly2605*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2573*	p.G2605*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	105	7920	-			2605			Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.7813G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	46	12.662233	0.99686	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.29	5.29	0.74685	.	0.000000	0.44285	D	0.000469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1265	0.86715	0.0:1.0:0.0:0.0	.	.	.	.	X	2605;2573	.	ENSP00000332371:G2605X	G	-	1	0	COL7A1	48580589	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.432000	0.73400	2.480000	0.83734	0.563000	0.77884	GGA		0.537	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		12	28	1	0	4.3838e-07	1	4.76749e-07	12	28				
MUC5B	727897	broad.mit.edu	37	11	1253769	1253769	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1253769C>T	ENST00000529681.1	+	16	1991	c.1933C>T	c.(1933-1935)Cac>Tac	p.H645Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.H648Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	645					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)				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)		CAAGCCCTTCCACTCGGTGAG	0.682																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1942-1944)Cac>Tac		mucin 5B, oligomeric mucus/gel-forming							35.0	39.0	37.0					11																	1253769		2065	4179	6244	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1253769C>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.1933C>T	11.37:g.1253769C>T	ENSP00000436812:p.His645Tyr					MUC5B_ENST00000529681.1_Missense_Mutation_p.H645Y	p.H648Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	16	2000	+		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)	645					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.1942C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.134	1.012087	0.19277	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.74421	-0.84;-0.84	4.32	-4.85	0.03142	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.38639	0.1048	N	0.00289	-1.7	0.22389	N	0.999149	B;B;B	0.20671	0.0;0.017;0.047	B;B;B	0.21151	0.002;0.033;0.033	T	0.41610	-0.9499	9	0.87932	D	0	.	13.626	0.62165	0.0:0.4124:0.0:0.5876	.	645;1304;648	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Y	645;648;646;681	ENSP00000436812:H645Y;ENSP00000415793:H648Y	ENSP00000343037:H646Y	H	+	1	0	MUC5B	1210345	0.005000	0.15991	0.377000	0.26055	0.525000	0.34531	-0.682000	0.05185	-0.923000	0.03785	0.462000	0.41574	CAC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	2	0	0	0	1	0	4	2				
MLLT4	4301	broad.mit.edu	37	6	168265306	168265306	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:168265306C>T	ENST00000447894.2	+	2	181	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	MLLT4_ENST00000351017.4_Missense_Mutation_p.R61W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R61W|MLLT4_ENST00000344191.4_Missense_Mutation_p.R61W|MLLT4_ENST00000392108.3_Missense_Mutation_p.R61W|MLLT4_ENST00000366806.2_Missense_Mutation_p.R61W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R61W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	61	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAATGTATTCGGGTCTCTAG	0.398			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(181-183)Cgg>Tgg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							204.0	225.0	218.0					6																	168265306		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265306C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.181C>T	6.37:g.168265306C>T	ENSP00000404595:p.Arg61Trp					MLLT4_ENST00000447894.2_Missense_Mutation_p.R61W|MLLT4_ENST00000344191.4_Missense_Mutation_p.R61W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392108.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R61W|MLLT4_ENST00000351017.4_Missense_Mutation_p.R61W	p.R61W			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	323	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	61			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.181C>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.183200	0.78677	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.55481	1.735	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	0.03184	-1.1063	10	0.87932	D	0	-10.2788	14.83	0.70139	0.1439:0.8561:0.0:0.0	.	61;61;61	P55196-5;P55196-6;P55196-2	.;.;.	W	61	ENSP00000383626:R61W;ENSP00000341118:R61W;ENSP00000252692:R61W;ENSP00000375956:R61W;ENSP00000355771:R61W;ENSP00000375960:R61W;ENSP00000383625:R61W;ENSP00000383623:R61W;ENSP00000404595:R61W	ENSP00000345834:R61W	R	+	1	2	MLLT4	168008155	0.793000	0.28825	0.998000	0.56505	0.994000	0.84299	1.472000	0.35376	2.735000	0.93741	0.563000	0.77884	CGG		0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		95	292	0	0	0	1	0	95	292				
COL7A1	1294	broad.mit.edu	37	3	48605584	48605584	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605584C>A	ENST00000328333.8	-	105	7921	c.7814G>T	c.(7813-7815)gGa>gTa	p.G2605V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2573V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGGCACTCCATCCTTTCC	0.532																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7813-7815)gGa>gTa		collagen, type VII, alpha 1							76.0	71.0	73.0					3																	48605584		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605584C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7814G>T	3.37:g.48605584C>A	ENSP00000332371:p.Gly2605Val					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2573V	p.G2605V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	105	7921	-			2605			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7814G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197999	0.22037	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-5.77	5.29	5.29	0.74685	.	0.000000	0.44285	D	0.000469	D	0.99857	0.9933	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96316	0.9232	10	0.87932	D	0	.	17.1265	0.86715	0.0:1.0:0.0:0.0	.	2605	Q02388	CO7A1_HUMAN	V	2605;2573	ENSP00000332371:G2605V;ENSP00000412569:G2573V	ENSP00000332371:G2605V	G	-	2	0	COL7A1	48580588	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	6.482000	0.73613	2.480000	0.83734	0.563000	0.77884	GGA		0.532	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		13	29	1	0	7.93312e-07	1	8.51644e-07	13	29				
RNF128	79589	broad.mit.edu	37	X	105937453	105937453	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105937453A>T	ENST00000324342.3	+	1	386	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	92					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AAGAACAATAACTACCAAGCT	0.403																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(220-222)aAc>aTc		ring finger protein 128, E3 ubiquitin protein ligase							149.0	123.0	132.0					X																	105937453		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937453A>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.221A>T	X.37:g.105937453A>T	ENSP00000316127:p.Asn74Ile						p.N74I	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	386	+			91					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.221A>T	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	A	7.419	0.636400	0.14386	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.31510	1.49;2.87	6.02	3.65	0.41850	.	.	.	.	.	T	0.22244	0.0536	L	0.33710	1.025	0.53005	D	0.999961	B	0.10296	0.003	B	0.13407	0.009	T	0.03695	-1.1012	9	0.46703	T	0.11	.	7.8554	0.29478	0.7559:0.0:0.2441:0.0	.	74	Q8TEB7-2	.	I	47;74	ENSP00000412610:N47I;ENSP00000316127:N74I	ENSP00000316127:N74I	N	+	2	0	RNF128	105824109	0.938000	0.31826	0.437000	0.26809	0.634000	0.38068	2.758000	0.47565	0.365000	0.24400	0.481000	0.45027	AAC		0.403	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		31	24	0	0	0	1	0	31	24				
GRTP1	79774	broad.mit.edu	37	13	113999189	113999189	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:113999189C>T	ENST00000375431.4	-	5	625	c.551G>A	c.(550-552)aGa>aAa	p.R184K	GRTP1_ENST00000326039.3_Missense_Mutation_p.R106K|GRTP1_ENST00000375430.4_Missense_Mutation_p.R184K	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	184	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGGTAGTATTCTTCCAACAAG	0.343																																						ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(550-552)aGa>aAa		growth hormone regulated TBC protein 1							89.0	96.0	93.0					13																	113999189		2203	4300	6503	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:113999189C>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.551G>A	13.37:g.113999189C>T	ENSP00000364580:p.Arg184Lys					GRTP1_ENST00000326039.3_Missense_Mutation_p.R106K|GRTP1_ENST00000375431.4_Missense_Mutation_p.R184K	p.R184K			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		5	597	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	184			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.551G>A	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593110	0.13875	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.10288	2.89;2.89;2.89	5.13	4.28	0.50868	Rab-GAP/TBC domain (4);	0.114897	0.64402	D	0.000020	T	0.08358	0.0208	L	0.39633	1.23	0.40103	D	0.97639	B;B;B	0.22983	0.044;0.012;0.078	B;B;B	0.24974	0.048;0.01;0.057	T	0.11421	-1.0588	10	0.08381	T	0.77	.	9.5605	0.39366	0.0:0.8345:0.0:0.1655	.	184;106;184	B9A6K2;Q5TC63-2;Q5TC63	.;.;GRTP1_HUMAN	K	184;106;184	ENSP00000364580:R184K;ENSP00000321850:R106K;ENSP00000364579:R184K	ENSP00000321850:R106K	R	-	2	0	GRTP1	113047190	0.989000	0.36119	0.286000	0.24833	0.124000	0.20399	3.085000	0.50151	2.389000	0.81357	0.591000	0.81541	AGA		0.343	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		12	156	0	0	0	1	0	12	156				
GSAP	54103	broad.mit.edu	37	7	76950654	76950654	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:76950654G>A	ENST00000257626.7	-	25	2068	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	664					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GCGTACAAGTGGAGAACCCAG	0.408																																						ENST00000257626.7																			0											c.(1990-1992)Cac>Tac		gamma-secretase activating protein							121.0	116.0	117.0					7																	76950654		1931	4146	6077	SO:0001583	missense	54103							g.chr7:76950654G>A		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1990C>T	7.37:g.76950654G>A	ENSP00000257626:p.His664Tyr					GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	p.H664Y	NM_017439.3	NP_059135.2					25	2068	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1990C>T	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	G	7.947	0.744054	0.15710	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.31510	1.49;1.49	5.46	4.58	0.56647	.	0.349268	0.34603	N	0.003840	T	0.24353	0.0590	L	0.57536	1.79	0.80722	D	1	P	0.47604	0.898	B	0.37550	0.253	T	0.05484	-1.0882	10	0.19590	T	0.45	.	8.7052	0.34349	0.1742:0.0:0.8258:0.0	.	664	A4D1B5	GSAP_HUMAN	Y	664;117	ENSP00000257626:H664Y;ENSP00000396230:H117Y	ENSP00000257626:H664Y	H	-	1	0	PION	76788590	0.985000	0.35326	0.998000	0.56505	0.324000	0.28378	2.983000	0.49345	1.432000	0.47375	0.591000	0.81541	CAC		0.408	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		21	40	0	0	0	1	0	21	40				
AJUBA	84962	broad.mit.edu	37	14	23447577	23447577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:23447577G>A	ENST00000262713.2	-	2	1459	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	AJUBA_ENST00000397388.3_5'Flank|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q362*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	362	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ACAAAGCACTGGGTGTGGTAG	0.532																																						ENST00000262713.2																			0											c.(1084-1086)Cag>Tag		ajuba LIM protein							208.0	178.0	188.0					14																	23447577		2203	4300	6503	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447577G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1084C>T	14.37:g.23447577G>A	ENSP00000262713:p.Gln362*					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q362*	p.Q362*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			2	1459	-			362			LIM zinc-binding 1.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.1084C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608992	0.96637	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.02	4.12	0.48240	.	0.098701	0.44902	D	0.000407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.3811	0.21536	0.0941:0.0:0.7252:0.1807	.	.	.	.	X	362	.	ENSP00000262713:Q362X	Q	-	1	0	JUB	22517417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.200000	0.42724	1.111000	0.41721	0.563000	0.77884	CAG		0.532	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			73	45	0	0	0	1	0	73	45				
HNRNPU	3192	broad.mit.edu	37	1	245021350	245021350	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:245021350C>T	ENST00000283179.9	-	7	1620	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	HNRNPU_ENST00000444376.2_Missense_Mutation_p.R467K|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	486					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTTTGGTCCTCTAACTCGATC	0.383																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1399-1401)aGa>aAa		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							70.0	70.0	70.0					1																	245021350		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245021350C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1457G>A	1.37:g.245021350C>T	ENSP00000283179:p.Arg486Lys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.R486K	p.R467K	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1634	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		486					O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1400G>A	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583841	0.96578	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.50813	0.74;0.73	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.80982	2.52	0.80722	D	1	P;D;D;P	0.89917	0.956;0.992;1.0;0.932	P;D;D;P	0.85130	0.899;0.942;0.997;0.867	T	0.72253	-0.4347	10	0.49607	T	0.09	-17.692	20.1736	0.98170	0.0:1.0:0.0:0.0	.	411;467;486;210	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	K	467;486;411	ENSP00000393151:R467K;ENSP00000283179:R486K	ENSP00000283179:R486K	R	-	2	0	HNRNPU	243087973	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.767000	0.95098	0.557000	0.71058	AGA		0.383	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		35	38	0	0	0	1	0	35	38				
DCAF4L2	138009	broad.mit.edu	37	8	88886175	88886175	+	Missense_Mutation	SNP	G	G	T	rs371247789		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:88886175G>T	ENST00000319675.3	-	1	121	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	9										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						GCTTCCTCGAGCAGTCGCGGT	0.512																																						ENST00000319675.3																			0				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						c.(25-27)Ctc>Atc		DDB1 and CUL4 associated factor 4-like 2							51.0	50.0	50.0					8																	88886175		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886175G>T	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.25C>A	8.37:g.88886175G>T	ENSP00000316496:p.Leu9Ile						p.L9I	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	121	-			9						Missense_Mutation	SNP	ENST00000319675.3	37	c.25C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373205	0.42105	.	.	ENSG00000176566	ENST00000319675	T	0.74002	-0.8	1.39	0.427	0.16489	.	0.072920	0.56097	D	0.000032	T	0.80491	0.4633	M	0.72894	2.215	0.24250	N	0.995326	D	0.76494	0.999	D	0.83275	0.996	T	0.66775	-0.5838	10	0.66056	D	0.02	.	5.3423	0.15990	0.2293:0.0:0.7707:0.0	.	9	Q8NA75	DC4L2_HUMAN	I	9	ENSP00000316496:L9I	ENSP00000316496:L9I	L	-	1	0	DCAF4L2	88955291	0.976000	0.34144	0.010000	0.14722	0.079000	0.17450	0.693000	0.25497	0.750000	0.32877	0.467000	0.42956	CTC		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		22	47	1	0	8.10497e-08	1	8.86387e-08	22	47				
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4228-4230)cGa>cAa		collagen, type IV, alpha 2							26.0	29.0	28.0					13																	111156284		1790	4054	5844	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156284G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4229G>A	13.37:g.111156284G>A	ENSP00000353654:p.Arg1410Gln					COL4A2-AS1_ENST00000417970.2_RNA	p.R1410Q	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		44	4535	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1410			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4229G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085247	0.07097	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90788	-2.73	5.2	3.46	0.39613	.	0.516058	0.18184	N	0.149049	T	0.74703	0.3751	N	0.05467	-0.045	0.18873	N	0.999989	P	0.34837	0.472	B	0.34824	0.19	T	0.64351	-0.6428	10	0.11794	T	0.64	.	3.0877	0.06283	0.1583:0.1393:0.5588:0.1436	.	1410	P08572	CO4A2_HUMAN	Q	1410	ENSP00000353654:R1410Q	ENSP00000257309:R1410Q	R	+	2	0	COL4A2	109954285	0.079000	0.21365	0.992000	0.48379	0.418000	0.31294	0.248000	0.18198	1.192000	0.43071	0.561000	0.74099	CGA		0.731	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		10	36	0	0	0	1	0	10	36				
FBLN2	2199	broad.mit.edu	37	3	13670697	13670697	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13670697G>T	ENST00000295760.7	+	12	2675	c.2606G>T	c.(2605-2607)tGc>tTc	p.C869F	FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F|FBLN2_ENST00000404922.3_Missense_Mutation_p.C916F|FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	869	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.C916F(1)|p.C335F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTGCACCGCTGCGGTGAGGGC	0.652																																						ENST00000404922.3																			2	Substitution - Missense(2)	p.C916F(1)|p.C335F(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2746-2748)tGc>tTc		fibulin 2							44.0	50.0	48.0					3																	13670697		2120	4233	6353	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670697G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2606G>T	3.37:g.13670697G>T	ENSP00000295760:p.Cys869Phe					FBLN2_ENST00000295760.7_Missense_Mutation_p.C869F|FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F	p.C916F	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		13	2866	+			912			EGF-like 7; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2747G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378592	0.82682	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.14;-5.14;-5.91;-5.14	4.91	4.91	0.64330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97112	0.9805	10	0.87932	D	0	.	18.095	0.89487	0.0:0.0:1.0:0.0	.	869;916;895	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	F	895;916;869;916	ENSP00000445705:C895F;ENSP00000384169:C916F;ENSP00000295760:C869F;ENSP00000420042:C916F	ENSP00000295760:C869F	C	+	2	0	FBLN2	13645698	1.000000	0.71417	0.738000	0.30950	0.941000	0.58515	9.593000	0.98250	2.258000	0.74832	0.655000	0.94253	TGC		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		7	11	1	0	1.12685e-05	1	1.19218e-05	7	11				
TTC21A	199223	broad.mit.edu	37	3	39159567	39159567	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:39159567G>C	ENST00000431162.2	+	7	858	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	TTC21A_ENST00000301819.6_Missense_Mutation_p.E242Q|TTC21A_ENST00000440121.1_Missense_Mutation_p.E201Q			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	242										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGAATCCTAGAAAAAGATGA	0.418																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(724-726)Gaa>Caa		tetratricopeptide repeat domain 21A							136.0	141.0	139.0					3																	39159567		2096	4223	6319	SO:0001583	missense	199223						binding	g.chr3:39159567G>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.724G>C	3.37:g.39159567G>C	ENSP00000398211:p.Glu242Gln					TTC21A_ENST00000440121.1_Missense_Mutation_p.E201Q|TTC21A_ENST00000431162.2_Missense_Mutation_p.E242Q	p.E242Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	901	+			242					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.724G>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482620	0.44147	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.34859	1.34;1.34;2.25	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.35595	0.0937	L	0.31926	0.97	0.32873	D	0.509494	B;D;D;D;D	0.59767	0.32;0.986;0.986;0.976;0.986	B;P;P;P;P	0.53360	0.083;0.724;0.724;0.534;0.724	T	0.25257	-1.0137	10	0.13108	T	0.6	-16.0496	11.7919	0.52073	0.0:0.0:0.8246:0.1754	.	201;242;242;242;242	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	Q	242;242;242;201	ENSP00000301819:E242Q;ENSP00000398211:E242Q;ENSP00000410882:E201Q	ENSP00000301819:E242Q	E	+	1	0	TTC21A	39134571	0.909000	0.30893	0.993000	0.49108	0.984000	0.73092	1.358000	0.34102	2.551000	0.86045	0.563000	0.77884	GAA		0.418	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		45	45	0	0	0	1	0	45	45				
POM121	9883	broad.mit.edu	37	7	72413258	72413258	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:72413258C>T	ENST00000434423.2	+	11	2726	c.2726C>T	c.(2725-2727)aCg>aTg	p.T909M	POM121_ENST00000257622.4_Missense_Mutation_p.T644M|POM121_ENST00000395270.1_Missense_Mutation_p.T644M|POM121_ENST00000446813.1_Missense_Mutation_p.T644M|POM121_ENST00000358357.3_Missense_Mutation_p.T644M			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCGTGCCAACGGCCACCAGC	0.632																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1930-1932)aCg>aTg		POM121 transmembrane nucleoporin																																				SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413258C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2726C>T	7.37:g.72413258C>T	ENSP00000405562:p.Thr909Met					POM121_ENST00000358357.3_Missense_Mutation_p.T644M|POM121_ENST00000257622.4_Missense_Mutation_p.T644M|POM121_ENST00000446813.1_Missense_Mutation_p.T644M|POM121_ENST00000434423.2_Missense_Mutation_p.T909M	p.T644M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2972	+		Lung NSC(55;0.163)	909			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1931C>T		.	.	.	.	.	.	.	.	.	.	C	10.72	1.428676	0.25726	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.06768	3.26;3.28;3.26;3.28;3.49	2.33	2.33	0.28932	.	0.163924	0.28778	N	0.014166	T	0.21227	0.0511	M	0.66939	2.045	0.27867	N	0.940182	D;D	0.76494	0.999;0.998	D;P	0.67382	0.951;0.847	T	0.01030	-1.1475	10	0.51188	T	0.08	.	9.7027	0.40196	0.0:1.0:0.0:0.0	.	644;909	A8MXF9;Q96HA1	.;P121A_HUMAN	M	644;644;644;644;909	ENSP00000393020:T644M;ENSP00000257622:T644M;ENSP00000378687:T644M;ENSP00000351124:T644M;ENSP00000405562:T909M	ENSP00000257622:T644M	T	+	2	0	POM121	72051194	0.032000	0.19561	0.205000	0.23548	0.301000	0.27625	3.992000	0.56980	1.309000	0.44985	0.173000	0.16961	ACG		0.632	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			49	178	0	0	0	1	0	49	178				
OR4S2	219431	broad.mit.edu	37	11	55418380	55418380	+	Splice_Site	SNP	A	A	T	rs150128867		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55418380A>T	ENST00000312422.2	+	1	1	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GACCCATTCCATGGAAAAAAT	0.328																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e1-1		olfactory receptor, family 4, subfamily S, member 2							44.0	40.0	41.0					11																	55418380		2174	3996	6170	SO:0001630	splice_region_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418380A>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.1-1A>T	11.37:g.55418380A>T							p.M1_splice	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	1	+		all_epithelial(135;0.0748)	1					Q6IF72	Splice_Site	SNP	ENST00000312422.2	37	c.0_splice	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744945	0.30865	.	.	ENSG00000174982	ENST00000312422	T	0.06849	3.25	5.14	5.14	0.70334	.	0.100708	0.44483	D	0.000446	T	0.07052	0.0179	.	.	.	.	.	.	B	0.26363	0.147	B	0.25614	0.062	T	0.29336	-1.0015	7	.	.	.	.	13.7649	0.62988	1.0:0.0:0.0:0.0	.	1	Q8NH73	OR4S2_HUMAN	L	1	ENSP00000310337:M1L	.	M	+	1	0	OR4S2	55174956	0.160000	0.22878	0.888000	0.34837	0.218000	0.24690	2.934000	0.48956	1.934000	0.56057	0.368000	0.22195	ATG		0.328	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	Missense_Mutation	33	83	0	0	0	1	0	33	83				
STK31	56164	broad.mit.edu	37	7	23808708	23808708	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23808708A>T	ENST00000355870.3	+	12	1630	c.1511A>T	c.(1510-1512)gAt>gTt	p.D504V	STK31_ENST00000428484.1_Missense_Mutation_p.D481V|STK31_ENST00000354639.3_Missense_Mutation_p.D481V|STK31_ENST00000433467.2_Missense_Mutation_p.D504V|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	504						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGAAGTGTGATAAAAGAGAG	0.393																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1441-1443)gAt>gTt		serine/threonine kinase 31							92.0	97.0	95.0					7																	23808708		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23808708A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1511A>T	7.37:g.23808708A>T	ENSP00000348132:p.Asp504Val					STK31_ENST00000428484.1_Missense_Mutation_p.D481V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D504V|STK31_ENST00000355870.3_Missense_Mutation_p.D504V	p.D481V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			12	1906	+			504					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1442A>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626470	0.28978	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.69806	-0.43;1.3;-0.43;-0.43	5.3	-0.76	0.11041	.	1.462710	0.03774	N	0.260291	T	0.57651	0.2068	L	0.40543	1.245	0.22185	N	0.999307	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.38265	-0.9669	10	0.35671	T	0.21	0.0323	8.7482	0.34600	0.1504:0.3693:0.4803:0.0	.	504;504	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	504;504;481;481	ENSP00000348132:D504V;ENSP00000411852:D504V;ENSP00000346660:D481V;ENSP00000406146:D481V	ENSP00000346660:D481V	D	+	2	0	STK31	23775233	0.820000	0.29190	0.152000	0.22495	0.810000	0.45777	-0.124000	0.10595	-0.559000	0.06110	0.533000	0.62120	GAT		0.393	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		49	115	0	0	0	1	0	49	115				
RMDN2	151393	broad.mit.edu	37	2	38231329	38231329	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:38231329G>A	ENST00000406384.1	+	10	1343	c.1149G>A	c.(1147-1149)ttG>ttA	p.L383L	RMDN2_ENST00000354545.2_Silent_p.L383L|RMDN2_ENST00000407257.1_Silent_p.L561L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000469469.1_3'UTR|RMDN2_ENST00000234195.3_Silent_p.L561L|RMDN2_ENST00000417700.2_Silent_p.L238L	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	383						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTGTAATTTGGCTTTATTGC	0.353																																						ENST00000407257.1																			0											c.(1681-1683)ttG>ttA		regulator of microtubule dynamics 2							129.0	119.0	123.0					2																	38231329		2202	4300	6502	SO:0001819	synonymous_variant	151393							g.chr2:38231329G>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.1149G>A	2.37:g.38231329G>A						RMDN2_ENST00000417700.2_Silent_p.L238L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Silent_p.L383L|RMDN2_ENST00000406384.1_Silent_p.L383L|RMDN2_ENST00000234195.3_Silent_p.L561L|RMDN2_ENST00000469469.1_3'UTR	p.561_561insL							10	1830	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1683G>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833727	0.16820	.	.	ENSG00000115841	ENST00000425641	.	.	.	5.09	2.97	0.34412	.	.	.	.	.	T	0.52805	0.1757	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48127	-0.9062	4	.	.	.	-1.1118	5.3164	0.15858	0.1032:0.0:0.6503:0.2465	.	.	.	.	S	118	.	.	G	+	1	0	FAM82A1	38084833	0.979000	0.34478	0.791000	0.31998	0.941000	0.58515	0.890000	0.28295	1.266000	0.44231	0.455000	0.32223	GGC		0.353	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		29	74	0	0	0	1	0	29	74				
PRPF18	8559	broad.mit.edu	37	10	13642274	13642274	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13642274T>C	ENST00000378572.3	+	3	335	c.175T>C	c.(175-177)Tta>Cta	p.L59L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	59					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CCAGAAACCATTAACTTCATC	0.338																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(175-177)Tta>Cta		pre-mRNA processing factor 18							104.0	102.0	103.0					10																	13642274		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13642274T>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.175T>C	10.37:g.13642274T>C							p.L59L	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			3	335	+			59					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.175T>C	CCDS7100.1																																																																																				0.338	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			34	70	0	0	0	1	0	34	70				
GABRG1	2565	broad.mit.edu	37	4	46060249	46060249	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:46060249C>A	ENST00000295452.4	-	7	1068	c.901G>T	c.(901-903)Gca>Tca	p.A301S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	301					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATGTTCTTGCAGGCACTGCA	0.333																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(901-903)Gca>Tca		gamma-aminobutyric acid (GABA) A receptor, gamma 1							92.0	89.0	90.0					4																	46060249		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060249C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.901G>T	4.37:g.46060249C>A	ENSP00000295452:p.Ala301Ser						p.A301S	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	1068	-			301					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.901G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918354	0.73098	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.86030	-2.06	5.53	5.53	0.82687	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.107611	0.64402	D	0.000006	D	0.93051	0.7788	M	0.86864	2.845	0.58432	D	0.999999	D	0.60160	0.987	D	0.64237	0.923	D	0.93725	0.7036	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	301	Q8N1C3	GBRG1_HUMAN	S	301	ENSP00000295452:A301S	ENSP00000295452:A301S	A	-	1	0	GABRG1	45755006	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	7.705000	0.84606	2.782000	0.95742	0.549000	0.68633	GCA		0.333	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		23	30	1	0	8.58068e-18	1	1.07304e-17	23	30				
POTED	317754	broad.mit.edu	37	21	15011857	15011857	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:15011857G>T	ENST00000299443.5	+	10	1483	c.1431G>T	c.(1429-1431)cgG>cgT	p.R477R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	477						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ATGATACCCGGAAACAACTTT	0.363																																						ENST00000299443.5																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1429-1431)cgG>cgT		POTE ankyrin domain family, member D							16.0	21.0	20.0					21																	15011857		892	3173	4065	SO:0001819	synonymous_variant	317754					plasma membrane		g.chr21:15011857G>T	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1431G>T	21.37:g.15011857G>T							p.R477R	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			10	1483	+			477					C9JCF7	Silent	SNP	ENST00000299443.5	37	c.1431G>T	CCDS13562.1																																																																																				0.363	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		5	88	1	0	0.014758	1	0.014937	5	88				
SLC15A1	6564	broad.mit.edu	37	13	99337073	99337073	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:99337073T>A	ENST00000376503.5	-	23	2087	c.2032A>T	c.(2032-2034)Atc>Ttc	p.I678F		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	678					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGAGCTTCGATCTCCGCTGGG	0.438																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2032-2034)Atc>Ttc		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						121.0	102.0	108.0					13																	99337073		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337073T>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.2032A>T	13.37:g.99337073T>A	ENSP00000365686:p.Ile678Phe						p.I678F	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			23	2087	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		678					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.2032A>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	8.811	0.935334	0.18206	.	.	ENSG00000088386	ENST00000376503	T	0.42131	0.98	5.37	-3.43	0.04810	Major facilitator superfamily domain, general substrate transporter (1);	0.309163	0.33854	N	0.004484	T	0.29288	0.0729	N	0.08118	0	0.80722	D	1	P	0.51653	0.947	P	0.61070	0.883	T	0.27739	-1.0065	10	0.21540	T	0.41	3.8941	7.1282	0.25484	0.117:0.4249:0.0:0.4581	.	678	P46059	S15A1_HUMAN	F	678	ENSP00000365686:I678F	ENSP00000365686:I678F	I	-	1	0	SLC15A1	98135074	0.871000	0.30034	0.003000	0.11579	0.001000	0.01503	0.077000	0.14738	-0.868000	0.04058	-1.157000	0.01802	ATC		0.438	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		32	67	0	0	0	1	0	32	67				
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:21971036C>A	ENST00000304494.5	-	2	592	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(364-366)cGa>cTa		cyclin-dependent kinase inhibitor 2A							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971036C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>T	9.37:g.21971036C>A	ENSP00000307101:p.Asp108Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L	p.R122L			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	657	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	138		G -> R (in CMM2).|G -> S (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.365G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308521|4.308521	0.81247|0.81247	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.94232|0.79845	-3.38;-3.38|-1.31;-1.25	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84678|0.84678	0.5525|0.5525	L|L	0.29908|0.29908	0.895|0.895	0.47308|0.47308	D|D	0.999383|0.999383	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.67548	1.0|0.952	D|D	0.85416|0.85416	0.1140|0.1140	9|10	0.87932|0.62326	D|D	0|0.03	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	108|163;122	ENSP00000307101:D108Y;ENSP00000394932:D108Y|ENSP00000355153:R163L;ENSP00000432664:R122L	ENSP00000307101:D108Y|ENSP00000355153:R163L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	10	1	0	1.08611e-07	1	1.18558e-07	11	10				
ZNF235	9310	broad.mit.edu	37	19	44792214	44792214	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:44792214T>A	ENST00000291182.4	-	5	1476	c.1374A>T	c.(1372-1374)ccA>ccT	p.P458P	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	458					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACATTTGTATGGTTTTTCTT	0.383																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1372-1374)ccA>ccT		zinc finger protein 235							99.0	98.0	98.0					19																	44792214		2203	4300	6503	SO:0001819	synonymous_variant	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792214T>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1374A>T	19.37:g.44792214T>A						ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.P458P	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1476	-		Prostate(69;0.0352)|all_neural(266;0.116)	458					B4DTQ7|O14898|O14899|Q17RR8	Silent	SNP	ENST00000291182.4	37	c.1374A>T	CCDS33048.1																																																																																				0.383	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			42	120	0	0	0	1	0	42	120				
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138312990C>T	ENST00000419765.3	-	10	1015	c.982G>A	c.(982-984)Ggg>Agg	p.G328R	SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R|SVOPL_ENST00000421622.1_Missense_Mutation_p.G208R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000463557.1_5'Flank	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	328						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGGCTCTCCCCTGAGTCCCCC	0.567																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(622-624)Ggg>Agg		SVOP-like							113.0	103.0	106.0					7																	138312990		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312990C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.982G>A	7.37:g.138312990C>T	ENSP00000405482:p.Gly328Arg					SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G328R	p.G208R			Q8N434	SVOPL_HUMAN			7	830	-			328						Missense_Mutation	SNP	ENST00000419765.3	37	c.622G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	2.820	-0.244929	0.05906	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.74002	-0.04;0.05;-0.04;-0.8	4.47	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.815701	0.11721	N	0.535853	T	0.53094	0.1775	N	0.08118	0	0.36247	D	0.853625	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49380	-0.8946	10	0.16896	T	0.51	-2.8069	10.7649	0.46288	0.0:0.9117:0.0:0.0883	.	328;176	Q8N434;Q8N434-2	SVOPL_HUMAN;.	R	176;208;176;328	ENSP00000288513:G176R;ENSP00000412830:G208R;ENSP00000417018:G176R;ENSP00000405482:G328R	ENSP00000288513:G176R	G	-	1	0	SVOPL	137963530	0.946000	0.32159	0.058000	0.19502	0.221000	0.24807	1.991000	0.40727	1.096000	0.41439	0.467000	0.42956	GGG		0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		16	46	0	0	0	1	0	16	46				
IQCA1	79781	broad.mit.edu	37	2	237396694	237396694	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:237396694C>A	ENST00000409907.3	-	4	871	c.597G>T	c.(595-597)atG>atT	p.M199I	IQCA1_ENST00000431676.2_Missense_Mutation_p.M199I|IQCA1_ENST00000309507.5_Missense_Mutation_p.M195I	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	199				M -> I (in Ref. 1; BAB70798). {ECO:0000305}.			ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTGCCAAGCATCTTGGATT	0.478																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(595-597)atG>atT		IQ motif containing with AAA domain 1							70.0	68.0	69.0					2																	237396694		1925	4134	6059	SO:0001583	missense	79781						ATP binding	g.chr2:237396694C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.597G>T	2.37:g.237396694C>A	ENSP00000387347:p.Met199Ile					IQCA1_ENST00000309507.5_Missense_Mutation_p.M195I|IQCA1_ENST00000431676.2_Missense_Mutation_p.M199I	p.M199I			Q86XH1	IQCA1_HUMAN			4	871	-			199	M -> I (in Ref. 3; BAB70798).				B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.597G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.282488|1.282488	0.23392|0.23392	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.93307	.|-3.1;-3.1;-3.2	5.45|5.45	-10.9|-10.9	0.00192|0.00192	.|.	.|1.680260	.|0.03795	.|N	.|0.263494	T|T	0.77864|0.77864	0.4194|0.4194	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.67169|0.67169	-0.5738|-0.5738	5|10	.|0.37606	.|T	.|0.19	.|.	3.0341|3.0341	0.06116|0.06116	0.1117:0.378:0.3079:0.2025|0.1117:0.378:0.3079:0.2025	.|.	.|199;206;199	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|I	218|199;206;195;199;195	.|ENSP00000387347:M199I;ENSP00000311951:M195I;ENSP00000407213:M199I	.|ENSP00000254653:M199I	A|M	-|-	1|3	0|0	IQCA1|IQCA1	237061433|237061433	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.207000|-2.207000	0.01230|0.01230	-1.610000|-1.610000	0.01583|0.01583	-0.290000|-0.290000	0.09829|0.09829	GCT|ATG		0.478	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		3	17	1	0	6.4e-05	1	6.69821e-05	3	17				
PTPRS	5802	broad.mit.edu	37	19	5274329	5274329	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:5274329T>C	ENST00000587303.1	-	2	217	c.118A>G	c.(118-120)Aag>Gag	p.K40E	PTPRS_ENST00000588012.1_Missense_Mutation_p.K40E|PTPRS_ENST00000357368.4_Missense_Mutation_p.K40E|PTPRS_ENST00000348075.2_Missense_Mutation_p.K40E|PTPRS_ENST00000353284.2_Missense_Mutation_p.K40E|PTPRS_ENST00000592099.1_Missense_Mutation_p.K40E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000590509.1_Missense_Mutation_p.K40E|PTPRS_ENST00000372412.4_Missense_Mutation_p.K40E|PTPRS_ENST00000262963.6_Missense_Mutation_p.K40E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	40	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ATCTGGTCCTTGGGTTCTTTG	0.597																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(118-120)Aag>Gag		protein tyrosine phosphatase, receptor type, S							36.0	40.0	38.0					19																	5274329		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5274329T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.118A>G	19.37:g.5274329T>C	ENSP00000467537:p.Lys40Glu					PTPRS_ENST00000587303.1_Missense_Mutation_p.K40E|PTPRS_ENST00000357368.4_Missense_Mutation_p.K40E|PTPRS_ENST00000353284.2_Missense_Mutation_p.K40E|PTPRS_ENST00000348075.2_Missense_Mutation_p.K40E|PTPRS_ENST00000592099.1_Missense_Mutation_p.K40E|PTPRS_ENST00000262963.6_Missense_Mutation_p.K40E|PTPRS_ENST00000590509.1_Missense_Mutation_p.K40E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K40E	p.K40E			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	3	351	-			40			Ig-like C2-type 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.118A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	3.052	-0.195249	0.06259	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	3.7	2.57	0.30868	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.659026	0.12389	U	0.473184	T	0.42404	0.1201	N	0.21545	0.675	0.21020	N	0.999807	B;B;B;B;B;B;B	0.12013	0.002;0.001;0.005;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.14023	0.004;0.01;0.004;0.0;0.001;0.001;0.0	T	0.37337	-0.9710	10	0.02654	T	1	.	4.4406	0.11572	0.0:0.1512:0.1967:0.6521	.	40;40;40;40;40;40;66	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	E	66;40;40;40;40;40;40;40;40;40	ENSP00000361489:K40E;ENSP00000349932:K40E;ENSP00000262963:K40E;ENSP00000269907:K40E;ENSP00000327313:K40E	ENSP00000262963:K40E	K	-	1	0	PTPRS	5225329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.247000	0.43151	1.459000	0.47892	0.374000	0.22700	AAG		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			12	30	0	0	0	1	0	12	30				
PRDM13	59336	broad.mit.edu	37	6	100056662	100056662	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:100056662C>T	ENST00000369215.4	+	2	495	c.190C>T	c.(190-192)Cct>Tct	p.P64S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	64	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGGGGCTCCCCTCTGGAGTG	0.617																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(220-222)Cct>Tct		PR domain containing 13							32.0	38.0	36.0					6																	100056662		1938	4129	6067	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100056662C>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.190C>T	6.37:g.100056662C>T	ENSP00000358217:p.Pro64Ser					PRDM13_ENST00000369215.4_Missense_Mutation_p.P64S	p.P74S	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	2	481	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	64			SET.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.220C>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212383	0.58452	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05199	3.5;3.48	5.1	5.1	0.69264	SET domain (2);	0.000000	0.33813	U	0.004521	T	0.01156	0.0038	N	0.01761	-0.735	0.37619	D	0.921238	P	0.40731	0.728	B	0.35114	0.196	T	0.57021	-0.7882	10	0.45353	T	0.12	-9.141	13.1248	0.59349	0.0:0.7062:0.2938:0.0	.	64	Q9H4Q3	PRD13_HUMAN	S	64;74	ENSP00000358217:P64S;ENSP00000358216:P74S	ENSP00000358216:P74S	P	+	1	0	PRDM13	100163383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.522000	0.67092	2.393000	0.81446	0.558000	0.71614	CCT		0.617	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			14	24	0	0	0	1	0	14	24				
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					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.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47.0	50.0	49.0					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	110	0	0	0	1	0	5	110				
SYNE2	23224	broad.mit.edu	37	14	64483263	64483263	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:64483263C>G	ENST00000344113.4	+	33	5013	c.4801C>G	c.(4801-4803)Cta>Gta	p.L1601V	SYNE2_ENST00000554584.1_Missense_Mutation_p.L1601V|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1601V|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1601					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAAAAATCTACAATTTTA	0.279																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4801-4803)Cta>Gta		spectrin repeat containing, nuclear envelope 2							25.0	24.0	24.0					14																	64483263		1778	4029	5807	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64483263C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4801C>G	14.37:g.64483263C>G	ENSP00000341781:p.Leu1601Val					SYNE2_ENST00000344113.4_Missense_Mutation_p.L1601V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1601V	p.L1601V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	33	5031	+			1601					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4801C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438122	0.43326	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.53640	0.61;0.61;0.61	4.94	4.03	0.46877	.	0.000000	0.44097	D	0.000498	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.67130	-0.5748	10	0.72032	D	0.01	.	14.1503	0.65378	0.0:0.9233:0.0:0.0767	.	1601;1601	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	1601	ENSP00000350719:L1601V;ENSP00000341781:L1601V;ENSP00000452570:L1601V	ENSP00000261678:L1601V	L	+	1	2	SYNE2	63553016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.091000	0.41691	2.443000	0.82685	0.555000	0.69702	CTA		0.279	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	91	0	0	0	1	0	11	91				
SYNJ1	8867	broad.mit.edu	37	21	34060668	34060668	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:34060668G>T	ENST00000322229.7	-	6	798	c.799C>A	c.(799-801)Cat>Aat	p.H267N	SYNJ1_ENST00000357345.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.H306N|SYNJ1_ENST00000382499.2_Missense_Mutation_p.H306N			O43426	SYNJ1_HUMAN	synaptojanin 1	267	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACACGATGAGATCCCACC	0.343																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(916-918)Cat>Aat		synaptojanin 1							75.0	63.0	67.0					21																	34060668		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34060668G>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.799C>A	21.37:g.34060668G>T	ENSP00000322234:p.His267Asn					SYNJ1_ENST00000433931.2_Missense_Mutation_p.H306N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.H267N	p.H306N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			7	915	-			267			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.916C>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207440	0.95033	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	6.16	6.16	0.99307	Synaptojanin, N-terminal (2);	0.042149	0.85682	D	0.000000	T	0.73768	0.3629	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.977;0.988;1.0;0.975;0.999	P;P;D;P;D	0.91635	0.896;0.838;0.999;0.838;0.994	T	0.73209	-0.4055	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	267;306;267;267;267	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	N	267;267;306;306;267;267	ENSP00000371931:H267N;ENSP00000349903:H267N;ENSP00000371939:H306N;ENSP00000409667:H306N;ENSP00000322234:H267N;ENSP00000413649:H267N	ENSP00000322234:H267N	H	-	1	0	SYNJ1	32982539	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.061000	0.93913	2.937000	0.99478	0.650000	0.86243	CAT		0.343	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	52	1	0	0.00909568	1	0.00923805	4	52				
FAM98A	25940	broad.mit.edu	37	2	33817226	33817226	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:33817226C>T	ENST00000238823.8	-	3	398	c.258G>A	c.(256-258)atG>atA	p.M86I	FAM98A_ENST00000403368.1_Missense_Mutation_p.M86I|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	86							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACGGGCAGTTCATCTCCCCTA	0.418																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(256-258)atG>atA		family with sequence similarity 98, member A							162.0	156.0	158.0					2																	33817226		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33817226C>T		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.258G>A	2.37:g.33817226C>T	ENSP00000238823:p.Met86Ile					FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Missense_Mutation_p.M86I|FAM98A_ENST00000441530.2_5'UTR	p.M86I	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			3	327	-	all_hematologic(175;0.115)		86					B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.258G>A	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563227	0.65538	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.40756	1.02;1.02	5.98	5.98	0.97165	.	0.047652	0.85682	D	0.000000	T	0.37892	0.1020	L	0.36672	1.1	0.80722	D	1	B	0.28291	0.206	B	0.25140	0.058	T	0.06716	-1.0811	10	0.31617	T	0.26	-8.9382	20.452	0.99131	0.0:1.0:0.0:0.0	.	86	Q8NCA5-2	.	I	86	ENSP00000238823:M86I;ENSP00000384711:M86I	ENSP00000238823:M86I	M	-	3	0	FAM98A	33670730	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.900000	0.48687	2.838000	0.97847	0.591000	0.81541	ATG		0.418	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		29	186	0	0	0	1	0	29	186				
NOV	4856	broad.mit.edu	37	8	120431405	120431405	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120431405C>G	ENST00000259526.3	+	4	824	c.597C>G	c.(595-597)gtC>gtG	p.V199V	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1518	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GAGTAGAAGTCTCTGACTCAA	0.478																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(595-597)gtC>gtG		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86.0	83.0	84.0					8																	120431405		2203	4300	6503	SO:0001819	synonymous_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431405C>G	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.597C>G	8.37:g.120431405C>G							p.V199V	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		4	824	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		199						Silent	SNP	ENST00000259526.3	37	c.597C>G	CCDS6328.1																																																																																				0.478	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		66	59	0	0	0	1	0	66	59				
PCNXL3	399909	broad.mit.edu	37	11	65390996	65390996	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:65390996G>T	ENST00000355703.3	+	12	2931	c.2392G>T	c.(2392-2394)Ggc>Tgc	p.G798C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	798						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCGGCGTGGGCCTGAGCAG	0.627																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(2392-2394)Ggc>Tgc		pecanex-like 3 (Drosophila)							63.0	70.0	68.0					11																	65390996		2109	4209	6318	SO:0001583	missense	399909					integral to membrane		g.chr11:65390996G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2392G>T	11.37:g.65390996G>T	ENSP00000347931:p.Gly798Cys						p.G798C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			12	2931	+			798					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.2392G>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025220	0.35701	.	.	ENSG00000197136	ENST00000355703	T	0.58797	0.31	4.31	3.3	0.37823	.	.	.	.	.	T	0.38321	0.1036	N	0.08118	0	0.32213	N	0.576327	D	0.60160	0.987	P	0.48189	0.57	T	0.45702	-0.9243	9	0.52906	T	0.07	.	4.1852	0.10395	0.1265:0.0:0.5806:0.293	.	798	Q9H6A9	PCX3_HUMAN	C	798	ENSP00000347931:G798C	ENSP00000347931:G798C	G	+	1	0	PCNXL3	65147572	0.373000	0.25073	0.098000	0.21074	0.522000	0.34438	0.876000	0.28092	1.951000	0.56629	0.407000	0.27541	GGC		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		10	24	1	0	1.76689e-08	1	1.95429e-08	10	24				
LRFN4	78999	broad.mit.edu	37	11	66626550	66626550	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:66626550G>C	ENST00000309602.4	+	1	1578	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	445	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCGAAGATGAGACCCTCATCT	0.662																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1333-1335)gaG>gaC		leucine rich repeat and fibronectin type III domain containing 4							61.0	61.0	61.0					11																	66626550		2196	4284	6480	SO:0001583	missense	78999					integral to membrane		g.chr11:66626550G>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1335G>C	11.37:g.66626550G>C	ENSP00000312535:p.Glu445Asp					PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	p.E445D	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	1578	+			445			Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1335G>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.987051	0.02180	.	.	ENSG00000173621	ENST00000309602	T	0.59224	0.28	4.26	2.36	0.29203	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000135	T	0.28665	0.0710	N	0.10945	0.07	0.80722	D	1	B	0.13594	0.008	B	0.26614	0.071	T	0.18587	-1.0332	10	0.02654	T	1	.	4.3033	0.10935	0.207:0.1909:0.6021:0.0	.	445	Q6PJG9	LRFN4_HUMAN	D	445	ENSP00000312535:E445D	ENSP00000312535:E445D	E	+	3	2	LRFN4	66383126	1.000000	0.71417	0.991000	0.47740	0.852000	0.48524	1.601000	0.36773	0.441000	0.26529	0.462000	0.41574	GAG		0.662	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		14	56	0	0	0	1	0	14	56				
ODF2	4957	broad.mit.edu	37	9	131233613	131233613	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:131233613G>C	ENST00000434106.3	+	6	810	c.447G>C	c.(445-447)caG>caC	p.Q149H	ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372814.3_Missense_Mutation_p.Q193H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q125H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q68H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q144H|ODF2_ENST00000604420.1_Missense_Mutation_p.Q149H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q144H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q130H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q149H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393527.3_Missense_Mutation_p.Q125H|ODF2_ENST00000546203.1_Missense_Mutation_p.Q130H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	149					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)			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						GTGAGCGCCAGATGGCCAAAA	0.577																																						ENST00000303890.5																			0				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						c.(373-375)caG>caC		outer dense fiber of sperm tails 2							119.0	110.0	113.0					9																	131233613		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.chr9:131233613G>C	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.447G>C	9.37:g.131233613G>C	ENSP00000403453:p.Gln149His					ODF2_ENST00000372807.5_Missense_Mutation_p.Q144H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q68H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q125H|ODF2_ENST00000372796.4_Missense_Mutation_p.Q149H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q193H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q130H|ODF2_ENST00000434106.2_Missense_Mutation_p.Q149H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q144H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q149H|ODF2_ENST00000535026.1_Intron|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.Q130H	p.Q125H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			8	960	+			149					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.375G>C	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112294	0.56398	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;1.4;-0.16;-0.16;-0.16;-0.16;-0.16	5.84	3.96	0.45880	.	0.315726	0.33854	N	0.004492	T	0.64516	0.2605	L	0.38531	1.155	0.80722	D	1	D;D;P;D;D;D;D;D;D;D	0.67145	0.981;0.993;0.763;0.981;0.985;0.996;0.993;0.981;0.991;0.981	B;P;P;P;P;D;P;B;P;P	0.67548	0.438;0.747;0.447;0.578;0.52;0.952;0.747;0.438;0.718;0.578	T	0.62969	-0.6741	10	0.49607	T	0.09	-26.3432	5.7378	0.18077	0.1732:0.1624:0.6643:0.0	.	130;144;68;83;149;193;144;130;149;125	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	H	149;193;144;149;125;68;68;125;149;130;130;73;130	ENSP00000377166:Q149H;ENSP00000361901:Q193H;ENSP00000342581:Q144H;ENSP00000361882:Q149H;ENSP00000307781:Q125H;ENSP00000396687:Q68H;ENSP00000394506:Q125H;ENSP00000403453:Q149H;ENSP00000437579:Q130H;ENSP00000415290:Q130H;ENSP00000361877:Q130H	ENSP00000307781:Q125H	Q	+	3	2	ODF2	130273434	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.811000	0.27198	0.769000	0.33313	0.491000	0.48974	CAG		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			4	73	0	0	0	1	0	4	73				
GPR12	2835	broad.mit.edu	37	13	27333516	27333516	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333516G>A	ENST00000381436.2	-	1	911	c.449C>T	c.(448-450)tCg>tTg	p.S150L	GPR12_ENST00000405846.3_Missense_Mutation_p.S150L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	150					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CGTCCTCTCCGAATGGTACGT	0.577																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(448-450)tCg>tTg		G protein-coupled receptor 12							96.0	79.0	84.0					13																	27333516		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333516G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.449C>T	13.37:g.27333516G>A	ENSP00000370844:p.Ser150Leu					GPR12_ENST00000381436.2_Missense_Mutation_p.S150L	p.S150L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	670	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	150					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.449C>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919176	0.92249	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.37752	1.18;1.18	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.061137	0.64402	D	0.000002	T	0.63438	0.2511	M	0.82630	2.6	0.80722	D	1	D	0.65815	0.995	D	0.62955	0.909	T	0.69143	-0.5223	10	0.87932	D	0	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	150	P47775	GPR12_HUMAN	L	150	ENSP00000384932:S150L;ENSP00000370844:S150L	ENSP00000370844:S150L	S	-	2	0	GPR12	26231516	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	9.696000	0.98695	2.532000	0.85374	0.561000	0.74099	TCG		0.577	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			17	17	0	0	0	1	0	17	17				
PEX19	5824	broad.mit.edu	37	1	160249959	160249959	+	Silent	SNP	G	G	A	rs140105219		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:160249959G>A	ENST00000368072.5	-	6	693	c.672C>T	c.(670-672)gtC>gtT	p.V224V	PEX19_ENST00000440949.3_Silent_p.V134V|DCAF8_ENST00000608310.1_Silent_p.V77V|DCAF8_ENST00000556710.1_Silent_p.V77V|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	224					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTGCACATGACGCTGTGCT	0.473																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(670-672)gtC>gtT		peroxisomal biogenesis factor 19							183.0	176.0	178.0					1																	160249959		2203	4300	6503	SO:0001819	synonymous_variant	5824							g.chr1:160249959G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.672C>T	1.37:g.160249959G>A						PEX19_ENST00000440949.3_Silent_p.V134V|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Silent_p.V77V	p.V224V	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	693	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	c.672C>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096047	0.20552	.	.	ENSG00000162735	ENST00000495624	.	.	.	5.79	0.324	0.15898	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-21.173	7.1565	0.25641	0.0645:0.3421:0.4756:0.1178	.	.	.	.	Y	62	.	.	H	-	1	0	PEX19	158516583	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	0.858000	0.27845	0.065000	0.16485	0.655000	0.94253	CAT		0.473	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		49	224	0	0	0	1	0	49	224				
MUM1L1	139221	broad.mit.edu	37	X	105451293	105451293	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105451293T>C	ENST00000357175.2	+	4	2517	c.1868T>C	c.(1867-1869)aTa>aCa	p.I623T	MUM1L1_ENST00000337685.2_Missense_Mutation_p.I623T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I623T	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	623						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGATCAAATAATGCCAACT	0.323																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1867-1869)aTa>aCa		melanoma associated antigen (mutated) 1-like 1							30.0	27.0	28.0					X																	105451293		1822	4067	5889	SO:0001583	missense	139221							g.chrX:105451293T>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1868T>C	X.37:g.105451293T>C	ENSP00000349699:p.Ile623Thr					MUM1L1_ENST00000357175.2_Missense_Mutation_p.I623T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I623T	p.I623T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2653	+			623					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1868T>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.640001	0.00799	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.40476	1.03;1.03;1.03	4.86	-5.78	0.02362	.	0.957970	0.08644	N	0.915053	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.24012	-1.0172	10	0.39692	T	0.17	-39.6868	9.3871	0.38349	0.712:0.0:0.1688:0.1192	.	623	Q5H9M0	MUML1_HUMAN	T	623	ENSP00000349699:I623T;ENSP00000338641:I623T;ENSP00000361632:I623T	ENSP00000338641:I623T	I	+	2	0	MUM1L1	105337949	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.053000	0.03500	-1.531000	0.01749	-0.991000	0.02546	ATA		0.323	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		11	6	0	0	0	1	0	11	6				
KCNT2	343450	broad.mit.edu	37	1	196342281	196342281	+	Silent	SNP	G	G	A	rs577209964		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:196342281G>A	ENST00000294725.9	-	14	2307	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	KCNT2_ENST00000367433.5_Silent_p.T464T|KCNT2_ENST00000451324.2_Silent_p.T75T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.T464T|KCNT2_ENST00000609185.1_Silent_p.T464T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	464	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCCCTCTAGAGGTATGAACCA	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13453	0.0		0.0	False		,,,				2504	0.0					ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1390-1392)acC>acT		potassium channel, subfamily T, member 2							83.0	82.0	82.0					1																	196342281		2203	4292	6495	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196342281G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1392C>T	1.37:g.196342281G>A						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.T464T|KCNT2_ENST00000451324.2_Silent_p.T75T|KCNT2_ENST00000294725.8_Silent_p.T464T	p.T464T			Q6UVM3	KCNT2_HUMAN			14	1493	-			464			RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.1392C>T	CCDS1384.1																																																																																				0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		34	97	0	0	0	1	0	34	97				
ABCA3	21	broad.mit.edu	37	16	2376014	2376014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:2376014G>A	ENST00000301732.5	-	5	1016	c.316C>T	c.(316-318)Cga>Tga	p.R106*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.R106*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.R106*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	106					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTCTCACCTCGCATGTTGATC	0.642																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70	GRCh37	CM040355	ABCA3	M		c.(316-318)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 3							55.0	56.0	55.0					16																	2376014		2198	4300	6498	SO:0001587	stop_gained	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376014G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.316C>T	16.37:g.2376014G>A	ENSP00000301732:p.Arg106*					ABCA3_ENST00000382381.3_Nonsense_Mutation_p.R106*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.R106*	p.R106*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			5	1016	-		Ovarian(90;0.17)	106					B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	c.316C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	40	8.526993	0.98850	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.63	0.223	0.15292	.	0.586313	0.18777	N	0.131448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5212	0.75869	0.0:0.0:0.7311:0.2689	.	.	.	.	X	106;168	.	ENSP00000301732:R106X	R	-	1	2	ABCA3	2316015	0.994000	0.37717	0.998000	0.56505	0.335000	0.28730	0.189000	0.17037	0.047000	0.15862	-0.262000	0.10625	CGA		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		12	35	0	0	0	1	0	12	35				
DUSP27	92235	broad.mit.edu	37	1	167097365	167097365	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167097365C>A	ENST00000361200.2	+	6	3163	c.2997C>A	c.(2995-2997)aaC>aaA	p.N999K	DUSP27_ENST00000271385.5_Missense_Mutation_p.N999K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.N999K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	999	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAATGGCAACTCTGTAAGAA	0.522																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2995-2997)aaC>aaA		dual specificity phosphatase 27 (putative)							83.0	78.0	80.0					1																	167097365		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097365C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2997C>A	1.37:g.167097365C>A	ENSP00000354483:p.Asn999Lys					DUSP27_ENST00000443333.1_Missense_Mutation_p.N999K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N999K	p.N999K			Q5VZP5	DUS27_HUMAN			6	3163	+			999			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2997C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869931	0.17322	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03094	4.05;4.05;4.05	5.42	4.49	0.54785	.	1.165050	0.06182	N	0.679607	T	0.01765	0.0056	L	0.51422	1.61	0.26299	N	0.978001	B	0.10296	0.003	B	0.04013	0.001	T	0.45249	-0.9274	10	0.72032	D	0.01	-11.6583	5.9421	0.19199	0.0:0.6841:0.1919:0.124	.	999	Q5VZP5	DUS27_HUMAN	K	999	ENSP00000354483:N999K;ENSP00000271385:N999K;ENSP00000404874:N999K	ENSP00000271385:N999K	N	+	3	2	DUSP27	165363989	0.963000	0.33076	0.087000	0.20705	0.404000	0.30871	2.012000	0.40932	1.234000	0.43709	0.643000	0.83706	AAC		0.522	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		14	59	1	0	3.45872e-05	1	3.6329e-05	14	59				
WDR70	55100	broad.mit.edu	37	5	37725077	37725077	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:37725077A>G	ENST00000265107.4	+	16	1795	c.1639A>G	c.(1639-1641)Aca>Gca	p.T547A		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	547							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAACGGAGTACAAGGAAACA	0.478																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1639-1641)Aca>Gca		WD repeat domain 70							136.0	138.0	137.0					5																	37725077		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37725077A>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1639A>G	5.37:g.37725077A>G	ENSP00000265107:p.Thr547Ala						p.T547A	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1795	+	all_lung(31;0.000285)		547					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1639A>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419878	0.42918	.	.	ENSG00000082068	ENST00000265107	T	0.67345	-0.26	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	N	0.25426	0.745	0.80722	D	1	B	0.21520	0.057	B	0.15870	0.014	T	0.50311	-0.8843	10	0.05351	T	0.99	-28.8415	16.4323	0.83853	1.0:0.0:0.0:0.0	.	547	Q9NW82	WDR70_HUMAN	A	547	ENSP00000265107:T547A	ENSP00000265107:T547A	T	+	1	0	WDR70	37760834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.281000	0.76405	0.528000	0.53228	ACA		0.478	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		60	105	0	0	0	1	0	60	105				
OR51D1	390038	broad.mit.edu	37	11	4661835	4661835	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:4661835C>T	ENST00000357605.2	+	1	891	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGGCTCTCGGTGGTGCAT	0.552																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(814-816)tCg>tTg		olfactory receptor, family 51, subfamily D, member 1							134.0	127.0	129.0					11																	4661835		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661835C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.815C>T	11.37:g.4661835C>T	ENSP00000350222:p.Ser272Leu						p.S272L	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	891	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	272					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.815C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802821	0.31869	.	.	ENSG00000197428	ENST00000357605	T	0.00091	8.74	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001502	T	0.00440	0.0014	M	0.78049	2.395	0.27487	N	0.952403	D	0.89917	1.0	D	0.97110	1.0	T	0.49184	-0.8966	10	0.52906	T	0.07	.	10.9386	0.47260	0.0:0.9082:0.0:0.0918	.	272	Q8NGF3	O51D1_HUMAN	L	272	ENSP00000350222:S272L	ENSP00000350222:S272L	S	+	2	0	OR51D1	4618411	0.000000	0.05858	0.997000	0.53966	0.001000	0.01503	0.482000	0.22276	2.527000	0.85204	0.563000	0.77884	TCG		0.552	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		38	42	0	0	0	1	0	38	42				
PAX1	5075	broad.mit.edu	37	20	21689200	21689200	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:21689200C>G	ENST00000398485.2	+	3	975	c.921C>G	c.(919-921)gcC>gcG	p.A307A	PAX1_ENST00000444366.2_Silent_p.A283A|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	307					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTGCAGGGGCCCTGGCTGGGA	0.627																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(919-921)gcC>gcG		paired box 1							77.0	92.0	87.0					20																	21689200		2203	4300	6503	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689200C>G		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.921C>G	20.37:g.21689200C>G						PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A283A	p.A307A	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	975	+			307					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.921C>G	CCDS13146.2																																																																																				0.627	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			38	104	0	0	0	1	0	38	104				
PHYH	5264	broad.mit.edu	37	10	13330428	13330428	+	Missense_Mutation	SNP	C	C	T	rs104894173		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13330428C>T	ENST00000263038.4	-	6	668	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	PHYH_ENST00000396920.3_Missense_Mutation_p.G187S|PHYH_ENST00000396913.2_Missense_Mutation_p.G104S	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	204			G -> S (in RD; total loss of activity; dbSNP:rs28939673). {ECO:0000269|PubMed:10709665, ECO:0000269|PubMed:10767344}.		cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.G204S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ACCAGACAGCCGTTGTTCCGG	0.627																																						ENST00000396920.3																			1	Substitution - Missense(1)	p.G204S(1)	endometrium(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CM001297	PHYH	M	rs104894173	c.(559-561)Ggc>Agc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						65.0	62.0	63.0					10																	13330428		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330428C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.610G>A	10.37:g.13330428C>T	ENSP00000263038:p.Gly204Ser					PHYH_ENST00000263038.4_Missense_Mutation_p.G204S|PHYH_ENST00000396913.2_Missense_Mutation_p.G104S	p.G187S			O14832	PAHX_HUMAN			6	963	-		Ovarian(717;0.0448)	204					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.559G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536823	0.85812	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12;-6.12	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.95004	3.61	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97395	0.9992	9	0.87932	D	0	-25.2905	19.819	0.96583	0.0:1.0:0.0:0.0	rs28939673	187;204	B1ALH6;O14832	.;PAHX_HUMAN	S	104;204;187;104;206	ENSP00000380121:G104S;ENSP00000263038:G204S;ENSP00000380126:G187S;ENSP00000412525:G104S;ENSP00000420117:G206S	ENSP00000263038:G204S	G	-	1	0	PHYH	13370434	1.000000	0.71417	0.656000	0.29637	0.004000	0.04260	5.971000	0.70440	2.691000	0.91804	0.655000	0.94253	GGC		0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			12	37	0	0	0	1	0	12	37				
HRH2	3274	broad.mit.edu	37	5	175111013	175111013	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:175111013G>T	ENST00000231683.2	+	1	2550	c.777G>T	c.(775-777)ctG>ctT	p.L259L	HRH2_ENST00000377291.2_Silent_p.L259L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	259					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCGTGGGCTGAGAGGGGATG	0.567																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(775-777)ctG>ctT		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						131.0	109.0	116.0					5																	175111013		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111013G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.777G>T	5.37:g.175111013G>T						HRH2_ENST00000377291.2_Silent_p.L259L	p.L259L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2550	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	259					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.777G>T	CCDS4395.1																																																																																				0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			4	56	1	0	0.150653	1	0.150653	4	56				
SLC14A2	8170	broad.mit.edu	37	18	43216994	43216994	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:43216994G>T	ENST00000255226.6	+	6	1506	c.690G>T	c.(688-690)aaG>aaT	p.K230N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K230N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	230					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCAGCAAGTGGGACCTCC	0.507																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(688-690)aaG>aaT		solute carrier family 14 (urea transporter), member 2							247.0	240.0	242.0					18																	43216994		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43216994G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.690G>T	18.37:g.43216994G>T	ENSP00000255226:p.Lys230Asn					SLC14A2_ENST00000586448.1_Missense_Mutation_p.K230N	p.K230N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			6	1506	+			230					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.690G>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760126	0.49468	.	.	ENSG00000132874	ENST00000255226	T	0.54279	0.58	5.25	2.3	0.28687	.	0.188898	0.46758	D	0.000268	T	0.55130	0.1901	M	0.75884	2.315	0.80722	D	1	P	0.42518	0.782	P	0.47941	0.562	T	0.54556	-0.8276	10	0.54805	T	0.06	-14.6359	5.2558	0.15546	0.5159:0.0:0.4841:0.0	.	230	Q15849	UT2_HUMAN	N	230	ENSP00000255226:K230N	ENSP00000255226:K230N	K	+	3	2	SLC14A2	41470992	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.521000	0.22893	0.787000	0.33731	0.561000	0.74099	AAG		0.507	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			120	157	1	0	5.16181e-52	1	7.16032e-52	120	157				
PDE1B	5153	broad.mit.edu	37	12	54966391	54966391	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:54966391A>G	ENST00000243052.3	+	7	1037	c.601A>G	c.(601-603)Act>Gct	p.T201A	PDE1B_ENST00000538346.1_Missense_Mutation_p.T160A|PDE1B_ENST00000550620.1_Missense_Mutation_p.T181A|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	201	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCAGATTCCCACTGTGTTTTT	0.478																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(601-603)Act>Gct		phosphodiesterase 1B, calmodulin-dependent							533.0	534.0	533.0					12																	54966391		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966391A>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.601A>G	12.37:g.54966391A>G	ENSP00000243052:p.Thr201Ala					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T181A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T160A	p.T201A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1037	+			201			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.601A>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698126	0.30142	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.67698	-0.28;-0.27;-0.27	4.69	3.53	0.40419	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.197033	0.43919	D	0.000509	T	0.43100	0.1232	N	0.11927	0.2	0.36527	D	0.870501	B;B	0.12630	0.006;0.003	B;B	0.15052	0.012;0.005	T	0.35176	-0.9799	10	0.30078	T	0.28	.	6.3646	0.21447	0.8074:0.0:0.1926:0.0	.	181;201	Q01064-2;Q01064	.;PDE1B_HUMAN	A	201;160;181	ENSP00000243052:T201A;ENSP00000442559:T160A;ENSP00000448519:T181A	ENSP00000243052:T201A	T	+	1	0	PDE1B	53252658	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	2.802000	0.47916	0.924000	0.37069	0.533000	0.62120	ACT		0.478	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			357	536	0	0	0	1	0	357	536				
AC005013.5	0	broad.mit.edu	37	7	28997171	28997171	+	lincRNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:28997171C>A	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							CCAGGGCGTTCCCGTCCAGCC	0.647																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							16.0	21.0	20.0					7																	28997171		1960	4135	6095			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997171C>A																													7.37:g.28997171C>A										Q7L0X0	TRIL_HUMAN			0	763	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.647	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			13	17	1	0	1.5842e-08	1	1.75888e-08	13	17				
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		7	Substitution - Missense(7)	p.S310F(6)|p.S310Y(1)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(838-840)tCc>tTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868208C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F	p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	10	1349	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	310					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.839C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			79	162	0	0	0	1	0	79	162				
MLXIP	22877	broad.mit.edu	37	12	122620140	122620140	+	Silent	SNP	G	G	T	rs372778175		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122620140G>T	ENST00000319080.7	+	11	2091	c.1959G>T	c.(1957-1959)gcG>gcT	p.A653A	MLXIP_ENST00000538698.1_Silent_p.A260A					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCACAGCGCAAGACCCCC	0.682																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1957-1959)gcG>gcT		MLX interacting protein							13.0	17.0	16.0					12																	122620140		1963	4137	6100	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620140G>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1959G>T	12.37:g.122620140G>T						MLXIP_ENST00000538698.1_Silent_p.A260A	p.A653A			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2091	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	653						Silent	SNP	ENST00000319080.7	37	c.1959G>T																																																																																					0.682	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		3	8	1	0	0.004672	1	0.00477001	3	8				
ADAMTS16	170690	broad.mit.edu	37	5	5146554	5146554	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:5146554A>T	ENST00000274181.7	+	3	625	c.487A>T	c.(487-489)Acc>Tcc	p.T163S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T163S|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	163					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCCCTTTCAACCTGCCAAGG	0.532																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(487-489)Acc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							73.0	73.0	73.0					5																	5146554		1932	4140	6072	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146554A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.487A>T	5.37:g.5146554A>T	ENSP00000274181:p.Thr163Ser					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T163S|CTD-2297D10.1_ENST00000514848.1_RNA	p.T163S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			3	625	+			163					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.487A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251294	0.80135	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.08193	3.12;3.12	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.87682	2.9	0.80722	D	1	D;D;D	0.65815	0.969;0.995;0.995	P;D;D	0.72338	0.735;0.975;0.977	T	0.15492	-1.0435	10	0.20519	T	0.43	.	15.3236	0.74141	1.0:0.0:0.0:0.0	.	163;163;163	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	163	ENSP00000274181:T163S;ENSP00000421631:T163S	ENSP00000274181:T163S	T	+	1	0	ADAMTS16	5199554	1.000000	0.71417	0.948000	0.38648	0.614000	0.37383	7.098000	0.76974	2.317000	0.78254	0.460000	0.39030	ACC		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		43	98	0	0	0	1	0	43	98				
MPP2	4355	broad.mit.edu	37	17	41975712	41975712	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:41975712G>A	ENST00000461854.1	-	3	153	c.68C>T	c.(67-69)cCc>cTc	p.P23L	MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000523501.1_Missense_Mutation_p.P12L|MPP2_ENST00000518766.1_Missense_Mutation_p.P68L|MPP2_ENST00000269095.4_Missense_Mutation_p.P23L|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000377184.3_Missense_Mutation_p.P40L|MPP2_ENST00000536246.1_Missense_Mutation_p.P12L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	23	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGTGGCACTGGGGAGGGATCC	0.567																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(67-69)cCc>cTc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							98.0	84.0	89.0					17																	41975712		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41975712G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.68C>T	17.37:g.41975712G>A	ENSP00000428286:p.Pro23Leu					MPP2_ENST00000377184.3_Missense_Mutation_p.P40L|MPP2_ENST00000536246.1_Missense_Mutation_p.P12L|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.P12L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.P23L|MPP2_ENST00000518766.1_Missense_Mutation_p.P68L	p.P23L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	3	372	-		Breast(137;0.00314)	23			L27 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	G	17.46	3.394235	0.62066	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241;ENST00000521178;ENST00000522172;ENST00000518478	T;T;T;T;T;T;T;T;T;T;T	0.46451	2.99;3.17;2.72;3.01;3.01;3.15;0.96;0.88;0.88;0.87;0.89	5.01	5.01	0.66863	L27, C-terminal (1);L27 (2);	.	.	.	.	T	0.56485	0.1988	M	0.67953	2.075	0.80722	D	1	P;D;B	0.53462	0.741;0.96;0.007	P;P;B	0.58130	0.507;0.833;0.02	T	0.50259	-0.8849	9	0.23891	T	0.37	.	15.8768	0.79170	0.0:0.0:1.0:0.0	.	68;23;40	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	L	40;23;23;12;12;68;12;23;12;23;23;23;23;23	ENSP00000366389:P40L;ENSP00000269095:P23L;ENSP00000428286:P23L;ENSP00000430540:P12L;ENSP00000438012:P12L;ENSP00000428182:P68L;ENSP00000428468:P12L;ENSP00000428354:P23L;ENSP00000430797:P23L;ENSP00000428938:P23L;ENSP00000430443:P23L	ENSP00000269095:P23L	P	-	2	0	MPP2	39331238	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.729000	0.91490	2.605000	0.88082	0.655000	0.94253	CCC		0.567	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		11	25	0	0	0	1	0	11	25				
SLC15A3	51296	broad.mit.edu	37	11	60714105	60714105	+	Silent	SNP	G	G	A	rs144860400		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:60714105G>A	ENST00000227880.3	-	2	980	c.747C>T	c.(745-747)ccC>ccT	p.P249P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	249					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGATGAAGACGGGGGTGGCAA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.0					ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(745-747)ccC>ccT		solute carrier family 15 (oligopeptide transporter), member 3		G		3,4403	6.2+/-15.9	0,3,2200	73.0	74.0	74.0		747	-9.1	0.1	11	dbSNP_134	74	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SLC15A3	NM_016582.2		0,4,6498	AA,AG,GG		0.0116,0.0681,0.0308		249/582	60714105	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714105G>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.747C>T	11.37:g.60714105G>A							p.P249P	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			2	980	-			249					Q9P2X9	Silent	SNP	ENST00000227880.3	37	c.747C>T	CCDS7998.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.142	0.785383	0.16189	6.81E-4	1.16E-4	ENSG00000110446	ENST00000442626	.	.	.	4.65	-9.06	0.00727	.	0.000000	0.52532	D	0.000079	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	6	0.33141	T	0.24	-29.7228	0.7852	0.01047	0.4108:0.1859:0.1283:0.275	.	.	.	.	L	249	.	ENSP00000403318:P249L	P	-	2	0	SLC15A3	60470681	0.000000	0.05858	0.080000	0.20451	0.957000	0.61999	-2.380000	0.01066	-1.857000	0.01159	-0.189000	0.12847	CCG		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		28	56	0	0	0	1	0	28	56				
SIGLEC6	946	broad.mit.edu	37	19	52034669	52034669	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52034669G>T	ENST00000425629.3	-	2	326	c.172C>A	c.(172-174)Cca>Aca	p.P58T	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	58	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TACGAGGCTGGAAGGGTAGTG	0.607																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(172-174)Cca>Aca		sialic acid binding Ig-like lectin 6							68.0	74.0	72.0					19																	52034669		2194	4298	6492	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034669G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.172C>A	19.37:g.52034669G>T	ENSP00000401502:p.Pro58Thr					SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58T	p.P58T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	240	-		all_neural(266;0.0199)	58			Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.172C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.978211	0.00448	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16727	0.0402	N	0.00256	-1.76	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002;0.0	T	0.08472	-1.0720	9	0.12103	T	0.63	.	2.1786	0.03868	0.1103:0.3102:0.3326:0.247	.	58;58;58;58;58;58	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	47;58;58;58;58;58	ENSP00000375674:P58T;ENSP00000401502:P58T;ENSP00000353071:P58T;ENSP00000345907:P58T	ENSP00000345907:P58T	P	-	1	0	SIGLEC6	56726481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.968000	0.00669	-3.394000	0.00172	-1.441000	0.01070	CCA		0.607	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		16	41	1	0	7.07596e-05	1	7.39242e-05	16	41				
CD163	9332	broad.mit.edu	37	12	7653818	7653818	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7653818G>A	ENST00000359156.4	-	3	576	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CD163_ENST00000432237.2_Missense_Mutation_p.S125L|CD163_ENST00000396620.3_Missense_Mutation_p.S125L|CD163_ENST00000541972.1_Missense_Mutation_p.S113L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	125	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAAAGAGCTGACTCATTCCC	0.478																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(373-375)tCa>tTa		CD163 molecule							180.0	179.0	179.0					12																	7653818		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653818G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.374C>T	12.37:g.7653818G>A	ENSP00000352071:p.Ser125Leu					CD163_ENST00000432237.2_Missense_Mutation_p.S125L|CD163_ENST00000541972.1_Missense_Mutation_p.S113L|CD163_ENST00000396620.3_Missense_Mutation_p.S125L	p.S125L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	576	-			125			SRCR 1.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.374C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563565	0.45694	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.15	4.24	0.50183	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.818837	0.10608	N	0.654769	T	0.41119	0.1145	M	0.65677	2.01	0.09310	N	1	P;B;B	0.34639	0.461;0.021;0.281	B;B;B	0.35240	0.198;0.009;0.137	T	0.37056	-0.9722	10	0.72032	D	0.01	.	12.4645	0.55751	0.0849:0.0:0.9151:0.0	.	125;125;125	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	125;113;125;125	ENSP00000352071:S125L;ENSP00000444071:S113L;ENSP00000379863:S125L;ENSP00000403885:S125L	ENSP00000352071:S125L	S	-	2	0	CD163	7545085	0.000000	0.05858	0.627000	0.29227	0.883000	0.51084	0.086000	0.14935	1.464000	0.47987	0.655000	0.94253	TCA		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		96	128	0	0	0	1	0	96	128				
UPF1	5976	broad.mit.edu	37	19	18967087	18967087	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18967087C>T	ENST00000599848.1	+	13	2044	c.1835C>T	c.(1834-1836)aCc>aTc	p.T612I	UPF1_ENST00000262803.5_Missense_Mutation_p.T601I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	612					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGAAGCGCACCGCAGAGAGA	0.602																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1801-1803)aCc>aTc		UPF1 regulator of nonsense transcripts homolog (yeast)							45.0	46.0	46.0					19																	18967087		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18967087C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1835C>T	19.37:g.18967087C>T	ENSP00000470142:p.Thr612Ile					UPF1_ENST00000599848.1_Missense_Mutation_p.T612I	p.T601I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			13	2074	+			612					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1802C>T		.	.	.	.	.	.	.	.	.	.	C	12.47	1.947685	0.34377	.	.	ENSG00000005007	ENST00000262803	D	0.81659	-1.52	4.29	4.29	0.51040	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	N	0.16233	0.39	0.80722	D	1	B;B	0.17852	0.024;0.008	B;B	0.20767	0.031;0.003	T	0.67814	-0.5573	10	0.52906	T	0.07	-29.8816	16.0865	0.81056	0.0:1.0:0.0:0.0	.	612;601	Q92900;Q92900-2	RENT1_HUMAN;.	I	601	ENSP00000262803:T601I	ENSP00000262803:T601I	T	+	2	0	UPF1	18828087	1.000000	0.71417	0.741000	0.31004	0.384000	0.30261	5.379000	0.66196	2.102000	0.63906	0.655000	0.94253	ACC		0.602	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		19	42	0	0	0	1	0	19	42				
LRFN3	79414	broad.mit.edu	37	19	36431274	36431274	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:36431274G>A	ENST00000588831.1	+	3	2001	c.947G>A	c.(946-948)cGc>cAc	p.R316H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R316H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	316	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGCCCTGCGCTGCCGGGCA	0.716																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(946-948)cGc>cAc		leucine rich repeat and fibronectin type III domain containing 3							6.0	7.0	7.0					19																	36431274		1886	3830	5716	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431274G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.947G>A	19.37:g.36431274G>A	ENSP00000466989:p.Arg316His					LRFN3_ENST00000246529.3_Missense_Mutation_p.R316H	p.R316H			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2001	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		316			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.947G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613706	0.66672	.	.	ENSG00000126243	ENST00000246529	T	0.67698	-0.28	4.97	2.81	0.32909	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224693	0.23002	N	0.053071	T	0.65883	0.2734	L	0.41492	1.28	0.35566	D	0.805113	D	0.69078	0.997	D	0.67725	0.953	T	0.66548	-0.5896	10	0.18276	T	0.48	.	4.5229	0.11968	0.1851:0.1949:0.62:0.0	.	316	Q9BTN0	LRFN3_HUMAN	H	316	ENSP00000246529:R316H	ENSP00000246529:R316H	R	+	2	0	LRFN3	41123114	0.009000	0.17119	1.000000	0.80357	0.991000	0.79684	0.685000	0.25378	1.073000	0.40885	0.460000	0.39030	CGC		0.716	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	11	0	0	0	1	0	3	11				
LEKR1	389170	broad.mit.edu	37	3	156763172	156763172	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:156763172G>T	ENST00000470811.1	+	14	2135	c.800G>T	c.(799-801)cGc>cTc	p.R267L	LEKR1_ENST00000356539.4_Missense_Mutation_p.R571L			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	267										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTGAAGAACGCTTTGAACTG	0.438																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(799-801)cGc>cTc		leucine, glutamate and lysine rich 1							92.0	94.0	94.0					3																	156763172		2203	4300	6503	SO:0001583	missense	389170							g.chr3:156763172G>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.800G>T	3.37:g.156763172G>T	ENSP00000418214:p.Arg267Leu					LEKR1_ENST00000356539.4_Missense_Mutation_p.R571L	p.R267L			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	2135	+			82						Missense_Mutation	SNP	ENST00000470811.1	37	c.800G>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.252007	0.80135	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.81247	-1.22;-1.47	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000008	D	0.88548	0.6466	M	0.75264	2.295	0.47441	D	0.999422	D	0.89917	1.0	D	0.91635	0.999	D	0.85769	0.1354	10	0.17369	T	0.5	-4.9656	17.8213	0.88651	0.0:0.0:1.0:0.0	.	267	Q6ZMV7	LEKR1_HUMAN	L	267;571	ENSP00000418214:R267L;ENSP00000348936:R571L	ENSP00000348936:R571L	R	+	2	0	LEKR1	158245866	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.267000	0.78462	2.289000	0.77006	0.655000	0.94253	CGC		0.438	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		28	55	1	0	4.22769e-11	1	4.87939e-11	28	55				
ATG4C	84938	broad.mit.edu	37	1	63282341	63282341	+	Nonsense_Mutation	SNP	A	A	T	rs201730291		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63282341A>T	ENST00000317868.4	+	4	463	c.256A>T	c.(256-258)Aga>Tga	p.R86*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R86*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	86					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TTTCATTTCTAGAATATGGCT	0.423																																						ENST00000317868.4																		ATG4C/FBXO38(2)	0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						c.(256-258)Aga>Tga		autophagy related 4C, cysteine peptidase							63.0	62.0	63.0					1																	63282341		2203	4300	6503	SO:0001587	stop_gained	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63282341A>T	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.256A>T	1.37:g.63282341A>T	ENSP00000322159:p.Arg86*					ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R86*	p.R86*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN			4	463	+			86					A6NLR8|D3DQ58|Q96K04	Nonsense_Mutation	SNP	ENST00000317868.4	37	c.256A>T	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	34	5.349429	0.95830	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	.	.	.	5.31	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.8855	12.1712	0.54160	0.8574:0.1426:0.0:0.0	.	.	.	.	X	86	.	ENSP00000322159:R86X	R	+	1	2	ATG4C	63054929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.789000	0.55454	2.126000	0.65437	0.533000	0.62120	AGA		0.423	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		14	28	0	0	0	1	0	14	28				
GTF3C6	112495	broad.mit.edu	37	6	111283710	111283710	+	Splice_Site	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:111283710T>C	ENST00000329970.7	+	5	571		c.e5+2		snoU13_ENST00000458794.1_RNA|GTF3C6_ENST00000480191.1_Splice_Site	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		AAAACATAGGTTAGTTCCATT	0.353																																						ENST00000329970.7																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.e5+2		general transcription factor IIIC, polypeptide 6, alpha 35kDa							59.0	58.0	58.0					6																	111283710		2203	4300	6503	SO:0001630	splice_region_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111283710T>C	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.361+2T>C	6.37:g.111283710T>C						GTF3C6_ENST00000480191.1_Splice_Site		NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	5	571	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)						Q5VXN2	Splice_Site	SNP	ENST00000329970.7	37		CCDS5087.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395945	0.62177	.	.	ENSG00000155115	ENST00000329970	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6527	0.56770	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF3C6	111390403	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	5.013000	0.64023	1.821000	0.53095	0.460000	0.39030	.		0.353	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408	Intron	14	31	0	0	0	1	0	14	31				
ADD2	119	broad.mit.edu	37	2	70900122	70900122	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:70900122G>T	ENST00000264436.4	-	15	2202	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	ADD2_ENST00000407644.2_Silent_p.A586A|ADD2_ENST00000355733.3_Missense_Mutation_p.P615H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	586					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCTCTTCTGGGGCAGTTTCTT	0.468																																						ENST00000355733.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1843-1845)cCc>cAc		adducin 2 (beta)							30.0	31.0	31.0					2																	70900122		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70900122G>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1758C>A	2.37:g.70900122G>T						ADD2_ENST00000264436.3_Silent_p.A586A|ADD2_ENST00000407644.2_Silent_p.A586A	p.P615H	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN			16	2288	-			0					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1844C>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	5.411	0.260936	0.10239	.	.	ENSG00000075340	ENST00000355733	T	0.08102	3.13	5.97	-0.786	0.10946	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.19575	N	0.999963	B	0.27791	0.189	B	0.31686	0.134	T	0.42085	-0.9472	8	0.87932	D	0	-4.4419	1.3533	0.02177	0.4041:0.1175:0.313:0.1654	.	615	P35612-3	.	H	615	ENSP00000347972:P615H	ENSP00000347972:P615H	P	-	2	0	ADD2	70753630	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.304000	0.08199	-0.059000	0.13154	-0.140000	0.14226	CCC		0.468	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		13	28	1	0	0.00136819	1	0.00139934	13	28				
CHRNA10	57053	broad.mit.edu	37	11	3692601	3692601	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:3692601C>A	ENST00000250699.2	-	0	13				CHRNA10_ENST00000534359.1_5'Flank|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CTGGCCAGACCTAGGGCAAAA	0.617																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7								cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						38.0	44.0	42.0					11																	3692601		692	1591	2283			57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3692601C>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844		11.37:g.3692601C>A								NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	13	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)							Translation_Start_Site	SNP	ENST00000250699.2	37		CCDS7745.1																																																																																				0.617	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			4	0	1	0	0.150653	1	0.150653	4	0				
RECQL5	9400	broad.mit.edu	37	17	73625553	73625553	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73625553G>C	ENST00000317905.5	-	16	2109	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L623L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	650					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTGGGTTTGAGCTGTAAAT	0.617								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1948-1950)ctC>ctG	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							22.0	24.0	23.0					17																	73625553		1943	4113	6056	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625553G>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1950C>G	17.37:g.73625553G>C						RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L623L	p.L650L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2109	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		650					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.1950C>G	CCDS42380.1																																																																																				0.617	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		9	63	0	0	0	1	0	9	63				
ZC3H4	23211	broad.mit.edu	37	19	47589732	47589732	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47589732C>A	ENST00000253048.5	-	6	816	c.779G>T	c.(778-780)gGc>gTc	p.G260V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	260	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTGCCCATGCCGCGGCCTCG	0.647																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(778-780)gGc>gTc		zinc finger CCCH-type containing 4							54.0	63.0	60.0					19																	47589732		1980	4134	6114	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47589732C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.779G>T	19.37:g.47589732C>A	ENSP00000253048:p.Gly260Val					ZC3H4_ENST00000594019.1_Intron	p.G260V	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	6	816	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	260			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.779G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373444	0.61624	.	.	ENSG00000130749	ENST00000253048	T	0.27890	1.64	5.12	5.12	0.69794	.	0.507685	0.18897	N	0.128148	T	0.49372	0.1553	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.40232	-0.9574	10	0.48119	T	0.1	.	17.7009	0.88294	0.0:1.0:0.0:0.0	.	260	Q9UPT8	ZC3H4_HUMAN	V	260	ENSP00000253048:G260V	ENSP00000253048:G260V	G	-	2	0	ZC3H4	52281572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.503000	0.53340	2.540000	0.85666	0.655000	0.94253	GGC		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			24	36	1	0	7.87624e-14	1	9.3872e-14	24	36				
MYOM3	127294	broad.mit.edu	37	1	24401884	24401884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:24401884G>A	ENST00000374434.3	-	22	2945	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	MYOM3_ENST00000329601.7_Missense_Mutation_p.S928L|MYOM3_ENST00000330966.7_Missense_Mutation_p.S929L|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	928						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGAAACTCTGAGGAGTCGGG	0.517																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2785-2787)tCa>tTa		myomesin 3							86.0	82.0	83.0					1																	24401884		1844	4089	5933	SO:0001583	missense	127294							g.chr1:24401884G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2783C>T	1.37:g.24401884G>A	ENSP00000363557:p.Ser928Leu					RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S928L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.S928L	p.S929L			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	22	2948	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	928					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2786C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089845	0.76756	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.55052	0.54;0.54;0.54	6.17	5.26	0.73747	Immunoglobulin-like fold (1);	0.598876	0.18599	N	0.136503	T	0.70885	0.3275	M	0.72894	2.215	0.19575	N	0.999966	P;B	0.50156	0.932;0.22	D;B	0.64321	0.924;0.054	T	0.65701	-0.6104	10	0.87932	D	0	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	928;928	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	L	928;929;928	ENSP00000363557:S928L;ENSP00000332670:S929L;ENSP00000328415:S928L	ENSP00000328415:S928L	S	-	2	0	MYOM3	24274471	0.011000	0.17503	0.021000	0.16686	0.860000	0.49131	1.828000	0.39111	1.616000	0.50265	0.655000	0.94253	TCA		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		9	113	0	0	0	1	0	9	113				
AHCTF1	25909	broad.mit.edu	37	1	247031021	247031021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:247031021T>A	ENST00000391829.2	-	25	3304	c.3181A>T	c.(3181-3183)Aaa>Taa	p.K1061*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.K1070*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.K1096*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1061	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAATTTTAGATAACACA	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3286-3288)Aaa>Taa		AT hook containing transcription factor 1							128.0	121.0	124.0					1																	247031021		2203	4297	6500	SO:0001587	stop_gained	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247031021T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3181A>T	1.37:g.247031021T>A	ENSP00000375705:p.Lys1061*					AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.K1070*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.K1061*	p.K1096*			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		25	3422	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1061					A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37	c.3286A>T		.	.	.	.	.	.	.	.	.	.	T	43	10.216194	0.99361	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5279	14.6034	0.68460	0.0:0.0:0.0:1.0	.	.	.	.	X	1096;1070;1061	.	ENSP00000355465:K1070X	K	-	1	0	AHCTF1	245097644	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.252000	0.78309	1.910000	0.55303	0.377000	0.23210	AAA		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		30	88	0	0	0	1	0	30	88				
ITPR2	3709	broad.mit.edu	37	12	26985673	26985673	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:26985673G>A	ENST00000381340.3	-	1	458	c.42C>T	c.(40-42)atC>atT	p.I14I	ITPR2_ENST00000242737.5_Silent_p.I14I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	14					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I14M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACAGGGACACGATGTCCCCTA	0.622																																						ENST00000381340.3																		ETV6/ITPR2(2)	1	Substitution - Missense(1)	p.I14M(1)	ovary(1)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(40-42)atC>atT		inositol 1,4,5-trisphosphate receptor, type 2							88.0	101.0	97.0					12																	26985673		2189	4300	6489	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26985673G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.42C>T	12.37:g.26985673G>A						ITPR2_ENST00000242737.5_Silent_p.I14I	p.I14I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			1	458	-	Colorectal(261;0.0847)		14					O94773	Silent	SNP	ENST00000381340.3	37	c.42C>T	CCDS41764.1																																																																																				0.622	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	78	0	0	0	1	0	11	78				
IRX3	79191	broad.mit.edu	37	16	54319355	54319355	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:54319355G>C	ENST00000329734.3	-	2	1150	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	146					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GGTGCTCGTTGAGCCAGGCCT	0.632																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(436-438)ctC>ctG		iroquois homeobox 3							142.0	109.0	120.0					16																	54319355		2198	4300	6498	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319355G>C	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.438C>G	16.37:g.54319355G>C							p.L146L	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1150	-			146					Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.438C>G	CCDS10750.1																																																																																				0.632	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			13	72	0	0	0	1	0	13	72				
EFCAB7	84455	broad.mit.edu	37	1	63999310	63999310	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63999310C>G	ENST00000371088.4	+	5	918	c.672C>G	c.(670-672)ttC>ttG	p.F224L		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	224							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAGAAACATTCTTAAATAAAG	0.353																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(670-672)ttC>ttG		EF-hand calcium binding domain 7							66.0	72.0	70.0					1																	63999310		2203	4299	6502	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999310C>G	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.672C>G	1.37:g.63999310C>G	ENSP00000360129:p.Phe224Leu						p.F224L	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			5	918	+			224					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.672C>G	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.218747	0.01542	.	.	ENSG00000203965	ENST00000371088	T	0.56103	0.48	5.93	0.467	0.16721	.	1.295950	0.04724	N	0.419830	T	0.14917	0.0360	L	0.44542	1.39	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.05869	-1.0859	10	0.09338	T	0.73	0.1066	1.0303	0.01536	0.3367:0.2979:0.2001:0.1653	.	224	A8K855	EFCB7_HUMAN	L	224	ENSP00000360129:F224L	ENSP00000360129:F224L	F	+	3	2	EFCAB7	63771898	0.000000	0.05858	0.667000	0.29798	0.374000	0.29953	0.168000	0.16622	0.360000	0.24265	0.655000	0.94253	TTC		0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		8	99	0	0	0	1	0	8	99				
OSBP2	23762	broad.mit.edu	37	22	31266543	31266543	+	Silent	SNP	C	C	T	rs34660027		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:31266543C>T	ENST00000332585.6	+	3	1085	c.981C>T	c.(979-981)ggC>ggT	p.G327G	OSBP2_ENST00000407373.1_Silent_p.G154G|OSBP2_ENST00000403222.3_Silent_p.G162G|OSBP2_ENST00000446658.2_Silent_p.G327G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Silent_p.G327G|OSBP2_ENST00000437268.2_Silent_p.G69G	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	327					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCAAGCACGGCGCTGCACTCC	0.597																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(979-981)ggC>ggT		oxysterol binding protein 2							68.0	73.0	71.0					22																	31266543		2159	4248	6407	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31266543C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.981C>T	22.37:g.31266543C>T						OSBP2_ENST00000407373.1_Silent_p.G154G|OSBP2_ENST00000382310.3_Silent_p.G327G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.G327G|OSBP2_ENST00000437268.2_Silent_p.G69G|OSBP2_ENST00000403222.3_Silent_p.G162G	p.G327G	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			3	1085	+			327					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.981C>T	CCDS43002.1																																																																																				0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		15	36	0	0	0	1	0	15	36				
OR8D4	338662	broad.mit.edu	37	11	123777945	123777945	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123777945C>T	ENST00000321355.2	+	1	837	c.807C>T	c.(805-807)acC>acT	p.T269T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GTTCACTCACCCAGGAGAAAG	0.413																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(805-807)acC>acT		olfactory receptor, family 8, subfamily D, member 4							99.0	100.0	100.0					11																	123777945		2202	4299	6501	SO:0001819	synonymous_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777945C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.807C>T	11.37:g.123777945C>T							p.T269T	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	837	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	269					Q6IFE9	Silent	SNP	ENST00000321355.2	37	c.807C>T	CCDS31698.1																																																																																				0.413	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		24	83	0	0	0	1	0	24	83				
EIF2B4	8890	broad.mit.edu	37	2	27591923	27591923	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:27591923C>A	ENST00000347454.4	-	4	539	c.368G>T	c.(367-369)gGa>gTa	p.G123V	SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000537606.1_5'Flank|SNX17_ENST00000543024.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000493344.2_Missense_Mutation_p.G144V|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.G143V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.G122V	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	123					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGTCCTCCTTGTTCCCC	0.562																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(430-432)gGa>gTa		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							95.0	89.0	91.0					2																	27591923		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27591923C>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.368G>T	2.37:g.27591923C>A	ENSP00000233552:p.Gly123Val					EIF2B4_ENST00000451130.2_Missense_Mutation_p.G143V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.G122V|EIF2B4_ENST00000347454.4_Missense_Mutation_p.G123V	p.G144V			Q9UI10	EI2BD_HUMAN			3	743	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		123					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.431G>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761497	0.69763	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.27	4.36	0.52297	.	0.150066	0.64402	D	0.000013	D	0.94945	0.8365	L	0.45581	1.43	0.80722	D	1	D;P;P;P;P	0.58620	0.983;0.939;0.892;0.722;0.939	P;P;P;B;P	0.59825	0.864;0.512;0.512;0.221;0.608	D	0.93350	0.6717	10	0.32370	T	0.25	-13.3601	15.956	0.79889	0.0:0.8532:0.1467:0.0	.	116;120;122;123;143	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	V	123;120;122;143;144	ENSP00000233552:G123V;ENSP00000394397:G122V;ENSP00000394869:G143V;ENSP00000429323:G144V	ENSP00000233552:G123V	G	-	2	0	EIF2B4	27445427	0.992000	0.36948	1.000000	0.80357	0.948000	0.59901	0.378000	0.20569	2.746000	0.94184	0.561000	0.74099	GGA		0.562	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			8	128	1	0	5.4927e-09	1	6.15689e-09	8	128				
CHRM2	1129	broad.mit.edu	37	7	136700236	136700236	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:136700236C>T	ENST00000445907.2	+	3	1152	c.624C>T	c.(622-624)caC>caT	p.H208H	hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Silent_p.H208H|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Silent_p.H208H|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.H208H|CHRM2_ENST00000320658.5_Silent_p.H208H|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Silent_p.H208H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	208					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|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)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TATATTGGCACATATCCCGAG	0.468																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(622-624)caC>caT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						57.0	51.0	53.0					7																	136700236		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700236C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.624C>T	7.37:g.136700236C>T						CHRM2_ENST00000401861.1_Silent_p.H208H|CHRM2_ENST00000397608.3_Silent_p.H208H|CHRM2_ENST00000320658.5_Silent_p.H208H|CHRM2_ENST00000402486.3_Silent_p.H208H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.H208H|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA	p.H208H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1152	+			208					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.624C>T	CCDS5843.1																																																																																				0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			17	61	0	0	0	1	0	17	61				
CDKN2AIP	55602	broad.mit.edu	37	4	184367416	184367416	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:184367416C>A	ENST00000504169.1	+	3	786	c.579C>A	c.(577-579)agC>agA	p.S193R	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	193	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCTCGGAGCTCTGGCATCT	0.507																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(577-579)agC>agA		CDKN2A interacting protein							93.0	91.0	92.0					4																	184367416		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367416C>A	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.579C>A	4.37:g.184367416C>A	ENSP00000427108:p.Ser193Arg					CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.S193R	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	786	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	193			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.579C>A	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418442	0.04766	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.17	4.33	0.51752	.	0.312185	0.28841	N	0.013976	T	0.39809	0.1092	N	0.24115	0.695	0.80722	D	1	P	0.45348	0.856	P	0.45506	0.483	T	0.11324	-1.0592	9	0.22109	T	0.4	-5.0789	9.3862	0.38345	0.0:0.9035:0.0:0.0965	.	193	Q9NXV6	CARF_HUMAN	R	193	.	ENSP00000427108:S193R	S	+	3	2	CDKN2AIP	184604410	0.612000	0.27000	0.150000	0.22450	0.080000	0.17528	1.129000	0.31381	1.396000	0.46663	0.655000	0.94253	AGC		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		4	51	1	0	0.00024832	1	0.000257582	4	51				
ADAM19	8728	broad.mit.edu	37	5	156991418	156991418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:156991418C>T	ENST00000517905.1	-	3	258	c.214G>A	c.(214-216)Gag>Aag	p.E72K	ADAM19_ENST00000394020.1_Missense_Mutation_p.E74K|ADAM19_ENST00000430702.2_5'UTR|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Missense_Mutation_p.E72K			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	72					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCGCCCCTCAGCCATTACC	0.502																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(214-216)Gag>Aag		ADAM metallopeptidase domain 19							108.0	99.0	102.0					5																	156991418		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156991418C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.214G>A	5.37:g.156991418C>T	ENSP00000428654:p.Glu72Lys					ADAM19_ENST00000517905.1_Missense_Mutation_p.E72K|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.E74K	p.E72K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	292	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	72					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.214G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.045271	0.93685	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.06449	3.3;3.3;3.3	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000035	T	0.18551	0.0445	L	0.50333	1.59	0.47547	D	0.999456	D	0.76494	0.999	D	0.66196	0.942	T	0.00057	-1.2171	10	0.52906	T	0.07	.	14.9742	0.71257	0.0:1.0:0.0:0.0	.	72	Q9H013-2	.	K	72;74;72	ENSP00000257527:E72K;ENSP00000377588:E74K;ENSP00000428654:E72K	ENSP00000257527:E72K	E	-	1	0	ADAM19	156923996	0.993000	0.37304	0.993000	0.49108	0.993000	0.82548	4.021000	0.57196	2.595000	0.87683	0.655000	0.94253	GAG		0.502	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		50	53	0	0	0	1	0	50	53				
AGAP1	116987	broad.mit.edu	37	2	236957853	236957853	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957853G>T	ENST00000304032.8	+	16	2622	c.2042G>T	c.(2041-2043)gGg>gTg	p.G681V	AGAP1_ENST00000428334.2_Missense_Mutation_p.G520V|AGAP1_ENST00000336665.5_Missense_Mutation_p.G628V|AGAP1_ENST00000409538.1_Missense_Mutation_p.G893V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	681	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATCCATCGGGAACGAGCTA	0.577																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2677-2679)gGg>gTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							89.0	87.0	88.0					2																	236957853		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957853G>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2042G>T	2.37:g.236957853G>T	ENSP00000307634:p.Gly681Val					AGAP1_ENST00000304032.7_Missense_Mutation_p.G681V|AGAP1_ENST00000428334.2_Missense_Mutation_p.G520V|AGAP1_ENST00000336665.5_Missense_Mutation_p.G628V	p.G893V			Q9UPQ3	AGAP1_HUMAN			15	3174	+			681					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2678G>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188525	0.94923	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	H	0.98646	4.29	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.97110	1.0;0.814	D	0.93209	0.6598	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	628;681	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	V	681;628;893;520	ENSP00000307634:G681V;ENSP00000338378:G628V;ENSP00000386897:G893V;ENSP00000411824:G520V	ENSP00000307634:G681V	G	+	2	0	AGAP1	236622592	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.722000	0.98770	2.738000	0.93877	0.655000	0.94253	GGG		0.577	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		34	76	1	0	4.4194e-11	1	5.09059e-11	34	76				
FHOD3	80206	broad.mit.edu	37	18	34081964	34081964	+	Splice_Site	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:34081964T>A	ENST00000359247.4	+	4	405		c.e4+2		FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site|FHOD3_ENST00000257209.4_Splice_Site	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATATTTCAGGTAAATAGGAAA	0.333																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.e4+2		formin homology 2 domain containing 3							24.0	24.0	24.0					18																	34081964		2199	4298	6497	SO:0001630	splice_region_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34081964T>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.405+2T>A	18.37:g.34081964T>A						FHOD3_ENST00000359247.4_Splice_Site|FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site		NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			4	527	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)						A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Splice_Site	SNP	ENST00000359247.4	37			.	.	.	.	.	.	.	.	.	.	T	18.74	3.688695	0.68271	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7522	0.62915	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FHOD3	32335962	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.348000	0.73009	2.191000	0.70037	0.533000	0.62120	.		0.333	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	Intron	10	30	0	0	0	1	0	10	30				
IRF4	3662	broad.mit.edu	37	6	407582	407582	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:407582C>A	ENST00000380956.4	+	9	1466	c.1340C>A	c.(1339-1341)tCc>tAc	p.S447Y		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	447					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ATCCGCCATTCCTCTATTCAA	0.383			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1339-1341)tCc>tAc		interferon regulatory factor 4							75.0	76.0	76.0					6																	407582		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407582C>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1340C>A	6.37:g.407582C>A	ENSP00000370343:p.Ser447Tyr						p.S447Y	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1466	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	447					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1340C>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489585	0.84962	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97303	-4.33	5.51	5.51	0.81932	.	0.617800	0.16644	N	0.205492	D	0.93949	0.8063	N	0.24115	0.695	0.52501	D	0.999958	D;P	0.54207	0.965;0.94	P;P	0.56700	0.804;0.641	D	0.91469	0.5195	10	0.02654	T	1	-30.1878	19.4315	0.94772	0.0:1.0:0.0:0.0	.	446;447	Q15306-2;Q15306	.;IRF4_HUMAN	Y	447;476	ENSP00000370343:S447Y	ENSP00000370343:S447Y	S	+	2	0	IRF4	352582	0.996000	0.38824	0.998000	0.56505	0.972000	0.66771	3.660000	0.54496	2.600000	0.87896	0.655000	0.94253	TCC		0.383	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			19	21	1	0	1.40151e-16	1	1.73041e-16	19	21				
DLG2	1740	broad.mit.edu	37	11	83770503	83770503	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:83770503C>A	ENST00000532653.1	-	6	761	c.459G>T	c.(457-459)gtG>gtT	p.V153V	DLG2_ENST00000398309.2_Silent_p.V153V|DLG2_ENST00000418306.2_Silent_p.V102V|DLG2_ENST00000524982.1_Silent_p.V153V|DLG2_ENST00000330014.6_Silent_p.V92V|DLG2_ENST00000543673.1_Silent_p.V258V|DLG2_ENST00000398301.2_Silent_p.V192V|DLG2_ENST00000376104.2_Silent_p.V258V|DLG2_ENST00000531015.1_Silent_p.V120V|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000280241.8_Silent_p.V192V|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAACCTCATTCACCCGCAAGA	0.443																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(457-459)gtG>gtT		discs, large homolog 2 (Drosophila)							69.0	63.0	65.0					11																	83770503		1902	4144	6046	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83770503C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.459G>T	11.37:g.83770503C>A						DLG2_ENST00000376104.2_Silent_p.V258V|DLG2_ENST00000531015.1_Silent_p.V120V|DLG2_ENST00000280241.8_Silent_p.V192V|DLG2_ENST00000543673.1_Silent_p.V258V|DLG2_ENST00000398301.2_Silent_p.V192V|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Silent_p.V92V|DLG2_ENST00000532653.1_Silent_p.V153V|DLG2_ENST00000524982.1_Silent_p.V153V|DLG2_ENST00000418306.2_Silent_p.V102V	p.V153V	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			6	929	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	153			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.459G>T																																																																																					0.443	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		13	26	1	0	5.50884e-06	1	5.84938e-06	13	26				
USH2A	7399	broad.mit.edu	37	1	215990530	215990530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215990530G>A	ENST00000307340.3	-	48	9765	c.9379C>T	c.(9379-9381)Caa>Taa	p.Q3127*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q3127*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3127	Fibronectin type-III 18. {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)			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)		CAATCAATTTGAAGAGATCTG	0.363										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(9379-9381)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							80.0	80.0	80.0					1																	215990530		2203	4300	6503	SO:0001587	stop_gained	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.chr1:215990530G>A	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.9379C>T	1.37:g.215990530G>A	ENSP00000305941:p.Gln3127*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3127*	p.Q3127*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9765	-			3127			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.9379C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	53	20.421801	0.99930	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.29	5.29	0.74685	.	0.330624	0.21608	N	0.071827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	.	.	.	X	3127	.	ENSP00000305941:Q3127X	Q	-	1	0	USH2A	214057153	1.000000	0.71417	0.988000	0.46212	0.826000	0.46750	7.103000	0.77014	2.648000	0.89879	0.561000	0.74099	CAA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	96	0	0	0	1	0	6	96				
STK31	56164	broad.mit.edu	37	7	23871926	23871926	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871926G>C	ENST00000355870.3	+	24	3120	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	STK31_ENST00000428484.1_Missense_Mutation_p.E978Q|STK31_ENST00000354639.3_Missense_Mutation_p.E978Q|STK31_ENST00000433467.2_Missense_Mutation_p.E978Q|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1001	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATAAAGACGGAGAACTTGGA	0.328																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2932-2934)Gag>Cag		serine/threonine kinase 31							73.0	81.0	78.0					7																	23871926		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871926G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3001G>C	7.37:g.23871926G>C	ENSP00000348132:p.Glu1001Gln					STK31_ENST00000428484.1_Missense_Mutation_p.E978Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E978Q|STK31_ENST00000355870.3_Missense_Mutation_p.E1001Q	p.E978Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3396	+			1001			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2932G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	4.565	0.104937	0.08731	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.71222	-0.55;1.18;-0.55;-0.55	4.82	2.98	0.34508	Protein kinase, catalytic domain (1);	0.379952	0.25227	N	0.032189	T	0.55386	0.1917	L	0.36672	1.1	0.22562	N	0.998987	B;B;B	0.17465	0.008;0.022;0.022	B;B;B	0.16289	0.01;0.015;0.015	T	0.50608	-0.8808	10	0.62326	D	0.03	-4.0898	4.7469	0.13042	0.1955:0.1803:0.6242:0.0	.	978;1001;1001	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	Q	1001;978;978;978	ENSP00000348132:E1001Q;ENSP00000411852:E978Q;ENSP00000346660:E978Q;ENSP00000406146:E978Q	ENSP00000346660:E978Q	E	+	1	0	STK31	23838451	0.963000	0.33076	0.993000	0.49108	0.091000	0.18340	0.996000	0.29719	1.149000	0.42402	0.313000	0.20887	GAG		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		41	99	0	0	0	1	0	41	99				
LRCH2	57631	broad.mit.edu	37	X	114357122	114357122	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:114357122G>A	ENST00000317135.8	-	20	2176	c.2146C>T	c.(2146-2148)Ctt>Ttt	p.L716F	LRCH2_ENST00000538422.1_Missense_Mutation_p.L699F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAGCATCAAGAAAATTTTCT	0.323																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(2146-2148)Ctt>Ttt		leucine-rich repeats and calponin homology (CH) domain containing 2							93.0	79.0	83.0					X																	114357122		1819	4069	5888	SO:0001583	missense	57631							g.chrX:114357122G>A	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2146C>T	X.37:g.114357122G>A	ENSP00000325091:p.Leu716Phe					LRCH2_ENST00000538422.1_Missense_Mutation_p.L699F	p.L716F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			20	2176	-			716			CH.		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.2146C>T	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263425	0.59431	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.96365	-3.99;-3.99	5.37	5.37	0.77165	Calponin homology domain (5);	0.071641	0.56097	D	0.000031	D	0.98601	0.9532	H	0.97023	3.925	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99069	1.0833	10	0.87932	D	0	-10.6983	10.2449	0.43334	0.0919:0.0:0.9081:0.0	.	716;699	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	F	716;195;699	ENSP00000325091:L716F;ENSP00000439366:L699F	ENSP00000325091:L716F	L	-	1	0	LRCH2	114263378	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.067000	0.50010	2.495000	0.84180	0.544000	0.68410	CTT		0.323	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		14	9	0	0	0	1	0	14	9				
LRP2	4036	broad.mit.edu	37	2	170063179	170063179	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:170063179C>A	ENST00000263816.3	-	39	7336	c.7051G>T	c.(7051-7053)Ggt>Tgt	p.G2351C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2351	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAGCACCCACCATTGTTTTCC	0.498																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7051-7053)Ggt>Tgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						98.0	90.0	93.0					2																	170063179		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063179C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7051G>T	2.37:g.170063179C>A	ENSP00000263816:p.Gly2351Cys						p.G2351C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7336	-			2351			EGF-like 9.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7051G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902177	0.92035	.	.	ENSG00000081479	ENST00000263816	D	0.95690	-3.78	6.07	6.07	0.98685	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2351	P98164	LRP2_HUMAN	C	2351	ENSP00000263816:G2351C	ENSP00000263816:G2351C	G	-	1	0	LRP2	169771425	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GGT		0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		27	42	1	0	4.22769e-11	1	4.87939e-11	27	42				
RPGRIP1L	23322	broad.mit.edu	37	16	53730185	53730185	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53730185C>T	ENST00000379925.3	-	3	158	c.108G>A	c.(106-108)atG>atA	p.M36I	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M36I	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	36					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGCGAGACTTCATTGTCCGTG	0.383																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(106-108)atG>atA		RPGRIP1-like							165.0	164.0	165.0					16																	53730185		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730185C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.108G>A	16.37:g.53730185C>T	ENSP00000369257:p.Met36Ile					RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M36I	p.M36I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			3	201	-		all_cancers(37;0.0973)	36					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.108G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	2.563	-0.301480	0.05495	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.78707	-1.2;-1.2	5.67	4.69	0.59074	.	0.785840	0.12413	N	0.471064	T	0.47173	0.1431	N	0.02247	-0.625	0.26567	N	0.973626	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.41324	-0.9515	10	0.10377	T	0.69	-2.3091	2.8764	0.05632	0.2969:0.4516:0.1448:0.1067	.	36;36;36;36	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	I	36	ENSP00000369257:M36I;ENSP00000262135:M36I	ENSP00000262135:M36I	M	-	3	0	RPGRIP1L	52287686	0.661000	0.27430	0.997000	0.53966	0.997000	0.91878	0.109000	0.15417	1.336000	0.45506	0.563000	0.77884	ATG		0.383	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		69	170	0	0	0	1	0	69	170				
CYP2C9	1559	broad.mit.edu	37	10	96748783	96748783	+	Nonstop_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:96748783T>A	ENST00000260682.6	+	9	1483	c.1471T>A	c.(1471-1473)Tga>Aga	p.*491R		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	0					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTCCTGTCTGAAGAAGAGC	0.507																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1471-1473)Tga>Aga		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						121.0	112.0	115.0					10																	96748783		2203	4300	6503	SO:0001578	stop_lost	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96748783T>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1471T>A	10.37:g.96748783T>A	ENSP00000260682:p.*491Argext*42						p.*491R	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	9	1483	+		Colorectal(252;0.0902)	0					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Nonstop_Mutation	SNP	ENST00000260682.6	37	c.1471T>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	T	7.989	0.752917	0.15778	.	.	ENSG00000138109	ENST00000260682	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1221	0.42627	0.0:0.0:0.0:1.0	.	.	.	.	R	491	.	.	X	+	1	0	CYP2C9	96738773	0.448000	0.25681	0.005000	0.12908	0.007000	0.05969	4.950000	0.63603	1.563000	0.49615	0.372000	0.22366	TGA		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		72	40	0	0	0	1	0	72	40				
SMAD4	4089	broad.mit.edu	37	18	48573328	48573328	+	5'UTR	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:48573328G>T	ENST00000342988.3	+	0	450				SMAD4_ENST00000588745.1_5'Flank|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.V66F|SMAD4_ENST00000398417.2_5'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4						atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)			NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCCTTGCAACGTTAGCTGTTG	0.308																																						ENST00000590722.2																			0											c.(196-198)Gtt>Ttt																																						SO:0001623	5_prime_UTR_variant	4089							g.chr18:48573328G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.-89G>T	18.37:g.48573328G>T						SMAD4_ENST00000398417.2_5'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR	p.V66F							3	300	+								A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.196G>T	CCDS11950.1																																																																																				0.308	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		6	9	1	0	0.0215528	1	0.0217389	6	9				
SLC35C1	55343	broad.mit.edu	37	11	45827727	45827727	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:45827727C>T	ENST00000314134.3	+	1	1771	c.375C>T	c.(373-375)atC>atT	p.I125I	SLC35C1_ENST00000442528.2_Silent_p.I112I|SLC35C1_ENST00000456334.1_Silent_p.I112I	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	125					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTCTTCATCGGCATGATCA	0.632																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(373-375)atC>atT		solute carrier family 35 (GDP-fucose transporter), member C1							131.0	98.0	109.0					11																	45827727		2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827727C>T		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.375C>T	11.37:g.45827727C>T						SLC35C1_ENST00000442528.2_Silent_p.I112I|SLC35C1_ENST00000456334.1_Silent_p.I112I	p.I125I	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1771	+			125					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.375C>T	CCDS7914.1																																																																																				0.632	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		25	63	0	0	0	1	0	25	63				
DSC2	1824	broad.mit.edu	37	18	28651652	28651652	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:28651652C>G	ENST00000280904.6	-	13	2487	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.D682H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	682	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCCTTGGATCTACACGATGT	0.438																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2044-2046)Gat>Cat		desmocollin 2							131.0	107.0	115.0					18																	28651652		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651652C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2044G>C	18.37:g.28651652C>G	ENSP00000280904:p.Asp682His					DSC2_ENST00000251081.6_Missense_Mutation_p.D682H	p.D682H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2487	-			682			Cadherin 5.			Missense_Mutation	SNP	ENST00000280904.6	37	c.2044G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604807	0.46423	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.60299	0.27;0.2	5.78	-4.97	0.03029	Cadherin (1);	2.793650	0.01842	N	0.035419	T	0.49881	0.1583	L	0.29908	0.895	0.09310	N	1	P;P	0.41393	0.748;0.742	B;P	0.45474	0.401;0.482	T	0.52117	-0.8618	10	0.45353	T	0.12	.	8.7212	0.34441	0.0:0.2975:0.2865:0.4159	.	682;682	Q02487;Q02487-2	DSC2_HUMAN;.	H	682;682;448;695	ENSP00000251081:D682H;ENSP00000280904:D682H	ENSP00000251081:D682H	D	-	1	0	DSC2	26905650	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.576000	0.00910	-1.062000	0.03181	-0.746000	0.03513	GAT		0.438	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		4	62	0	0	0	1	0	4	62				
PIK3C2G	5288	broad.mit.edu	37	12	18715688	18715688	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18715688C>T	ENST00000266497.5	+	25	3557	c.3519C>T	c.(3517-3519)atC>atT	p.I1173I	PIK3C2G_ENST00000433979.1_Silent_p.I1173I|PIK3C2G_ENST00000538779.1_Silent_p.I1214I			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1173	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAACTTGATCCACACACTTG	0.393																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3517-3519)atC>atT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							83.0	78.0	79.0					12																	18715688		1866	4099	5965	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18715688C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3519C>T	12.37:g.18715688C>T						PIK3C2G_ENST00000266497.5_Silent_p.I1173I|PIK3C2G_ENST00000538779.1_Silent_p.I1214I	p.I1173I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			26	3635	+		Hepatocellular(102;0.194)	1173			PI3K/PI4K.		A1L3U0	Silent	SNP	ENST00000266497.5	37	c.3519C>T	CCDS44839.1																																																																																				0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		9	10	0	0	0	1	0	9	10				
SRSF2	6427	broad.mit.edu	37	17	74733103	74733103	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:74733103C>A	ENST00000392485.2	-	1	312	c.140G>T	c.(139-141)cGg>cTg	p.R47L	MFSD11_ENST00000591864.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.R47L|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.R47L|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	47	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GTAGCGGTCCCGCGGGATGTA	0.657			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(139-141)cGg>cTg		serine/arginine-rich splicing factor 2							26.0	30.0	29.0					17																	74733103		2200	4299	6499	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74733103C>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.140G>T	17.37:g.74733103C>A	ENSP00000376276:p.Arg47Leu					RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.R47L|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R47L|MFSD11_ENST00000588460.1_5'UTR	p.R47L	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	312	-			47			RRM.		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.140G>T	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359970	0.82353	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.75704	-0.96;-0.96;-0.96	4.95	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.068849	0.56097	D	0.000032	T	0.69611	0.3130	N	0.16656	0.425	0.80722	D	1	P;P	0.41102	0.492;0.738	P;P	0.48488	0.579;0.579	T	0.70421	-0.4876	10	0.35671	T	0.21	.	17.7561	0.88449	0.0:1.0:0.0:0.0	.	47;47	B4DN89;Q01130	.;SRSF2_HUMAN	L	47;47;74;35;47	ENSP00000391278:R47L;ENSP00000376276:R47L;ENSP00000353089:R47L	ENSP00000350877:R35L	R	-	2	0	SRSF2	72244698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.292000	0.77174	0.462000	0.41574	CGG		0.657	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		10	41	1	0	2.17888e-05	1	2.29273e-05	10	41				
SEMA6C	10500	broad.mit.edu	37	1	151108997	151108997	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:151108997C>A	ENST00000341697.3	-	12	2724	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	345	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGAACTTGCCCTCAAACCCA	0.557																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1033-1035)Ggc>Tgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							133.0	134.0	134.0					1																	151108997		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108997C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1033G>T	1.37:g.151108997C>A	ENSP00000344148:p.Gly345Cys						p.G345C			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	2724	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		345			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1033G>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667468	0.88348	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.77143	-0.2696	10	0.87932	D	0	.	15.1894	0.73032	0.0:1.0:0.0:0.0	.	345;305;345;345	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	C	345;305;345;345;345	ENSP00000357910:G345C;ENSP00000357908:G305C;ENSP00000357909:G345C;ENSP00000344148:G345C	ENSP00000344148:G345C	G	-	1	0	SEMA6C	149375621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.444000	0.82710	0.491000	0.48974	GGC		0.557	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		48	159	1	0	5.78141e-17	1	7.15327e-17	48	159				
CD1C	911	broad.mit.edu	37	1	158262029	158262029	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158262029G>A	ENST00000368170.3	+	3	763	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	162					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGCCCAAAGTGTCTGTCATCT	0.453																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(484-486)Gtc>Atc		CD1c molecule							231.0	233.0	232.0					1																	158262029		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262029G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.484G>A	1.37:g.158262029G>A	ENSP00000357152:p.Val162Ile						p.V162I	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	763	+	all_hematologic(112;0.0378)		162					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.484G>A	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.766|9.766	1.171483|1.171483	0.21704|0.21704	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.06768	.|3.26	3.92|3.92	-0.446|-0.446	0.12238|0.12238	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.114880	.|0.07113	.|N	.|0.842565	T|T	0.02267|0.02267	0.0070|0.0070	L|L	0.50847|0.50847	1.595|1.595	0.09310|0.09310	N|N	1|1	.|B	.|0.17465	.|0.022	.|B	.|0.15484	.|0.013	T|T	0.46373|0.46373	-0.9196|-0.9196	5|10	.|0.37606	.|T	.|0.19	.|.	2.7165|2.7165	0.05189|0.05189	0.383:0.0:0.4095:0.2075|0.383:0.0:0.4095:0.2075	.|.	.|162	.|P29017	.|CD1C_HUMAN	Y|I	96|162	.|ENSP00000357152:V162I	.|ENSP00000357151:V162I	C|V	+|+	2|1	0|0	CD1C|CD1C	156528653|156528653	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.747000|-0.747000	0.04823|0.04823	0.047000|0.047000	0.15862|0.15862	0.644000|0.644000	0.83932|0.83932	TGT|GTC		0.453	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		153	184	0	0	0	1	0	153	184				
ALCAM	214	broad.mit.edu	37	3	105264151	105264151	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:105264151G>T	ENST00000306107.5	+	9	1576	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	ALCAM_ENST00000389927.4_Missense_Mutation_p.S81I|ALCAM_ENST00000472644.2_Missense_Mutation_p.S359I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.S308I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	359	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATATCTGCTAGCAGGAATGCA	0.383																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1075-1077)aGc>aTc		activated leukocyte cell adhesion molecule							180.0	165.0	170.0					3																	105264151		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105264151G>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1076G>T	3.37:g.105264151G>T	ENSP00000305988:p.Ser359Ile					ALCAM_ENST00000389927.4_Missense_Mutation_p.S81I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.S359I|ALCAM_ENST00000486979.2_Missense_Mutation_p.S308I	p.S359I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			9	1576	+			359			Ig-like C2-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1076G>T	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.317633|4.317633	0.81469|0.81469	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.12672|.	2.66;2.66;2.66;2.66|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.088280|.	0.85682|.	D|.	0.000000|.	T|.	0.75989|.	0.3925|.	M|M	0.70842|0.70842	2.15|2.15	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.74836|.	-0.3529|.	10|.	0.45353|.	T|.	0.12|.	-14.8215|-14.8215	19.2766|19.2766	0.94034|0.94034	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;359;359|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	I|Y	359;359;308;81|119	ENSP00000305988:S359I;ENSP00000419236:S359I;ENSP00000418213:S308I;ENSP00000374577:S81I|.	ENSP00000305988:S359I|.	S|X	+|+	2|3	0|2	ALCAM|ALCAM	106746841|106746841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	4.709000|4.709000	0.61867|0.61867	2.618000|2.618000	0.88619|0.88619	0.563000|0.563000	0.77884|0.77884	AGC|TAG		0.383	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		23	78	1	0	1.64293e-13	1	1.95015e-13	23	78				
CCNB3	85417	broad.mit.edu	37	X	50054110	50054110	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50054110G>A	ENST00000376042.1	+	6	3239	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A981T			Q8WWL7	CCNB3_HUMAN	cyclin B3	981					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCTAGCACTGCCCCTGAATC	0.478																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2941-2943)Gcc>Acc		cyclin B3							94.0	82.0	86.0					X																	50054110		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054110G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2941G>A	X.37:g.50054110G>A	ENSP00000365210:p.Ala981Thr					CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A981T|CCNB3_ENST00000376038.1_Intron	p.A981T			Q8WWL7	CCNB3_HUMAN			6	3239	+	Ovarian(276;0.236)		981					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2941G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415043	0.25552	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.19938	2.11;2.11	3.31	-0.8	0.10897	.	167.857000	0.00397	N	0.000048	T	0.09468	0.0233	N	0.11000	0.08	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.09552	-1.0669	9	.	.	.	.	1.9078	0.03281	0.1281:0.3711:0.3097:0.191	.	981	Q8WWL7	CCNB3_HUMAN	T	981	ENSP00000365210:A981T;ENSP00000276014:A981T	.	A	+	1	0	CCNB3	50070850	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.436000	0.06922	-0.331000	0.08501	0.422000	0.28245	GCC		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			48	30	0	0	0	1	0	48	30				
DAB2IP	153090	broad.mit.edu	37	9	124544672	124544672	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:124544672G>T	ENST00000408936.3	+	16	3647	c.3465G>T	c.(3463-3465)ctG>ctT	p.L1155L	DAB2IP_ENST00000259371.2_Silent_p.L1127L|DAB2IP_ENST00000309989.1_Silent_p.L1031L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1155					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGACCCAGCTGAAAGAGAGGT	0.567																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(3463-3465)ctG>ctT		DAB2 interacting protein							165.0	149.0	154.0					9																	124544672		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124544672G>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3465G>T	9.37:g.124544672G>T						DAB2IP_ENST00000309989.1_Silent_p.L1031L|DAB2IP_ENST00000259371.2_Silent_p.L1127L	p.L1155L			Q5VWQ8	DAB2P_HUMAN			16	3647	+			1155					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.3465G>T																																																																																					0.567	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		34	92	1	0	9.17885e-22	1	1.19121e-21	34	92				
DNMT3A	1788	broad.mit.edu	37	2	25467060	25467060	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:25467060G>A	ENST00000264709.3	-	15	2152	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000402667.1_Silent_p.L382L|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	605	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATCTGGAGCCGGGAGG	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1813-1815)ctC>ctT		DNA (cytosine-5-)-methyltransferase 3 alpha							30.0	36.0	34.0					2																	25467060		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467060G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1815C>T	2.37:g.25467060G>A						DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000402667.1_Silent_p.L382L|DNMT3A_ENST00000474887.1_5'UTR	p.L605L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2152	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		605			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1815C>T	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		15	40	0	0	0	1	0	15	40				
SLC22A16	85413	broad.mit.edu	37	6	110778142	110778142	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:110778142C>A	ENST00000368919.3	-	2	198	c.132G>T	c.(130-132)atG>atT	p.M44I	SLC22A16_ENST00000330550.4_Missense_Mutation_p.M42I|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M44I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.M44I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	44					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GGGTGACTCCCATGAACACAG	0.473																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(130-132)atG>atT		solute carrier family 22 (organic cation/carnitine transporter), member 16							65.0	68.0	67.0					6																	110778142		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778142C>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.132G>T	6.37:g.110778142C>A	ENSP00000357915:p.Met44Ile					SLC22A16_ENST00000456137.2_Missense_Mutation_p.M44I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.M42I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M44I	p.M44I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	198	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	44					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.132G>T	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	8.926	0.962349	0.18583	.	.	ENSG00000004809	ENST00000368919;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	D;T;D;T;D;T	0.81659	-1.52;0.07;-1.52;0.07;-1.52;0.07	4.63	3.75	0.43078	.	0.450508	0.25146	N	0.032792	T	0.46132	0.1377	N	0.16233	0.39	0.22266	N	0.999242	B;B	0.17667	0.013;0.023	B;B	0.15052	0.005;0.012	T	0.40664	-0.9551	10	0.51188	T	0.08	.	7.4504	0.27235	0.1656:0.7489:0.0:0.0855	.	44;42	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	I	44;42;44;1;44;1	ENSP00000357915:M44I;ENSP00000328583:M42I;ENSP00000408799:M44I;ENSP00000416310:M1I;ENSP00000402111:M44I;ENSP00000401007:M1I	ENSP00000328583:M42I	M	-	3	0	SLC22A16	110884835	0.996000	0.38824	0.031000	0.17742	0.116000	0.19942	1.172000	0.31908	0.922000	0.37019	0.462000	0.41574	ATG		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		38	52	1	0	1.07637e-12	1	1.26224e-12	38	52				
IL12RB1	3594	broad.mit.edu	37	19	18188356	18188356	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18188356C>A	ENST00000600835.2	-	6	817	c.519G>T	c.(517-519)cgG>cgT	p.R173R	IL12RB1_ENST00000322153.7_Silent_p.R173R|IL12RB1_ENST00000593993.2_Silent_p.R173R			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTGTCCGGTGCCGGAACTGCA	0.607																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(517-519)cgG>cgT		interleukin 12 receptor, beta 1							69.0	54.0	59.0					19																	18188356		2203	4300	6503	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18188356C>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.519G>T	19.37:g.18188356C>A						IL12RB1_ENST00000430026.2_Silent_p.R173R|IL12RB1_ENST00000322153.6_Silent_p.R173R|IL12RB1_ENST00000593993.1_Silent_p.R173R	p.R173R			P42701	I12R1_HUMAN			6	822	-			173			Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.519G>T	CCDS54232.1																																																																																				0.607	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			13	32	1	0	0.00010058	1	0.00010489	13	32				
ZP2	7783	broad.mit.edu	37	16	21218290	21218290	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21218290T>C	ENST00000574002.1	-	6	834	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.I118V|ZP2_ENST00000219593.4_Missense_Mutation_p.I118V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	118					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGACTCTGATGGTCATCTGG	0.488																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(352-354)Atc>Gtc		zona pellucida glycoprotein 2 (sperm receptor)							212.0	171.0	185.0					16																	21218290		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21218290T>C	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.352A>G	16.37:g.21218290T>C	ENSP00000460971:p.Ile118Val					ZP2_ENST00000574091.1_Missense_Mutation_p.I118V|ZP2_ENST00000219593.4_Missense_Mutation_p.I118V	p.I118V			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	834	-			118					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.352A>G	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	8.842	0.942416	0.18281	.	.	ENSG00000103310	ENST00000219593	T	0.28069	1.63	4.21	1.75	0.24633	.	0.281984	0.30320	N	0.009900	T	0.22282	0.0537	L	0.54323	1.7	0.29979	N	0.817864	P;B;B	0.36683	0.565;0.298;0.298	B;B;B	0.33690	0.168;0.105;0.105	T	0.13255	-1.0516	10	0.48119	T	0.1	-10.1218	3.9822	0.09499	0.0:0.1131:0.2141:0.6728	.	118;118;118	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	V	118	ENSP00000219593:I118V	ENSP00000219593:I118V	I	-	1	0	ZP2	21125791	0.956000	0.32656	0.982000	0.44146	0.358000	0.29455	0.132000	0.15891	0.759000	0.33084	0.482000	0.46254	ATC		0.488	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			53	118	0	0	0	1	0	53	118				
OR8D1	283159	broad.mit.edu	37	11	124179974	124179974	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:124179974G>T	ENST00000357821.2	-	1	759	c.689C>A	c.(688-690)tCc>tAc	p.S230Y		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCCCTCTGAGGAGCGGATGTG	0.498																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(688-690)tCc>tAc		olfactory receptor, family 8, subfamily D, member 1							67.0	57.0	60.0					11																	124179974		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179974G>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.689C>A	11.37:g.124179974G>T	ENSP00000350474:p.Ser230Tyr						p.S230Y	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	759	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.689C>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482702	0.44147	.	.	ENSG00000196341	ENST00000357821	T	0.00337	8.05	4.29	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.217249	0.23065	U	0.052325	T	0.01061	0.0035	H	0.95114	3.625	0.09310	N	1	D	0.63046	0.992	D	0.67231	0.95	T	0.17992	-1.0351	10	0.72032	D	0.01	.	10.1247	0.42643	0.1661:0.0:0.8339:0.0	.	230	Q8WZ84	OR8D1_HUMAN	Y	230	ENSP00000350474:S230Y	ENSP00000350474:S230Y	S	-	2	0	OR8D1	123685184	0.143000	0.22626	0.001000	0.08648	0.001000	0.01503	1.778000	0.38614	0.477000	0.27464	-0.300000	0.09419	TCC		0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		17	25	1	0	1.5739e-10	1	1.79874e-10	17	25				
NRIP1	8204	broad.mit.edu	37	21	16340481	16340481	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16340481C>T	ENST00000400202.1	-	3	745	c.33G>A	c.(31-33)gtG>gtA	p.V11V	NRIP1_ENST00000318948.4_Silent_p.V11V|NRIP1_ENST00000400199.1_Silent_p.V11V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	11	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AATCCTGGTGCACATCAGAGC	0.433																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(31-33)gtG>gtA		nuclear receptor interacting protein 1							34.0	32.0	33.0					21																	16340481		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16340481C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.33G>A	21.37:g.16340481C>T						NRIP1_ENST00000400199.1_Silent_p.V11V|NRIP1_ENST00000318948.4_Silent_p.V11V	p.V11V			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	745	-			11					Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.33G>A	CCDS13568.1																																																																																				0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		22	58	0	0	0	1	0	22	58				
CPNE9	151835	broad.mit.edu	37	3	9760228	9760228	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:9760228C>G	ENST00000383832.3	+	17	1373	c.1183C>G	c.(1183-1185)Cgc>Ggc	p.R395G	CPNE9_ENST00000383831.3_Missense_Mutation_p.R395G	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	395	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R395C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCCTGCGCACAGTGCA	0.567																																						ENST00000383832.3																			1	Substitution - Missense(1)	p.R395C(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1183-1185)Cgc>Ggc		copine family member IX							108.0	108.0	108.0					3																	9760228		2007	4178	6185	SO:0001583	missense	151835							g.chr3:9760228C>G		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1183C>G	3.37:g.9760228C>G	ENSP00000373343:p.Arg395Gly					CPNE9_ENST00000383831.3_Missense_Mutation_p.R395G	p.R395G	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			17	1373	+	Medulloblastoma(99;0.227)		395			VWFA.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1183C>G	CCDS2574.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.821921|3.821921	0.71028|0.71028	.|.	.|.	ENSG00000144550|ENSG00000144550	ENST00000273027|ENST00000383832;ENST00000383831	.|T;T	.|0.22743	.|1.94;1.94	5.44|5.44	5.44|5.44	0.79542|0.79542	.|von Willebrand factor, type A (2);Copine (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31606|0.31606	0.0802|0.0802	M|M	0.61703|0.61703	1.905|1.905	0.53688|0.53688	D|D	0.99997|0.99997	.|P	.|0.42357	.|0.777	.|B	.|0.44224	.|0.444	T|T	0.02893|0.02893	-1.1097|-1.1097	5|10	.|0.46703	.|T	.|0.11	.|.	18.8695|18.8695	0.92308|0.92308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|395	.|Q8IYJ1	.|CPNE9_HUMAN	W|G	126|395	.|ENSP00000373343:R395G;ENSP00000373342:R395G	.|ENSP00000373342:R395G	C|R	+|+	3|1	2|0	CPNE9|CPNE9	9735228|9735228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.589000|1.589000	0.36644|0.36644	2.533000|2.533000	0.85409|0.85409	0.579000|0.579000	0.79373|0.79373	TGC|CGC		0.567	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		33	18	0	0	0	1	0	33	18				
TSPYL5	85453	broad.mit.edu	37	8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(577-579)tCg>tTg		TSPY-like 5							82.0	87.0	86.0					8																	98289495		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289495G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.578C>T	8.37:g.98289495G>A	ENSP00000322802:p.Ser193Leu						p.S193L	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	681	-	Breast(36;2.56e-06)		193					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.578C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096158	0.20552	.	.	ENSG00000180543	ENST00000322128	T	0.29655	1.56	4.4	2.61	0.31194	.	0.672113	0.11486	N	0.559265	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.32203	0.36	B	0.29353	0.101	T	0.20042	-1.0287	10	0.21540	T	0.41	0.0036	6.8918	0.24234	0.206:0.0:0.794:0.0	.	193	Q86VY4	TSYL5_HUMAN	L	193	ENSP00000322802:S193L	ENSP00000322802:S193L	S	-	2	0	TSPYL5	98358671	0.013000	0.17824	0.001000	0.08648	0.085000	0.17905	1.917000	0.39996	0.803000	0.34113	0.563000	0.77884	TCG		0.622	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		23	60	0	0	0	1	0	23	60				
NOS1	4842	broad.mit.edu	37	12	117660597	117660597	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:117660597C>G	ENST00000338101.4	-	26	4004	c.4000G>C	c.(4000-4002)Gag>Cag	p.E1334Q	NOS1_ENST00000317775.6_Missense_Mutation_p.E1300Q|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGCAGGGTCTCTTCCCTGTAG	0.582																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3898-3900)Gag>Cag		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						125.0	126.0	125.0					12																	117660597		1941	4124	6065	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117660597C>G		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4000G>C	12.37:g.117660597C>G	ENSP00000337459:p.Glu1334Gln					NOS1_ENST00000338101.4_Missense_Mutation_p.E1334Q|NOS1_ENST00000344089.3_3'UTR	p.E1300Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	26	4583	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1300						Missense_Mutation	SNP	ENST00000338101.4	37	c.3898G>C	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198238	0.79015	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.90261	-2.64;-2.64	3.98	3.98	0.46160	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.054356	0.64402	D	0.000001	D	0.90950	0.7155	M	0.81112	2.525	0.80722	D	1	P	0.43826	0.818	B	0.40444	0.329	D	0.93059	0.6472	10	0.72032	D	0.01	-33.3369	16.6174	0.84920	0.0:1.0:0.0:0.0	.	1300	P29475	NOS1_HUMAN	Q	1195;1300;1334	ENSP00000320758:E1300Q;ENSP00000337459:E1334Q	ENSP00000320758:E1300Q	E	-	1	0	NOS1	116144980	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.809000	0.69172	2.209000	0.71365	0.655000	0.94253	GAG		0.582	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			14	98	0	0	0	1	0	14	98				
SLC8A2	6543	broad.mit.edu	37	19	47951484	47951484	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47951484C>A	ENST00000236877.6	-	4	1740	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Missense_Mutation_p.G205C|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	449	Calx-beta 1.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCAGCGTGCCCTCGCTGCGG	0.642																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1345-1347)Ggc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 2							27.0	23.0	24.0					19																	47951484		2200	4285	6485	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47951484C>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1345G>T	19.37:g.47951484C>A	ENSP00000236877:p.Gly449Cys					SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Missense_Mutation_p.G205C	p.G449C	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	4	1740	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	449			Calx-beta 1.		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.1345G>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766262	0.90020	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.40476	1.03;1.03	4.05	4.05	0.47172	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87167	0.2218	10	0.87932	D	0	.	15.5317	0.75968	0.0:1.0:0.0:0.0	.	277;449	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	277;449;205	ENSP00000236877:G449C;ENSP00000437536:G205C	ENSP00000236877:G449C	G	-	1	0	SLC8A2	52643296	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.527000	0.81931	2.259000	0.74868	0.561000	0.74099	GGC		0.642	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	42	1	0	9.70103e-10	1	1.09795e-09	9	42				
ITGA8	8516	broad.mit.edu	37	10	15655747	15655747	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:15655747C>G	ENST00000378076.3	-	15	1818	c.1465G>C	c.(1465-1467)Gta>Cta	p.V489L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	489					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGGCATCTACAGTCACAACC	0.468																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1465-1467)Gta>Cta		integrin, alpha 8							105.0	107.0	106.0					10																	15655747		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655747C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1465G>C	10.37:g.15655747C>G	ENSP00000367316:p.Val489Leu						p.V489L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1818	-			489					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1465G>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080501	0.55753	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.82526	-1.62	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.055112	0.64402	D	0.000001	D	0.87873	0.6287	M	0.64260	1.97	0.58432	D	0.999996	D;D	0.57571	0.976;0.98	P;P	0.58172	0.744;0.834	D	0.87111	0.2185	10	0.39692	T	0.17	.	16.995	0.86365	0.0:1.0:0.0:0.0	.	474;489	F5H818;P53708	.;ITA8_HUMAN	L	489;474	ENSP00000367316:V489L	ENSP00000367316:V489L	V	-	1	0	ITGA8	15695753	1.000000	0.71417	0.876000	0.34364	0.314000	0.28054	5.677000	0.68142	2.443000	0.82685	0.467000	0.42956	GTA		0.468	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		42	81	0	0	0	1	0	42	81				
OR4D9	390199	broad.mit.edu	37	11	59282974	59282974	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59282974C>A	ENST00000329328.3	+	1	589	c.589C>A	c.(589-591)Ctc>Atc	p.L197I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACTCTGGAGCTCCTGATGAT	0.473																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(589-591)Ctc>Atc		olfactory receptor, family 4, subfamily D, member 9							188.0	162.0	171.0					11																	59282974		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282974C>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.589C>A	11.37:g.59282974C>A	ENSP00000328563:p.Leu197Ile						p.L197I	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	589	+			197					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.589C>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461758	0.04508	.	.	ENSG00000172742	ENST00000329328	T	0.00137	8.68	4.44	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.421858	0.17275	N	0.180230	T	0.00109	0.0003	L	0.28556	0.865	0.09310	N	1	B	0.18610	0.029	B	0.22880	0.042	T	0.15263	-1.0443	10	0.41790	T	0.15	-7.771	6.9973	0.24789	0.4366:0.48:0.0:0.0834	.	197	Q8NGE8	OR4D9_HUMAN	I	197	ENSP00000328563:L197I	ENSP00000328563:L197I	L	+	1	0	OR4D9	59039550	0.000000	0.05858	0.053000	0.19242	0.054000	0.15201	-2.622000	0.00877	0.018000	0.15052	0.557000	0.71058	CTC		0.473	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		54	112	1	0	2.74695e-27	1	3.6794e-27	54	112				
WNK4	65266	broad.mit.edu	37	17	40939915	40939915	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:40939915T>A	ENST00000246914.5	+	8	1882	c.1861T>A	c.(1861-1863)Tcg>Acg	p.S621T	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	621					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGCCTGCCCTCGGTGAGAGG	0.627																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1861-1863)Tcg>Acg		WNK lysine deficient protein kinase 4							34.0	38.0	36.0					17																	40939915		2177	4271	6448	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939915T>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1861T>A	17.37:g.40939915T>A	ENSP00000246914:p.Ser621Thr					WNK4_ENST00000587705.1_Intron	p.S621T	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1882	+		Breast(137;0.000143)	621					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1861T>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993424	0.35131	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.71698	-0.59	5.12	2.71	0.32032	.	0.182235	0.26867	N	0.022087	T	0.52125	0.1715	L	0.40543	1.245	0.30015	N	0.81488	B;B;B	0.24963	0.115;0.018;0.018	B;B;B	0.25140	0.058;0.017;0.011	T	0.42649	-0.9439	10	0.06099	T	0.92	-4.0009	6.1924	0.20532	0.1601:0.0:0.1668:0.6731	.	621;621;621	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	T	621;393	ENSP00000246914:S621T	ENSP00000246914:S621T	S	+	1	0	WNK4	38193441	0.995000	0.38212	1.000000	0.80357	0.943000	0.58893	0.321000	0.19558	0.775000	0.33450	0.459000	0.35465	TCG		0.627	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			28	54	0	0	0	1	0	28	54				
ARHGAP22	58504	broad.mit.edu	37	10	49812818	49812818	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49812818C>A	ENST00000249601.4	-	1	320	c.24G>T	c.(22-24)caG>caT	p.Q8H	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Q8H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	8					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTCCTGGCCTGCCTGATCT	0.612																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(22-24)caG>caT		Rho GTPase activating protein 22							142.0	107.0	119.0					10																	49812818		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49812818C>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.24G>T	10.37:g.49812818C>A	ENSP00000249601:p.Gln8His					ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Q8H|ARHGAP22_ENST00000491108.1_5'UTR	p.Q8H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			1	320	-			8					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.24G>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427331	0.62733	.	.	ENSG00000128805	ENST00000249601;ENST00000417912	T;T	0.10668	2.85;2.85	4.65	1.4	0.22301	.	1.142780	0.07101	N	0.840429	T	0.08044	0.0201	L	0.34521	1.04	0.26068	N	0.981258	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.45585	-0.9251	10	0.15066	T	0.55	.	5.8536	0.18707	0.0:0.6527:0.1981:0.1492	.	8;8;8	A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;RHG22_HUMAN	H	8	ENSP00000249601:Q8H;ENSP00000412461:Q8H	ENSP00000249601:Q8H	Q	-	3	2	ARHGAP22	49482824	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.256000	0.32921	0.037000	0.15575	0.655000	0.94253	CAG		0.612	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		18	43	1	0	2.94398e-08	1	3.23174e-08	18	43				
PCDHGA3	56112	broad.mit.edu	37	5	140723758	140723758	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140723758G>T	ENST00000253812.6	+	1	158	c.158G>T	c.(157-159)gGg>gTg	p.G53V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACCTGGGGCTAGAGCCC	0.607											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(157-159)gGg>gTg									86.0	103.0	98.0					5																	140723758		2149	4276	6425	SO:0001583	missense	56112							g.chr5:140723758G>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.158G>T	5.37:g.140723758G>T	ENSP00000253812:p.Gly53Val		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.G53V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	158	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.158G>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107668	0.37242	.	.	ENSG00000254245	ENST00000253812	T	0.39592	1.07	5.65	4.78	0.61160	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.33457	U	0.004886	T	0.78585	0.4306	H	0.99130	4.44	0.54753	D	0.999988	D;P	0.65815	0.995;0.908	D;D	0.68765	0.96;0.958	D	0.87951	0.2723	10	0.87932	D	0	.	14.861	0.70382	0.07:0.0:0.93:0.0	.	53;53	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	53	ENSP00000253812:G53V	ENSP00000253812:G53V	G	+	2	0	PCDHGA3	140703942	0.960000	0.32886	1.000000	0.80357	0.067000	0.16453	1.541000	0.36126	1.530000	0.49136	0.655000	0.94253	GGG		0.607	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		70	66	1	0	5.98616e-33	1	8.18716e-33	70	66				
SCN9A	6335	broad.mit.edu	37	2	167163022	167163022	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:167163022G>A	ENST00000409435.1	-	3	464	c.465C>T	c.(463-465)gtC>gtT	p.V155V	SCN9A_ENST00000303354.6_Silent_p.V156V|SCN9A_ENST00000409672.1_Silent_p.V155V|SCN9A_ENST00000375387.4_Silent_p.V156V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	155					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACTTACTCGACATTTTTGG	0.373																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(466-468)gtC>gtT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						75.0	75.0	75.0					2																	167163022		1875	4159	6034	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167163022G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.465C>T	2.37:g.167163022G>A						SCN9A_ENST00000409672.1_Silent_p.V155V|SCN9A_ENST00000409435.1_Silent_p.V155V|SCN9A_ENST00000303354.6_Silent_p.V156V	p.V156V			Q15858	SCN9A_HUMAN			4	808	-			155					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.468C>T	CCDS46441.1																																																																																				0.373	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	8	0	0	0	1	0	6	8				
ZNF106	64397	broad.mit.edu	37	15	42743476	42743476	+	Missense_Mutation	SNP	C	C	G	rs148277728	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:42743476C>G	ENST00000263805.4	-	2	1251	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	309					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGTAAGCCTTCTGAAGGAAAT	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19407	0.0		0.0	False		,,,				2504	0.0					ENST00000263805.4																			0											c.(925-927)Gaa>Caa		zinc finger protein 106		C	GLN/GLU	6,4400	11.4+/-27.6	0,6,2197	105.0	97.0	100.0		925	4.9	0.8	15	dbSNP_134	100	0,8598		0,0,4299	no	missense	ZFP106	NM_022473.1	29	0,6,6496	GG,GC,CC		0.0,0.1362,0.0461	probably-damaging	309/1884	42743476	6,12998	2203	4299	6502	SO:0001583	missense	64397							g.chr15:42743476C>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.925G>C	15.37:g.42743476C>G	ENSP00000263805:p.Glu309Gln					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.E309Q	NM_022473.1	NP_071918.1					2	1251	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.925G>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835318	0.32421	0.001362	0.0	ENSG00000103994	ENST00000263805	T	0.61274	0.12	5.87	4.95	0.65309	.	0.070853	0.56097	D	0.000025	T	0.51363	0.1670	L	0.56769	1.78	0.80722	D	1	B;B	0.31318	0.319;0.036	B;B	0.29716	0.106;0.017	T	0.50634	-0.8805	10	0.38643	T	0.18	-18.0545	10.2048	0.43107	0.0:0.7774:0.1517:0.0709	.	92;309	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	Q	309	ENSP00000263805:E309Q	ENSP00000263805:E309Q	E	-	1	0	ZFP106	40530768	0.995000	0.38212	0.790000	0.31976	0.983000	0.72400	2.785000	0.47782	1.443000	0.47586	0.651000	0.88453	GAA		0.428	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		9	119	0	0	0	1	0	9	119				
PLD1	5337	broad.mit.edu	37	3	171452730	171452730	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:171452730C>A	ENST00000351298.4	-	5	591	c.465G>T	c.(463-465)gaG>gaT	p.E155D	PLD1_ENST00000340989.4_Missense_Mutation_p.E155D|PLD1_ENST00000356327.5_Missense_Mutation_p.E155D|PLD1_ENST00000342215.6_Missense_Mutation_p.E155D	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	155	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTCGAGGCTCCTCTCTGACGT	0.403																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(463-465)gaG>gaT		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						132.0	137.0	136.0					3																	171452730		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171452730C>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.465G>T	3.37:g.171452730C>A	ENSP00000342793:p.Glu155Asp					PLD1_ENST00000340989.4_Missense_Mutation_p.E155D|PLD1_ENST00000351298.4_Missense_Mutation_p.E155D|PLD1_ENST00000342215.6_Missense_Mutation_p.E155D	p.E155D	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		5	535	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		155			PX.			Missense_Mutation	SNP	ENST00000351298.4	37	c.465G>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523767	0.27299	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.32272	3.34;3.35;1.46;3.21	5.73	-1.84	0.07809	Phox homologous domain (5);	0.519639	0.22481	N	0.059488	T	0.18718	0.0449	L	0.29908	0.895	0.31981	N	0.60586	B;B	0.32365	0.367;0.098	B;B	0.34590	0.186;0.033	T	0.33189	-0.9878	10	0.15952	T	0.53	-26.7554	11.1651	0.48539	0.0:0.422:0.0:0.578	.	178;155	Q59EA4;Q13393	.;PLD1_HUMAN	D	155	ENSP00000348681:E155D;ENSP00000342793:E155D;ENSP00000339936:E155D;ENSP00000340326:E155D	ENSP00000340326:E155D	E	-	3	2	PLD1	172935424	1.000000	0.71417	0.960000	0.40013	0.518000	0.34316	0.411000	0.21115	-0.219000	0.10003	0.655000	0.94253	GAG		0.403	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		75	137	1	0	9.59377e-39	1	1.32453e-38	75	137				
LAMA4	3910	broad.mit.edu	37	6	112480014	112480014	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112480014T>A	ENST00000230538.7	-	14	2134	c.1737A>T	c.(1735-1737)ctA>ctT	p.L579L	LAMA4_ENST00000522006.1_Silent_p.L572L|LAMA4_ENST00000424408.2_Silent_p.L572L|LAMA4_ENST00000389463.4_Silent_p.L572L|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	579	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGAGGTTACTTAGGTTAGATA	0.343																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1735-1737)ctA>ctT		laminin, alpha 4							195.0	175.0	182.0					6																	112480014		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480014T>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1737A>T	6.37:g.112480014T>A						LAMA4_ENST00000522006.1_Silent_p.L572L|LAMA4_ENST00000389463.4_Silent_p.L572L|LAMA4_ENST00000424408.2_Silent_p.L572L|RP1-142L7.5_ENST00000585373.1_RNA	p.L579L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2134	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	579			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1737A>T	CCDS43491.1																																																																																				0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		24	87	0	0	0	1	0	24	87				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						ENST00000215832.6																			1	Substitution - Missense(1)	p.E322K(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(964-966)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1152	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			4	71	0	0	0	1	0	4	71				
PUS7L	83448	broad.mit.edu	37	12	44148735	44148735	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:44148735G>A	ENST00000416848.2	-	2	802	c.314C>T	c.(313-315)tCa>tTa	p.S105L	PUS7L_ENST00000553166.1_Missense_Mutation_p.S105L|PUS7L_ENST00000344862.5_Missense_Mutation_p.S105L|PUS7L_ENST00000551923.1_Missense_Mutation_p.S105L|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	105					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCTTTTCTGAACCAGACTG	0.343																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(313-315)tCa>tTa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							90.0	84.0	86.0					12																	44148735		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148735G>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.314C>T	12.37:g.44148735G>A	ENSP00000415899:p.Ser105Leu					PUS7L_ENST00000551923.1_Missense_Mutation_p.S105L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.S105L|PUS7L_ENST00000553166.1_Missense_Mutation_p.S105L	p.S105L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	802	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	105					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.314C>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528133	0.27299	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166;ENST00000549868	T;T;T;T;T	0.58358	1.83;1.83;1.83;1.71;0.34	4.94	2.95	0.34219	Pseudouridine synthase, catalytic domain (1);	1.062760	0.07263	N	0.867815	T	0.46328	0.1387	M	0.63428	1.95	0.33946	D	0.643873	B	0.06786	0.001	B	0.06405	0.002	T	0.48536	-0.9027	10	0.13108	T	0.6	-0.9791	6.3417	0.21327	0.1747:0.1563:0.669:0.0	.	105	Q9H0K6	PUS7L_HUMAN	L	105	ENSP00000415899:S105L;ENSP00000343081:S105L;ENSP00000447706:S105L;ENSP00000446865:S105L;ENSP00000449502:S105L	ENSP00000343081:S105L	S	-	2	0	PUS7L	42435002	0.371000	0.25056	0.952000	0.39060	0.213000	0.24496	0.326000	0.19646	1.404000	0.46819	0.491000	0.48974	TCA		0.343	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		4	118	0	0	0	1	0	4	118				
SLA	6503	broad.mit.edu	37	8	134072415	134072415	+	5'UTR	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:134072415T>C	ENST00000338087.5	-	0	810				SLA_ENST00000395352.3_Silent_p.K14K|TG_ENST00000377869.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Silent_p.K14K|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Silent_p.K37K	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTTTCTTTTTCCCTGGGG	0.582																																						ENST00000395352.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(40-42)aaA>aaG		Src-like-adaptor							105.0	109.0	108.0					8																	134072415		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072415T>C		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.-10A>G	8.37:g.134072415T>C						SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K14K|SLA_ENST00000427060.2_Silent_p.K37K|SLA_ENST00000338087.5_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron	p.K14K	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		2	390	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0					B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Silent	SNP	ENST00000338087.5	37	c.42A>G	CCDS6370.1																																																																																				0.582	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			22	63	0	0	0	1	0	22	63				
P2RY1	5028	broad.mit.edu	37	3	152554073	152554073	+	Missense_Mutation	SNP	G	G	A	rs375587095		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:152554073G>A	ENST00000305097.3	+	1	1338	c.502G>A	c.(502-504)Gcg>Acg	p.A168T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	168					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAAGAAGAATGCGATCTGTAT	0.552																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(502-504)Gcg>Acg		purinergic receptor P2Y, G-protein coupled, 1							144.0	115.0	125.0					3																	152554073		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554073G>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.502G>A	3.37:g.152554073G>A	ENSP00000304767:p.Ala168Thr						p.A168T	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1338	+			168						Missense_Mutation	SNP	ENST00000305097.3	37	c.502G>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011745	0.93346	.	.	ENSG00000169860	ENST00000305097	T	0.40756	1.02	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.059261	0.64402	D	0.000003	T	0.40546	0.1121	N	0.25144	0.715	0.80722	D	1	P	0.43750	0.816	P	0.48952	0.596	T	0.28996	-1.0026	10	0.62326	D	0.03	.	13.8831	0.63693	0.0:0.0:0.8478:0.1522	.	168	P47900	P2RY1_HUMAN	T	168	ENSP00000304767:A168T	ENSP00000304767:A168T	A	+	1	0	P2RY1	154036763	1.000000	0.71417	0.981000	0.43875	0.815000	0.46073	7.739000	0.84976	2.706000	0.92434	0.655000	0.94253	GCG		0.552	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		31	51	0	0	0	1	0	31	51				
OBFC1	79991	broad.mit.edu	37	10	105658669	105658669	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105658669G>A	ENST00000224950.3	-	6	714	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	OBFC1_ENST00000369764.1_Missense_Mutation_p.H183Y|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	183					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTGAGCTGTGAAAAGGCTGG	0.478																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(547-549)Cac>Tac		oligonucleotide/oligosaccharide-binding fold containing 1							129.0	117.0	121.0					10																	105658669		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105658669G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.547C>T	10.37:g.105658669G>A	ENSP00000224950:p.His183Tyr					OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.H183Y	p.H183Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	6	714	-		Colorectal(252;0.178)	183					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.547C>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946373	0.18356	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.43294	0.95;0.95	5.79	3.95	0.45737	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	1.171040	0.05844	N	0.619931	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	0.999999	P	0.39157	0.662	B	0.32090	0.14	T	0.07558	-1.0766	10	0.05525	T	0.97	1.5864	8.9149	0.35576	0.1709:0.0:0.8291:0.0	.	183	Q9H668	STN1_HUMAN	Y	183	ENSP00000224950:H183Y;ENSP00000358779:H183Y	ENSP00000224950:H183Y	H	-	1	0	OBFC1	105648659	0.741000	0.28217	0.375000	0.26029	0.221000	0.24807	0.787000	0.26858	0.798000	0.33994	-0.300000	0.09419	CAC		0.478	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		35	56	0	0	0	1	0	35	56				
MPHOSPH8	54737	broad.mit.edu	37	13	20221135	20221135	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:20221135C>A	ENST00000361479.5	+	3	990	c.922C>A	c.(922-924)Cat>Aat	p.H308N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.H308N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	308					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGGGCTGGAGCATGGCTTTGA	0.527																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(922-924)Cat>Aat		M-phase phosphoprotein 8							77.0	80.0	79.0					13																	20221135		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221135C>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.922C>A	13.37:g.20221135C>A	ENSP00000355388:p.His308Asn					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.H308N	p.H308N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	990	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	308					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.922C>A	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832966	0.16820	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.31769	1.49;1.48	5.66	-6.85	0.01681	.	5.074230	0.00786	U	0.001314	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	T	0.17501	-1.0367	10	0.15952	T	0.53	.	9.2567	0.37588	0.1072:0.2041:0.6009:0.0878	.	308;308;308;308	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	N	308	ENSP00000414663:H308N;ENSP00000355388:H308N	ENSP00000355388:H308N	H	+	1	0	MPHOSPH8	19119135	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.385000	0.02540	-1.279000	0.02405	0.650000	0.86243	CAT		0.527	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		28	36	1	0	1.17739e-12	1	1.37795e-12	28	36				
ENOX1	55068	broad.mit.edu	37	13	43839571	43839571	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:43839571A>T	ENST00000261488.6	-	14	2151	c.1574T>A	c.(1573-1575)tTg>tAg	p.L525*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.L525*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	525					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTCTCGACCAATTCCTTGGT	0.368																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1573-1575)tTg>tAg		ecto-NOX disulfide-thiol exchanger 1							199.0	184.0	189.0					13																	43839571		2203	4300	6503	SO:0001587	stop_gained	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43839571A>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1574T>A	13.37:g.43839571A>T	ENSP00000261488:p.Leu525*					ENOX1_ENST00000412891.1_Nonsense_Mutation_p.L525*	p.L525*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	14	2151	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	525					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Nonsense_Mutation	SNP	ENST00000261488.6	37	c.1574T>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	40	8.291705	0.98745	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	.	.	.	5.77	4.57	0.56435	.	0.420988	0.22001	N	0.066009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-10.1419	10.6324	0.45545	0.9267:0.0:0.0733:0.0	.	.	.	.	X	525	.	ENSP00000261488:L525X	L	-	2	0	ENOX1	42737571	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	4.125000	0.57931	1.006000	0.39211	0.529000	0.55759	TTG		0.368	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		67	118	0	0	0	1	0	67	118				
EPB41L5	57669	broad.mit.edu	37	2	120850833	120850833	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120850833A>T	ENST00000263713.5	+	14	1373	c.1159A>T	c.(1159-1161)Aca>Tca	p.T387S	EPB41L5_ENST00000443902.2_Missense_Mutation_p.T387S|EPB41L5_ENST00000443124.1_Missense_Mutation_p.T387S|EPB41L5_ENST00000331393.4_Missense_Mutation_p.T387S|EPB41L5_ENST00000452780.1_Missense_Mutation_p.T387S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	387					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCATGTGCTACAAAACCTGA	0.299																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1159-1161)Aca>Tca		erythrocyte membrane protein band 4.1 like 5							177.0	177.0	177.0					2																	120850833		2202	4300	6502	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120850833A>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1159A>T	2.37:g.120850833A>T	ENSP00000263713:p.Thr387Ser					EPB41L5_ENST00000331393.4_Missense_Mutation_p.T387S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T387S|EPB41L5_ENST00000443124.1_Missense_Mutation_p.T387S|EPB41L5_ENST00000452780.1_Missense_Mutation_p.T387S	p.T387S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			14	1373	+			387					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1159A>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	2.778	-0.254166	0.05829	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.81247	-1.44;-1.45;-1.47;-1.47;-1.44	4.47	-1.2	0.09554	.	1.239330	0.05730	N	0.599452	T	0.65831	0.2729	L	0.34521	1.04	0.26304	N	0.977938	B;B;B;B	0.16166	0.016;0.001;0.0;0.002	B;B;B;B	0.13407	0.009;0.007;0.004;0.003	T	0.46569	-0.9182	10	0.08837	T	0.75	.	5.2452	0.15493	0.389:0.1464:0.4646:0.0	.	387;387;387;387	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	S	387	ENSP00000263713:T387S;ENSP00000393856:T387S;ENSP00000329687:T387S;ENSP00000393722:T387S;ENSP00000390439:T387S	ENSP00000263713:T387S	T	+	1	0	EPB41L5	120567303	0.997000	0.39634	0.978000	0.43139	0.822000	0.46500	0.225000	0.17757	-0.111000	0.12001	-0.326000	0.08463	ACA		0.299	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		33	60	0	0	0	1	0	33	60				
VPS13D	55187	broad.mit.edu	37	1	12569058	12569058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12569058C>T	ENST00000358136.3	+	70	13277	c.13147C>T	c.(13147-13149)Cag>Tag	p.Q4383*	VPS13D_ENST00000471923.1_Nonsense_Mutation_p.Q39*|VPS13D_ENST00000543710.1_Nonsense_Mutation_p.Q187*|VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q4358*|VPS13D_ENST00000496628.1_3'UTR|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000543766.1_Nonsense_Mutation_p.Q381*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACCGAGAGCAGCTGGAGCT	0.542																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(13147-13149)Cag>Tag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93.0	100.0	98.0					1																	12569058		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12569058C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.13147C>T	1.37:g.12569058C>T	ENSP00000350854:p.Gln4383*					VPS13D_ENST00000471923.1_Nonsense_Mutation_p.Q39*|VPS13D_ENST00000543766.1_Nonsense_Mutation_p.Q381*|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q4358*|VPS13D_ENST00000543710.1_Nonsense_Mutation_p.Q187*	p.Q4383*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	70	13277	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4382						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.13147C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	53	21.431758	0.99940	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	.	.	.	5.42	5.42	0.78866	.	0.592256	0.19907	N	0.103396	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2151	0.93774	0.0:1.0:0.0:0.0	.	.	.	.	X	4358;4383;381;187	.	ENSP00000348666:Q4358X	Q	+	1	0	VPS13D	12491645	0.993000	0.37304	0.815000	0.32552	0.419000	0.31324	2.200000	0.42724	2.509000	0.84616	0.655000	0.94253	CAG		0.542	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		35	76	0	0	0	1	0	35	76				
CDCA7	83879	broad.mit.edu	37	2	174228114	174228114	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:174228114A>G	ENST00000347703.3	+	3	452	c.308A>G	c.(307-309)aAc>aGc	p.N103S	CDCA7_ENST00000392567.2_Missense_Mutation_p.N103S|CDCA7_ENST00000410101.3_Missense_Mutation_p.N138S|CDCA7_ENST00000306721.3_Missense_Mutation_p.N182S|CDCA7_ENST00000410019.3_Missense_Mutation_p.N61S	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	103					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACTGATTCCAACTCCGATTCA	0.443																																						ENST00000306721.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18						c.(544-546)aAc>aGc		cell division cycle associated 7							62.0	70.0	67.0					2																	174228114		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174228114A>G	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.308A>G	2.37:g.174228114A>G	ENSP00000272789:p.Asn103Ser					CDCA7_ENST00000392567.2_Missense_Mutation_p.N103S|CDCA7_ENST00000410019.3_Missense_Mutation_p.N61S|CDCA7_ENST00000410101.3_Missense_Mutation_p.N138S|CDCA7_ENST00000347703.3_Missense_Mutation_p.N103S	p.N182S	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		4	648	+			103			Arg-rich.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.545A>G	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	A	9.543	1.113885	0.20795	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.40476	1.04;1.04;1.04;1.04;1.03	5.93	-8.0	0.01126	.	0.818735	0.11638	N	0.544076	T	0.14917	0.0360	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.17107	-1.0380	10	0.18710	T	0.47	-2.1992	1.8726	0.03211	0.3981:0.0994:0.3091:0.1934	.	61;138;103;182	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	S	103;103;182;138;61	ENSP00000272789:N103S;ENSP00000376348:N103S;ENSP00000306968:N182S;ENSP00000386656:N138S;ENSP00000386833:N61S	ENSP00000306968:N182S	N	+	2	0	CDCA7	173936360	0.080000	0.21391	0.000000	0.03702	0.047000	0.14425	0.330000	0.19715	-1.522000	0.01769	-0.336000	0.08194	AAC		0.443	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		38	73	0	0	0	1	0	38	73				
TTN	7273	broad.mit.edu	37	2	179641598	179641598	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179641598C>T	ENST00000591111.1	-	28	5217	c.4993G>A	c.(4993-4995)Ggg>Agg	p.G1665R	TTN_ENST00000359218.5_Missense_Mutation_p.G1619R|TTN_ENST00000460472.2_Missense_Mutation_p.G1619R|TTN_ENST00000360870.5_Missense_Mutation_p.G1665R|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G1665R|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G1665R|TTN_ENST00000342175.6_Missense_Mutation_p.G1619R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12510					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATATGTCCCCCGTGGGATG	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4993-4995)Ggg>Agg		titin							75.0	70.0	72.0					2																	179641598		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641598C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4993G>A	2.37:g.179641598C>T	ENSP00000465570:p.Gly1665Arg					TTN_ENST00000342992.6_Missense_Mutation_p.G1665R|TTN_ENST00000359218.5_Missense_Mutation_p.G1619R|TTN_ENST00000460472.2_Missense_Mutation_p.G1619R|TTN_ENST00000360870.5_Missense_Mutation_p.G1665R|TTN_ENST00000591111.1_Missense_Mutation_p.G1665R|TTN_ENST00000342175.6_Missense_Mutation_p.G1619R	p.G1665R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5217	-			1409					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.4993G>A		.	.	.	.	.	.	.	.	.	.	C	11.36	1.615925	0.28801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65178	-0.14;0.15;0.13;0.07;0.3	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.70098	0.3185	N	0.24115	0.695	0.47341	D	0.999394	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.74633	-0.3600	9	0.87932	D	0	.	19.0298	0.92952	0.0:1.0:0.0:0.0	.	1619;1619;1619;1665;1665	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1665;1619;1619;1619;1619;1665	ENSP00000343764:G1665R;ENSP00000434586:G1619R;ENSP00000340554:G1619R;ENSP00000352154:G1619R;ENSP00000354117:G1665R	ENSP00000340554:G1619R	G	-	1	0	TTN	179349843	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	7.757000	0.85209	2.518000	0.84900	0.650000	0.86243	GGG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	79	0	0	0	1	0	37	79				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658219	72658219	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:72658219C>A	ENST00000425256.1	-	0	1692									GTF2I repeat domain containing 2 pseudogene 1																		gttccgcacccttgcagaacg	0.512																																						ENST00000425256.1																			0																																																			401375							g.chr7:72658219C>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658219C>A								NR_002164.1						0	1692	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.512	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		54	96	1	0	1.46156e-29	1	1.98963e-29	54	96				
ZKSCAN4	387032	broad.mit.edu	37	6	28214796	28214796	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28214796G>A	ENST00000377294.2	-	4	972	c.729C>T	c.(727-729)aaC>aaT	p.N243N	ZKSCAN4_ENST00000423974.2_Silent_p.N88N	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	243	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCTGTAGAGGTTCACCTGAG	0.458																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(727-729)aaC>aaT		zinc finger with KRAB and SCAN domains 4							140.0	127.0	132.0					6																	28214796		2203	4300	6503	SO:0001819	synonymous_variant	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28214796G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.729C>T	6.37:g.28214796G>A						ZKSCAN4_ENST00000423974.2_Silent_p.N88N	p.N243N	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			4	972	-			243			KRAB.		B2RE32|Q5U7L4	Silent	SNP	ENST00000377294.2	37	c.729C>T	CCDS4647.1																																																																																				0.458	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		31	38	0	0	0	1	0	31	38				
ZNF839	55778	broad.mit.edu	37	14	102800948	102800948	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:102800948C>G	ENST00000558850.1	+	4	1476	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	ZNF839_ENST00000442396.2_Missense_Mutation_p.Q492E|ZNF839_ENST00000262236.5_Missense_Mutation_p.Q376E|ZNF839_ENST00000559185.1_Missense_Mutation_p.Q376E	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	376							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCAGCTGGCTCAGGTTGTGAC	0.433																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1126-1128)Cag>Gag		zinc finger protein 839							112.0	111.0	111.0					14																	102800948		1956	4153	6109	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102800948C>G	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1126C>G	14.37:g.102800948C>G	ENSP00000453363:p.Gln376Glu					ZNF839_ENST00000559185.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000558850.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q492E	p.Q376E	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			4	1481	+			376					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.1126C>G	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360532	0.11296	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.18174	2.23;2.24	5.34	3.25	0.37280	.	0.343745	0.18066	U	0.152779	T	0.11707	0.0285	L	0.49126	1.545	0.09310	N	1	B;P;B;B	0.38597	0.264;0.639;0.264;0.264	B;B;B;B	0.30029	0.11;0.11;0.11;0.082	T	0.18023	-1.0350	10	0.35671	T	0.21	.	5.0532	0.14520	0.2259:0.5852:0.1065:0.0824	.	492;376;255;376	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	E	492;376;44	ENSP00000399863:Q492E;ENSP00000262236:Q376E	ENSP00000262236:Q376E	Q	+	1	0	ZNF839	101870701	0.145000	0.22656	0.788000	0.31933	0.114000	0.19823	1.135000	0.31454	1.411000	0.46957	0.561000	0.74099	CAG		0.433	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		7	13	0	0	0	1	0	7	13				
FBXO24	26261	broad.mit.edu	37	7	100189357	100189357	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:100189357C>T	ENST00000241071.6	+	4	712	c.390C>T	c.(388-390)ccC>ccT	p.P130P	FBXO24_ENST00000465843.1_Silent_p.P116P|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.P118P|FBXO24_ENST00000427939.2_Silent_p.P168P|FBXO24_ENST00000360609.2_Silent_p.P116P|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	130					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGTGGCCCCCTTGCTAGCCC	0.577																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(388-390)ccC>ccT		F-box protein 24							66.0	65.0	65.0					7																	100189357		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189357C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.390C>T	7.37:g.100189357C>T						FBXO24_ENST00000465843.1_Silent_p.P116P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.P168P|FBXO24_ENST00000360609.2_Silent_p.P116P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.P118P	p.P130P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	712	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		130					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.390C>T	CCDS5698.1																																																																																				0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			34	106	0	0	0	1	0	34	106				
SVOPL	136306	broad.mit.edu	37	7	138333839	138333839	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138333839G>T	ENST00000419765.3	-	7	611	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	SVOPL_ENST00000436657.1_Missense_Mutation_p.S41Y|SVOPL_ENST00000421622.1_Missense_Mutation_p.S73Y|SVOPL_ENST00000288513.5_Missense_Mutation_p.S41Y	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	193						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GATGATCACAGAGGCCAAGCC	0.542																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(217-219)tCt>tAt		SVOP-like							67.0	66.0	66.0					7																	138333839		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138333839G>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.578C>A	7.37:g.138333839G>T	ENSP00000405482:p.Ser193Tyr					SVOPL_ENST00000436657.1_Missense_Mutation_p.S41Y|SVOPL_ENST00000288513.5_Missense_Mutation_p.S41Y|SVOPL_ENST00000419765.3_Missense_Mutation_p.S193Y	p.S73Y			Q8N434	SVOPL_HUMAN			4	426	-			193						Missense_Mutation	SNP	ENST00000419765.3	37	c.218C>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571322	0.28003	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.71934	-0.61;-0.61;-0.61;0.27	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105409	0.64402	D	0.000004	T	0.61788	0.2375	N	0.03029	-0.43	0.20074	N	0.999932	P;D	0.76494	0.536;0.999	B;D	0.67548	0.191;0.952	T	0.56774	-0.7923	10	0.02654	T	1	-17.6596	17.59	0.87993	0.0:0.0:1.0:0.0	.	193;41	Q8N434;Q8N434-2	SVOPL_HUMAN;.	Y	41;73;41;193	ENSP00000288513:S41Y;ENSP00000412830:S73Y;ENSP00000417018:S41Y;ENSP00000405482:S193Y	ENSP00000288513:S41Y	S	-	2	0	SVOPL	137984379	0.998000	0.40836	0.965000	0.40720	0.778000	0.44026	4.509000	0.60448	2.434000	0.82447	0.563000	0.77884	TCT		0.542	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		20	62	1	0	1.74485e-21	1	2.2594e-21	20	62				
AKAP2	11217	broad.mit.edu	37	9	112900456	112900456	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:112900456G>A	ENST00000259318.7	+	2	2146	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	AKAP2_ENST00000374525.1_Missense_Mutation_p.E736K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E878K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E736K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E878K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E878K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E878K|AKAP2_ENST00000482335.1_3'UTR	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	647				E -> G (in Ref. 7; CAB53707). {ECO:0000305}.						breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGCCTGCTGAAGACAGGGC	0.567																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2632-2634)Gaa>Aaa									29.0	34.0	32.0					9																	112900456		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900456G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1939G>A	9.37:g.112900456G>A	ENSP00000259318:p.Glu647Lys					AKAP2_ENST00000434623.2_Missense_Mutation_p.E736K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E736K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E878K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E647K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E878K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E878K|AKAP2_ENST00000482335.1_3'UTR	p.E878K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2812	+			647					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2632G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797058	0.70567	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	1.58;1.58;1.58;1.58;1.45;1.58;0.86;1.58	5.88	5.88	0.94601	.	0.190661	0.43919	D	0.000516	T	0.58352	0.2116	L	0.59436	1.845	0.42028	D	0.99101	P;D;P;D;P;P;P;P	0.52996	0.928;0.957;0.953;0.957;0.928;0.787;0.873;0.682	P;P;P;P;P;B;B;B	0.51415	0.468;0.669;0.551;0.669;0.468;0.298;0.298;0.156	T	0.56848	-0.7911	10	0.46703	T	0.11	-19.9517	19.2068	0.93734	0.0:0.0:1.0:0.0	.	647;736;730;736;737;878;878;696	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	878;878;878;878;736;736;696;647	ENSP00000363654:E878K;ENSP00000305861:E878K;ENSP00000451476:E878K;ENSP00000421522:E878K;ENSP00000404782:E736K;ENSP00000363649:E736K;ENSP00000419268:E696K;ENSP00000259318:E647K	ENSP00000259318:E647K	E	+	1	0	PALM2-AKAP2;AKAP2	111940277	0.998000	0.40836	0.771000	0.31576	0.997000	0.91878	2.849000	0.48286	2.780000	0.95670	0.655000	0.94253	GAA		0.567	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		20	27	0	0	0	1	0	20	27				
RARG	5916	broad.mit.edu	37	12	53607384	53607384	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53607384C>A	ENST00000425354.2	-	8	1401	c.914G>T	c.(913-915)gGg>gTg	p.G305V	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G283V|RARG_ENST00000394426.1_Missense_Mutation_p.G305V|RARG_ENST00000327550.3_Missense_Mutation_p.G233V|RARG_ENST00000338561.5_Missense_Mutation_p.G294V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	305	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTGAGGGGCCCGAAGCCGGC	0.612											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(913-915)gGg>gTg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						83.0	75.0	78.0					12																	53607384		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607384C>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.914G>T	12.37:g.53607384C>A	ENSP00000388510:p.Gly305Val		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543726.1_Missense_Mutation_p.G283V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.G305V|RARG_ENST00000338561.5_Missense_Mutation_p.G294V|RARG_ENST00000327550.3_Missense_Mutation_p.G233V	p.G305V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			8	1401	-			305			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.914G>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200555	0.58126	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.21	4.32	0.51571	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98512	1.0619	10	0.87932	D	0	.	13.0195	0.58777	0.0:0.9203:0.0:0.0797	.	342;283;305;294	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	V	305;305;67;233;294;283;342	ENSP00000388510:G305V;ENSP00000377947:G305V;ENSP00000332695:G233V;ENSP00000343698:G294V;ENSP00000444335:G283V	ENSP00000332695:G233V	G	-	2	0	RARG	51893651	1.000000	0.71417	0.987000	0.45799	0.414000	0.31173	7.818000	0.86416	1.344000	0.45657	-0.373000	0.07131	GGG		0.612	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		39	43	1	0	3.09479e-21	1	3.98975e-21	39	43				
DPY19L2	283417	broad.mit.edu	37	12	63963106	63963106	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:63963106G>C	ENST00000324472.4	-	21	2207	c.2024C>G	c.(2023-2025)tCt>tGt	p.S675C	DPY19L2_ENST00000413230.2_Missense_Mutation_p.S122C	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	675					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACTATATGTAGAATAAACTAT	0.264																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2023-2025)tCt>tGt		dpy-19-like 2 (C. elegans)							40.0	46.0	44.0					12																	63963106		2192	4275	6467	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63963106G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2024C>G	12.37:g.63963106G>C	ENSP00000315988:p.Ser675Cys					DPY19L2_ENST00000413230.2_Missense_Mutation_p.S122C	p.S675C	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	21	2207	-			675					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.2024C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430065	0.43122	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.59364	0.27;0.27	3.52	3.52	0.40303	.	0.250174	0.41194	D	0.000924	T	0.73567	0.3603	M	0.81497	2.545	0.45580	D	0.998526	D	0.71674	0.998	D	0.67231	0.95	T	0.76798	-0.2826	9	.	.	.	.	12.5855	0.56414	0.0:0.0:1.0:0.0	.	675	Q6NUT2	D19L2_HUMAN	C	675;122	ENSP00000315988:S675C;ENSP00000439794:S122C	.	S	-	2	0	DPY19L2	62249373	1.000000	0.71417	0.918000	0.36340	0.589000	0.36550	5.338000	0.65947	1.775000	0.52247	0.195000	0.17529	TCT		0.264	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		92	125	0	0	0	1	0	92	125				
PCDH7	5099	broad.mit.edu	37	4	30725965	30725965	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:30725965G>T	ENST00000361762.2	+	1	3929	c.2921G>T	c.(2920-2922)aGc>aTc	p.S974I	PCDH7_ENST00000543491.1_Missense_Mutation_p.S974I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	974					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGTCAGACAGCCCAAGCATG	0.498																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2920-2922)aGc>aTc		protocadherin 7							94.0	95.0	95.0					4																	30725965		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725965G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2921G>T	4.37:g.30725965G>T	ENSP00000355243:p.Ser974Ile					PCDH7_ENST00000543491.1_Missense_Mutation_p.S974I	p.S974I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3929	+			974					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2921G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.809021|2.809021	0.50421|0.50421	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.32988	.|1.43;1.43	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Protocadherin (1);	.|.	.|.	.|.	.|.	T|T	0.36220|0.36220	0.0959|0.0959	L|L	0.61218|0.61218	1.895|1.895	0.51767|0.51767	D|D	0.999932|0.999932	.|P;P;P	.|0.38395	.|0.575;0.575;0.629	.|B;B;B	.|0.39876	.|0.312;0.312;0.309	T|T	0.31586|0.31586	-0.9938|-0.9938	5|9	.|0.87932	.|D	.|0	.|.	14.9736|14.9736	0.71251|0.71251	0.0:0.0:0.8571:0.1428|0.0:0.0:0.8571:0.1428	.|.	.|974;927;974	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|I	663|974;974;927	.|ENSP00000355243:S974I;ENSP00000441802:S974I	.|ENSP00000330302:S927I	Q|S	+|+	3|2	2|0	PCDH7|PCDH7	30335063|30335063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	7.444000|7.444000	0.80532|0.80532	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.498	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		22	31	1	0	1.55795e-14	1	1.87984e-14	22	31				
USH2A	7399	broad.mit.edu	37	1	215963415	215963415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215963415C>A	ENST00000307340.3	-	51	10554	c.10168G>T	c.(10168-10170)Gga>Tga	p.G3390*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.G3390*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3390					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)			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)		ATCATCATTCCAGTTGAAATC	0.343										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(10168-10170)Gga>Tga		Usher syndrome 2A (autosomal recessive, mild)							78.0	79.0	79.0					1																	215963415		2203	4300	6503	SO:0001587	stop_gained	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.chr1:215963415C>A	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.10168G>T	1.37:g.215963415C>A	ENSP00000305941:p.Gly3390*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.G3390*	p.G3390*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10554	-			3390					Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.10168G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	54	22.215692	0.99946	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.76	5.76	0.90799	.	0.000000	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	.	.	.	X	3390	.	ENSP00000305941:G3390X	G	-	1	0	USH2A	214030038	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.058000	0.76676	2.713000	0.92767	0.655000	0.94253	GGA		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	79	1	0	1.05317e-09	1	1.18965e-09	15	79				
BUB1	699	broad.mit.edu	37	2	111431695	111431695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:111431695C>T	ENST00000302759.6	-	3	311	c.193G>A	c.(193-195)Gac>Aac	p.D65N	BUB1_ENST00000535254.1_Missense_Mutation_p.D45N|BUB1_ENST00000409311.1_Missense_Mutation_p.D65N	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	65	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATCTTGGGTCATTGTGGTAT	0.259																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(133-135)Gac>Aac		BUB1 mitotic checkpoint serine/threonine kinase							58.0	61.0	60.0					2																	111431695		2181	4284	6465	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111431695C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.193G>A	2.37:g.111431695C>T	ENSP00000302530:p.Asp65Asn					BUB1_ENST00000302759.6_Missense_Mutation_p.D65N|BUB1_ENST00000409311.1_Missense_Mutation_p.D65N	p.D45N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	2	200	-		Ovarian(717;0.0822)	65			BUB1 N-terminal.|Necessary for kinetochore localization.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.133G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773676	0.90108	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.57	5.57	0.84162	Mad3/BUB1 homology region 1 (3);	0.050345	0.85682	D	0.000000	D	0.94693	0.8288	M	0.90483	3.12	0.51012	D	0.999904	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95158	0.8279	10	0.62326	D	0.03	-25.274	17.0493	0.86514	0.0:1.0:0.0:0.0	.	45;65;65	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	N	45;65;65;65;56;56;56	ENSP00000441013:D45N;ENSP00000386701:D65N;ENSP00000302530:D65N;ENSP00000402883:D56N;ENSP00000409713:D56N;ENSP00000392219:D56N	ENSP00000302530:D65N	D	-	1	0	BUB1	111148166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.318000	0.65829	2.637000	0.89404	0.555000	0.69702	GAC		0.259	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		18	63	0	0	0	1	0	18	63				
BCO2	83875	broad.mit.edu	37	11	112087006	112087006	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:112087006G>C	ENST00000357685.5	+	11	1714	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	BCO2_ENST00000526088.1_Missense_Mutation_p.E487Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E493Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E454Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E493Q|BCO2_ENST00000393032.2_Missense_Mutation_p.E493Q|BCO2_ENST00000532593.1_Missense_Mutation_p.E422Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	527					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGGAACCAATGAAGAAGATGG	0.418																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(1579-1581)Gaa>Caa		beta-carotene oxygenase 2							167.0	161.0	163.0					11																	112087006		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112087006G>C	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1579G>C	11.37:g.112087006G>C	ENSP00000350314:p.Glu527Gln					BCO2_ENST00000532593.1_Missense_Mutation_p.E422Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E493Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E493Q|BCO2_ENST00000393032.2_Missense_Mutation_p.E493Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E454Q|BCO2_ENST00000526088.1_Missense_Mutation_p.E487Q	p.E527Q			Q9BYV7	BCDO2_HUMAN			11	1714	+			527					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.1579G>C	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.734226|2.734226	0.48939|0.48939	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000525175	D;D;D;D;D;D;D|.	0.95171|.	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63|.	5.58|5.58	3.72|3.72	0.42706|0.42706	.|.	0.245815|.	0.46758|.	D|.	0.000269|.	T|.	0.60869|.	0.2302|.	M|M	0.70275|0.70275	2.135|2.135	0.33422|0.33422	D|D	0.580058|0.580058	B;P;B|.	0.50528|.	0.45;0.936;0.277|.	B;P;B|.	0.55785|.	0.301;0.784;0.292|.	T|.	0.69124|.	-0.5228|.	10|.	0.56958|.	D|.	0.05|.	-4.6577|-4.6577	10.8421|10.8421	0.46722|0.46722	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	498;454;527|.	C9JEZ9;E9PBI8;Q9BYV7|.	.;.;BCDO2_HUMAN|.	Q|S	527;493;454;493;487;422;493|61	ENSP00000350314:E527Q;ENSP00000376752:E493Q;ENSP00000354338:E454Q;ENSP00000414843:E493Q;ENSP00000436615:E487Q;ENSP00000431802:E422Q;ENSP00000437053:E493Q|.	ENSP00000350314:E527Q|.	E|X	+|+	1|2	0|2	BCO2|BCO2	111592216|111592216	1.000000|1.000000	0.71417|0.71417	0.165000|0.165000	0.22776|0.22776	0.949000|0.949000	0.60115|0.60115	5.624000|5.624000	0.67764|0.67764	0.734000|0.734000	0.32515|0.32515	0.650000|0.650000	0.86243|0.86243	GAA|TGA		0.418	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		4	93	0	0	0	1	0	4	93				
ITIH2	3698	broad.mit.edu	37	10	7765479	7765479	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:7765479C>T	ENST00000358415.4	+	9	1099	c.933C>T	c.(931-933)atC>atT	p.I311I	ITIH2_ENST00000379587.4_Silent_p.I300I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	311	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			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						CCAAAAACATCCTCTTTGTCA	0.418																																						ENST00000358415.4																			0				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						c.(931-933)atC>atT		inter-alpha-trypsin inhibitor heavy chain 2							143.0	124.0	130.0					10																	7765479		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7765479C>T	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.933C>T	10.37:g.7765479C>T						ITIH2_ENST00000379587.4_Silent_p.I300I	p.I311I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			9	1099	+			311			VWFA.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.933C>T	CCDS31141.1																																																																																				0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		49	89	0	0	0	1	0	49	89				
OBSCN	84033	broad.mit.edu	37	1	228556579	228556579	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:228556579G>A	ENST00000422127.1	+	89	19968	c.19924G>A	c.(19924-19926)Gaa>Aaa	p.E6642K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E7599K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6642	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGAGCGAAGCCTCCGA	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(22795-22797)Gaa>Aaa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							76.0	80.0	78.0					1																	228556579		2014	4174	6188	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228556579G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19924G>A	1.37:g.228556579G>A	ENSP00000409493:p.Glu6642Lys					OBSCN_ENST00000422127.1_Missense_Mutation_p.E6642K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K	p.E7599K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			100	22869	+		Prostate(94;0.0405)	6642			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22795G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.508445|3.508445	0.64410|0.64410	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.64260|.	-0.09;-0.09|.	4.64|4.64	0.256|0.256	0.15567|0.15567	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.10664|0.10664	0.02|0.02	0.26062|0.26062	N|N	0.981334|0.981334	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.27020|0.27020	-1.0086|-1.0086	9|5	0.23891|.	T|.	0.37|.	.|.	4.4444|4.4444	0.11589|0.11589	0.3838:0.1723:0.4439:0.0|0.3838:0.1723:0.4439:0.0	.|.	6642|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6642;4276|1258	ENSP00000409493:E6642K;ENSP00000355668:E4276K|.	ENSP00000355668:E4276K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226623202|226623202	0.841000|0.841000	0.29509|0.29509	0.997000|0.997000	0.53966|0.53966	0.771000|0.771000	0.43674|0.43674	2.298000|2.298000	0.43602|0.43602	0.194000|0.194000	0.20326|0.20326	0.462000|0.462000	0.41574|0.41574	GAA|CGA		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	104	0	0	0	1	0	6	104				
ISL2	64843	broad.mit.edu	37	15	76634116	76634116	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76634116C>A	ENST00000290759.4	+	6	1180	c.1020C>A	c.(1018-1020)tcC>tcA	p.S340S	RP11-685G9.4_ENST00000602530.1_lincRNA|RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	340					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACGTGACCTCCCTGTCCTCGC	0.687																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(1018-1020)tcC>tcA		ISL LIM homeobox 2							65.0	67.0	66.0					15																	76634116		2197	4294	6491	SO:0001819	synonymous_variant	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76634116C>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.1020C>A	15.37:g.76634116C>A						RP11-685G9.2_ENST00000559539.1_RNA	p.S340S	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			6	1180	+			340					B3KM37	Silent	SNP	ENST00000290759.4	37	c.1020C>A	CCDS10290.1																																																																																				0.687	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			22	54	1	0	3.5997e-14	1	4.31668e-14	22	54				
TAF1C	9013	broad.mit.edu	37	16	84218573	84218573	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:84218573G>A	ENST00000567759.1	-	2	204	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000378541.4_Missense_Mutation_p.R8C|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.R8C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	8					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AATGCAGGGCGGAGGGAGCTG	0.612																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(22-24)Cgc>Tgc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							40.0	34.0	36.0					16																	84218573		2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84218573G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.22C>T	16.37:g.84218573G>A	ENSP00000455265:p.Arg8Cys					TAF1C_ENST00000378541.4_Missense_Mutation_p.R8C|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.R8C|TAF1C_ENST00000570117.1_Intron	p.R8C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			2	204	-			8					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.22C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142775	0.37825	.	.	ENSG00000103168	ENST00000378541;ENST00000537450	T	0.49720	0.77	4.01	3.05	0.35203	.	1.131680	0.06720	N	0.774752	T	0.55305	0.1912	L	0.51422	1.61	0.34913	D	0.747636	D;D;D	0.71674	0.996;0.996;0.998	P;P;P	0.56700	0.653;0.648;0.804	T	0.61158	-0.7119	10	0.62326	D	0.03	-5.9922	6.8744	0.24139	0.1236:0.0:0.8764:0.0	.	8;8;8	F5H7W6;Q15572-6;Q15572	.;.;TAF1C_HUMAN	C	8	ENSP00000367802:R8C	ENSP00000367802:R8C	R	-	1	0	TAF1C	82776074	0.694000	0.27738	0.678000	0.29963	0.044000	0.14063	1.252000	0.32874	2.232000	0.73038	0.555000	0.69702	CGC		0.612	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		12	18	0	0	0	1	0	12	18				
LAMC2	3918	broad.mit.edu	37	1	183208591	183208591	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:183208591G>C	ENST00000264144.4	+	20	3027	c.2962G>C	c.(2962-2964)Gac>Cac	p.D988H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	988	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.D988H(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCCAGTGACAAGACCCA	0.537																																						ENST00000264144.4																			1	Substitution - Missense(1)	p.D988H(1)	lung(1)	breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2962-2964)Gac>Cac		laminin, gamma 2							93.0	108.0	103.0					1																	183208591		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208591G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2962G>C	1.37:g.183208591G>C	ENSP00000264144:p.Asp988His					LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			20	3027	+			988			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2962G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667358	0.67814	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.77750	2.41;-1.12	5.36	4.39	0.52855	.	0.388763	0.26387	N	0.024664	D	0.83695	0.5310	M	0.71581	2.175	0.43868	D	0.996476	D;D;D	0.63046	0.987;0.987;0.992	P;P;P	0.62813	0.809;0.809;0.907	D	0.83708	0.0186	10	0.52906	T	0.07	.	9.093	0.36623	0.0769:0.1486:0.7745:0.0	.	988;988;988	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	988	ENSP00000432063:D988H;ENSP00000264144:D988H	ENSP00000264144:D988H	D	+	1	0	LAMC2	181475214	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.031000	0.49728	2.509000	0.84616	0.491000	0.48974	GAC		0.537	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		40	149	0	0	0	1	0	40	149				
GCK	2645	broad.mit.edu	37	7	44192917	44192917	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:44192917G>A	ENST00000403799.3	-	2	660	c.191C>T	c.(190-192)tCc>tTc	p.S64F	GCK_ENST00000437084.1_Missense_Mutation_p.S64F|GCK_ENST00000395796.3_Missense_Mutation_p.S63F|GCK_ENST00000345378.2_Missense_Mutation_p.S65F|GCK_ENST00000476008.1_5'Flank	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	64	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCTGGGGTGGAGCGCACGTA	0.607																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37	GRCh37	CM082786	GCK	M		c.(190-192)tCc>tTc		glucokinase (hexokinase 4)							155.0	131.0	139.0					7																	44192917		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44192917G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.191C>T	7.37:g.44192917G>A	ENSP00000384247:p.Ser64Phe					GCK_ENST00000437084.1_Missense_Mutation_p.S64F|GCK_ENST00000345378.2_Missense_Mutation_p.S65F|GCK_ENST00000395796.3_Missense_Mutation_p.S63F	p.S64F	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			2	660	-			64					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.191C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947645	0.92593	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	5.08	5.08	0.68730	Hexokinase, N-terminal (1);	0.104714	0.64402	D	0.000002	D	0.99393	0.9786	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.959;0.997	D	0.98874	1.0767	10	0.72032	D	0.01	-35.0989	18.4495	0.90697	0.0:0.0:1.0:0.0	.	64;65;63	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	F	64;63;65;64	ENSP00000384247:S64F;ENSP00000379142:S63F;ENSP00000223366:S65F;ENSP00000402840:S64F	ENSP00000223366:S65F	S	-	2	0	GCK	44159442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.779000	0.99018	2.517000	0.84864	0.655000	0.94253	TCC		0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			29	67	0	0	0	1	0	29	67				
RPN2	6185	broad.mit.edu	37	20	35827457	35827457	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:35827457C>G	ENST00000237530.6	+	4	619	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	103					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.S103C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCTTAGATCTCTATTTCAAAT	0.468																																						ENST00000237530.6																			2	Substitution - Missense(2)	p.S103C(2)	lung(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(307-309)tCt>tGt		ribophorin II							122.0	113.0	116.0					20																	35827457		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35827457C>G	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.308C>G	20.37:g.35827457C>G	ENSP00000237530:p.Ser103Cys					RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	p.S103C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			4	619	+		Myeloproliferative disorder(115;0.00878)	103					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.308C>G	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265411	0.80358	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T	0.46063	0.88;0.88;0.88	5.31	5.31	0.75309	.	0.123818	0.56097	D	0.000031	T	0.49423	0.1556	L	0.34521	1.04	0.39684	D	0.97094	P;P;D	0.52996	0.95;0.915;0.957	P;P;P	0.57101	0.813;0.729;0.813	T	0.50482	-0.8823	10	0.59425	D	0.04	-15.5083	16.5206	0.84315	0.0:1.0:0.0:0.0	.	71;103;103	Q5JYR6;P04844;B2RE46	.;RPN2_HUMAN;.	C	103;71;103;103	ENSP00000237530:S103C;ENSP00000362724:S71C;ENSP00000362735:S103C	ENSP00000237530:S103C	S	+	2	0	RPN2	35260871	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.174000	0.58256	2.763000	0.94921	0.563000	0.77884	TCT		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		4	84	0	0	0	1	0	4	84				
ZIC1	7545	broad.mit.edu	37	3	147127967	147127967	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:147127967A>T	ENST00000282928.4	+	1	797	c.68A>T	c.(67-69)cAc>cTc	p.H23L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	23					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCCCGCCACCACTCCGCGGGC	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(67-69)cAc>cTc		Zic family member 1							23.0	25.0	24.0					3																	147127967		2183	4273	6456	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147127967A>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.68A>T	3.37:g.147127967A>T	ENSP00000282928:p.His23Leu						p.H23L	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	797	+			23					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.68A>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903417	0.52333	.	.	ENSG00000152977	ENST00000282928	T	0.12255	2.7	3.36	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.74647	2.275	0.80722	D	1	P	0.48230	0.907	B	0.38500	0.275	T	0.10064	-1.0646	10	0.87932	D	0	.	11.936	0.52874	1.0:0.0:0.0:0.0	.	23	Q15915	ZIC1_HUMAN	L	23	ENSP00000282928:H23L	ENSP00000282928:H23L	H	+	2	0	ZIC1	148610657	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.797000	0.75150	1.400000	0.46741	0.363000	0.22086	CAC		0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		17	20	0	0	0	1	0	17	20				
CNTNAP2	26047	broad.mit.edu	37	7	147914551	147914551	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:147914551C>T	ENST00000361727.3	+	19	3698	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P120L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCAAGGCGCCCTGCATTCTC	0.572										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3181-3183)cCc>cTc		contactin associated protein-like 2							112.0	101.0	105.0					7																	147914551		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914551C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3182C>T	7.37:g.147914551C>T	ENSP00000354778:p.Pro1061Leu	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P120L	p.P1061L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3698	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1061			Laminin G-like 4.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3182C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815662	0.90790	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79554	-1.28;-1.28	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.92662	0.6142	10	0.56958	D	0.05	.	17.4392	0.87561	0.0:1.0:0.0:0.0	.	1061	Q9UHC6	CNTP2_HUMAN	L	1061;120	ENSP00000354778:P1061L;ENSP00000440732:P120L	ENSP00000354778:P1061L	P	+	2	0	CNTNAP2	147545484	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.985000	0.63845	2.438000	0.82558	0.561000	0.74099	CCC		0.572	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			41	139	0	0	0	1	0	41	139				
LMOD3	56203	broad.mit.edu	37	3	69168663	69168663	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69168663G>C	ENST00000420581.2	-	2	1022	c.843C>G	c.(841-843)aaC>aaG	p.N281K	LMOD3_ENST00000475434.1_Missense_Mutation_p.N281K|LMOD3_ENST00000489031.1_Missense_Mutation_p.N281K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	281						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGATGTGCTTGTTTTTCTTCA	0.388																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(841-843)aaC>aaG		leiomodin 3 (fetal)							192.0	175.0	180.0					3																	69168663		1957	4149	6106	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168663G>C	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.843C>G	3.37:g.69168663G>C	ENSP00000414670:p.Asn281Lys					LMOD3_ENST00000489031.1_Missense_Mutation_p.N281K|LMOD3_ENST00000475434.1_Missense_Mutation_p.N281K	p.N281K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1022	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	281					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.843C>G	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456948	0.63401	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.22336	1.96;1.96;1.96	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.91920	3.255	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.61187	-0.7113	10	0.87932	D	0	-36.3031	11.1665	0.48545	0.1583:0.0:0.8417:0.0	.	281	Q0VAK6	LMOD3_HUMAN	K	281	ENSP00000414670:N281K;ENSP00000417210:N281K;ENSP00000418645:N281K	ENSP00000414670:N281K	N	-	3	2	LMOD3	69251353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.427000	0.44740	1.413000	0.46997	0.591000	0.81541	AAC		0.388	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		63	72	0	0	0	1	0	63	72				
MASP1	5648	broad.mit.edu	37	3	186943239	186943239	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:186943239G>A	ENST00000337774.5	-	13	2003	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	538	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTGGAGAGTGGTGTGTTTGA	0.542																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1612-1614)acC>acT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							261.0	239.0	246.0					3																	186943239		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943239G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1614C>T	3.37:g.186943239G>A							p.T538T	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	2003	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		538			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1614C>T	CCDS33907.1																																																																																				0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		29	132	0	0	0	1	0	29	132				
SEMA4B	10509	broad.mit.edu	37	15	90766792	90766792	+	Splice_Site	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:90766792G>T	ENST00000411539.2	+	8	1123	c.863G>T	c.(862-864)gGc>gTc	p.G288V	SEMA4B_ENST00000379122.3_Splice_Site_p.G283V|SEMA4B_ENST00000332496.6_Splice_Site_p.G288V	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCCTCCAGGGCGATGAGGGT	0.647																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.e8-1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							20.0	21.0	20.0					15																	90766792		2110	4221	6331	SO:0001630	splice_region_variant	10509							g.chr15:90766792G>T	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.862-1G>T	15.37:g.90766792G>T						SEMA4B_ENST00000332496.6_Splice_Site_p.G288_splice|SEMA4B_ENST00000379122.3_Splice_Site_p.G283_splice	p.G288_splice	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		8	1123	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Splice_Site	SNP	ENST00000411539.2	37	c.861_splice	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384730	0.42308	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32988	1.43;1.43;1.43	5.12	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.055337	0.64402	D	0.000001	T	0.55337	0.1914	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.61589	-0.7032	10	0.72032	D	0.01	.	14.8642	0.70401	0.0:0.1446:0.8554:0.0	.	288;283	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	V	288;283;288	ENSP00000332204:G288V;ENSP00000368417:G283V;ENSP00000394720:G288V	ENSP00000332204:G288V	G	+	2	0	SEMA4B	88567796	1.000000	0.71417	0.788000	0.31933	0.097000	0.18754	4.830000	0.62745	1.262000	0.44165	0.591000	0.81541	GGC		0.647	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925	Missense_Mutation	4	17	1	0	0.000602214	1	0.00061809	4	17				
OR6X1	390260	broad.mit.edu	37	11	123624753	123624753	+	Silent	SNP	C	C	T	rs533040898		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123624753C>T	ENST00000327930.2	-	1	500	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGCAGCATCGTCTGACAAA	0.527																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(472-474)acG>acA		olfactory receptor, family 6, subfamily X, member 1							101.0	102.0	102.0					11																	123624753		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624753C>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.474G>A	11.37:g.123624753C>T							p.T158T	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	500	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	158					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.474G>A	CCDS31695.1																																																																																				0.527	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		21	52	0	0	0	1	0	21	52				
SGCZ	137868	broad.mit.edu	37	8	14095174	14095174	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:14095174G>T	ENST00000382080.1	-	4	1066	c.351C>A	c.(349-351)gtC>gtA	p.V117V	SGCZ_ENST00000421524.2_Silent_p.V70V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	104					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGACTGTAAGACCAGCGGAC	0.368																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(349-351)gtC>gtA		sarcoglycan, zeta							271.0	259.0	263.0					8																	14095174		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14095174G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.351C>A	8.37:g.14095174G>T						SGCZ_ENST00000421524.2_Silent_p.V70V	p.V117V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	4	1066	-			104					Q6REU0	Silent	SNP	ENST00000382080.1	37	c.351C>A	CCDS5992.2																																																																																				0.368	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		86	258	1	0	9.54843e-35	1	1.30899e-34	86	258				
SAMD9L	219285	broad.mit.edu	37	7	92763399	92763399	+	Missense_Mutation	SNP	C	C	A	rs142436298		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:92763399C>A	ENST00000318238.4	-	5	3102	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	629					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTGATGACCGAGTCACCGA	0.388																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1885-1887)cGg>cTg		sterile alpha motif domain containing 9-like							98.0	99.0	99.0					7																	92763399		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763399C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1886G>T	7.37:g.92763399C>A	ENSP00000326247:p.Arg629Leu					SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L	p.R629L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3102	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		629					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1886G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581377	0.28180	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24151	1.87;1.87;1.87	4.86	-0.399	0.12415	.	0.522993	0.17724	N	0.164131	T	0.14527	0.0351	N	0.24115	0.695	0.09310	N	1	B	0.30973	0.302	B	0.25987	0.065	T	0.15752	-1.0426	10	0.59425	D	0.04	-0.237	9.4562	0.38756	0.0:0.2932:0.0:0.7068	.	629	Q8IVG5	SAM9L_HUMAN	L	629	ENSP00000326247:R629L;ENSP00000405760:R629L;ENSP00000408796:R629L	ENSP00000326247:R629L	R	-	2	0	SAMD9L	92601335	0.023000	0.18921	0.645000	0.29479	0.935000	0.57460	0.251000	0.18257	0.030000	0.15379	-0.600000	0.04104	CGG		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		52	175	1	0	1.32667e-27	1	1.78932e-27	52	175				
CRH	1392	broad.mit.edu	37	8	67089290	67089290	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:67089290G>C	ENST00000276571.3	-	2	869	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	141					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGTGGCCGCCGAGGGCATTCC	0.672											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000276571.3																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(421-423)ctC>ctG		corticotropin releasing hormone	Corticotropin(DB01285)						25.0	20.0	22.0					8																	67089290		2203	4299	6502	SO:0001819	synonymous_variant	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089290G>C		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.423C>G	8.37:g.67089290G>C			OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.L141L	NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	869	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	141					B3KQS4	Silent	SNP	ENST00000276571.3	37	c.423C>G	CCDS6188.1																																																																																				0.672	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		12	23	0	0	0	1	0	12	23				
MC5R	4161	broad.mit.edu	37	18	13826560	13826560	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:13826560C>A	ENST00000324750.3	+	1	1018	c.796C>A	c.(796-798)Cag>Aag	p.Q266K	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	266					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCTTGCCCTCAGAACCTCTA	0.517																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(796-798)Cag>Aag		melanocortin 5 receptor							241.0	192.0	208.0					18																	13826560		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826560C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.796C>A	18.37:g.13826560C>A	ENSP00000318077:p.Gln266Lys						p.Q266K	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	1018	+			266					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.796C>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	2.383	-0.341708	0.05243	.	.	ENSG00000176136	ENST00000324750	T	0.71579	-0.58	4.88	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.115202	0.64402	D	0.000014	T	0.59500	0.2198	L	0.39085	1.19	0.34813	D	0.737954	B	0.09022	0.002	B	0.11329	0.006	T	0.58730	-0.7585	10	0.40728	T	0.16	.	12.9404	0.58340	0.4234:0.5766:0.0:0.0	.	266	P33032	MC5R_HUMAN	K	266	ENSP00000318077:Q266K	ENSP00000318077:Q266K	Q	+	1	0	MC5R	13816560	0.251000	0.23961	0.857000	0.33713	0.852000	0.48524	0.942000	0.29017	0.080000	0.16959	0.305000	0.20034	CAG		0.517	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		49	88	1	0	3.39706e-21	1	4.36978e-21	49	88				
ZIM3	114026	broad.mit.edu	37	19	57646877	57646877	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57646877C>T	ENST00000269834.1	-	5	1213	c.828G>A	c.(826-828)aaG>aaA	p.K276K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGGATTTCTTGGCATTAT	0.358																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(826-828)aaG>aaA		zinc finger, imprinted 3							110.0	109.0	110.0					19																	57646877		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646877C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.828G>A	19.37:g.57646877C>T							p.K276K	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1213	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	276					Q14CA6	Silent	SNP	ENST00000269834.1	37	c.828G>A	CCDS33125.1																																																																																				0.358	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			52	114	0	0	0	1	0	52	114				
PCDH10	57575	broad.mit.edu	37	4	134072606	134072606	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134072606C>A	ENST00000264360.5	+	1	2137	c.1311C>A	c.(1309-1311)gaC>gaA	p.D437E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCTCGGGACCGGGGCGAGC	0.597																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1309-1311)gaC>gaA		protocadherin 10							89.0	102.0	97.0					4																	134072606		2202	4300	6502	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072606C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1311C>A	4.37:g.134072606C>A	ENSP00000264360:p.Asp437Glu						p.D437E	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2137	+			437			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1311C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388136	0.61956	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.67865	-0.29	4.81	2.91	0.33838	Cadherin (5);Cadherin-like (1);	0.000000	0.47455	D	0.000228	D	0.83709	0.5313	M	0.92317	3.295	0.50813	D	0.999891	P;D	0.69078	0.951;0.997	P;D	0.78314	0.652;0.991	D	0.86666	0.1907	10	0.87932	D	0	.	11.3666	0.49675	0.0:0.8252:0.0:0.1748	.	437;437	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	437	ENSP00000264360:D437E	ENSP00000264360:D437E	D	+	3	2	PCDH10	134292056	0.745000	0.28261	0.998000	0.56505	0.968000	0.65278	1.463000	0.35277	1.241000	0.43820	0.655000	0.94253	GAC		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	114	1	0	5.35267e-07	1	5.81033e-07	12	114				
ZNF880	400713	broad.mit.edu	37	19	52887621	52887621	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52887621C>T	ENST00000422689.2	+	4	803	c.788C>T	c.(787-789)aCt>aTt	p.T263I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	263					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGAATACATACTGGAGAGAAA	0.408																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(787-789)aCt>aTt		zinc finger protein 880							44.0	41.0	42.0					19																	52887621		1568	3582	5150	SO:0001583	missense	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887621C>T	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.788C>T	19.37:g.52887621C>T	ENSP00000406318:p.Thr263Ile						p.T263I	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	803	+			263					B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	c.788C>T	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155501	0.38021	.	.	ENSG00000221923	ENST00000422689	T	0.25749	1.78	2.03	2.03	0.26663	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36193	0.0958	L	0.49699	1.58	0.22017	N	0.999414	D	0.67145	0.996	D	0.62955	0.909	T	0.07712	-1.0758	8	.	.	.	.	5.9325	0.19146	0.0:0.8339:0.0:0.1661	.	263	Q6PDB4	ZN880_HUMAN	I	263	ENSP00000406318:T263I	.	T	+	2	0	ZNF880	57579433	0.017000	0.18338	0.798000	0.32154	0.684000	0.39900	1.086000	0.30853	1.110000	0.41699	0.551000	0.68910	ACT		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		11	39	0	0	0	1	0	11	39				
FMN2	56776	broad.mit.edu	37	1	240255867	240255867	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255867G>A	ENST00000319653.9	+	1	688	c.458G>A	c.(457-459)aGg>aAg	p.R153K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGAGGCTAGGGTCGGGGGC	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(457-459)aGg>aAg		formin 2							21.0	26.0	25.0					1																	240255867		2203	4298	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255867G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.458G>A	1.37:g.240255867G>A	ENSP00000318884:p.Arg153Lys						p.R153K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	688	+	Ovarian(103;0.127)	all_cancers(173;0.013)	153					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.458G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	4.695	0.129210	0.08981	.	.	ENSG00000155816	ENST00000319653	T	0.30448	1.53	3.93	0.885	0.19188	.	0.644905	0.13586	N	0.377011	T	0.16471	0.0396	L	0.40543	1.245	0.09310	N	0.999992	B	0.18741	0.03	B	0.10450	0.005	T	0.34229	-0.9837	10	0.02654	T	1	.	3.4444	0.07476	0.2574:0.2542:0.4883:0.0	.	153	Q9NZ56	FMN2_HUMAN	K	153	ENSP00000318884:R153K	ENSP00000318884:R153K	R	+	2	0	FMN2	238322490	0.002000	0.14202	0.007000	0.13788	0.085000	0.17905	0.478000	0.22212	0.367000	0.24454	0.313000	0.20887	AGG		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	15	0	0	0	1	0	7	15				
PGM2L1	283209	broad.mit.edu	37	11	74056633	74056633	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:74056633C>G	ENST00000298198.4	-	9	1410	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	367					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCAGCAATCAAACATCCAC	0.373																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1099-1101)Gat>Cat		phosphoglucomutase 2-like 1							124.0	114.0	118.0					11																	74056633		2200	4293	6493	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74056633C>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1099G>C	11.37:g.74056633C>G	ENSP00000298198:p.Asp367His						p.D367H	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			9	1410	-	Breast(11;3.32e-06)		367					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1099G>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.794121	0.16327	.	.	ENSG00000165434	ENST00000298198	T	0.43294	0.95	5.1	5.1	0.69264	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.323514	0.33092	N	0.005284	T	0.26122	0.0637	N	0.17312	0.475	0.31343	N	0.683458	B	0.02656	0.0	B	0.04013	0.001	T	0.13791	-1.0496	10	0.37606	T	0.19	-14.6997	9.9281	0.41505	0.0:0.9068:0.0:0.0932	.	367	Q6PCE3	PGM2L_HUMAN	H	367	ENSP00000298198:D367H	ENSP00000298198:D367H	D	-	1	0	PGM2L1	73734281	0.037000	0.19845	1.000000	0.80357	0.997000	0.91878	0.634000	0.24614	2.510000	0.84645	0.650000	0.86243	GAT		0.373	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		5	64	0	0	0	1	0	5	64				
OR4M1	441670	broad.mit.edu	37	14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20249338C>T	ENST00000315957.4	+	1	938	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(856-858)cCc>cTc		olfactory receptor, family 4, subfamily M, member 1							103.0	103.0	103.0					14																	20249338		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249338C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.857C>T	14.37:g.20249338C>T	ENSP00000319654:p.Pro286Leu						p.P286L	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	938	+	all_cancers(95;0.00108)		286					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.857C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.146730	0.57151	.	.	ENSG00000176299	ENST00000315957	T	0.63417	-0.04	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	D	0.83101	0.5181	M	0.92077	3.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87377	0.2354	10	0.87932	D	0	-17.4385	14.9222	0.70847	0.0:1.0:0.0:0.0	.	286	Q8NGD0	OR4M1_HUMAN	L	286	ENSP00000319654:P286L	ENSP00000319654:P286L	P	+	2	0	OR4M1	19319178	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.025000	0.76449	2.468000	0.83385	0.506000	0.49869	CCC		0.363	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			28	85	0	0	0	1	0	28	85				
BCLAF1	9774	broad.mit.edu	37	6	136597220	136597220	+	Missense_Mutation	SNP	T	T	G	rs558705184		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:136597220T>G	ENST00000531224.1	-	5	1695	c.1443A>C	c.(1441-1443)gaA>gaC	p.E481D	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E479D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E481D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E479D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E479D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	481					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATTTTTGTCTTCTTCTTTGT	0.358													T|||	1	0.000199681	0.0	0.0	5008	,	,		19803	0.0		0.0	False		,,,				2504	0.001				Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1441-1443)gaA>gaC		BCL2-associated transcription factor 1							146.0	153.0	151.0					6																	136597220		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597220T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1443A>C	6.37:g.136597220T>G	ENSP00000435210:p.Glu481Asp					BCLAF1_ENST00000527536.1_Missense_Mutation_p.E481D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E479D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E479D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E479D	p.E481D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1695	-	Colorectal(23;0.24)		481					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1443A>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.052	0.378019	0.11466	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	5.35	1.0	0.19881	.	0.362466	0.26567	N	0.023656	T	0.01835	0.0058	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.44190	-0.9344	10	0.22109	T	0.4	-2.1006	8.112	0.30920	0.1532:0.0:0.4572:0.3896	.	479;479;481	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	D	481;479;481;479;479;481	ENSP00000435210:E481D;ENSP00000229446:E479D;ENSP00000435441:E481D;ENSP00000434826:E479D;ENSP00000376159:E479D;ENSP00000431734:E481D	ENSP00000229446:E479D	E	-	3	2	BCLAF1	136638913	0.990000	0.36364	0.998000	0.56505	0.995000	0.86356	0.082000	0.14847	-0.033000	0.13736	0.451000	0.29950	GAA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		36	217	0	0	0	1	0	36	217				
ADAM29	11086	broad.mit.edu	37	4	175897720	175897720	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:175897720T>C	ENST00000359240.3	+	5	1714	c.1044T>C	c.(1042-1044)cgT>cgC	p.R348R	ADAM29_ENST00000514159.1_Silent_p.R348R|ADAM29_ENST00000445694.1_Silent_p.R348R|ADAM29_ENST00000404450.4_Silent_p.R348R|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	348	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATACATGTCGTTGTTCACAAC	0.373																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1042-1044)cgT>cgC		ADAM metallopeptidase domain 29							144.0	139.0	141.0					4																	175897720		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897720T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1044T>C	4.37:g.175897720T>C						ADAM29_ENST00000404450.4_Silent_p.R348R|ADAM29_ENST00000514159.1_Silent_p.R348R|ADAM29_ENST00000445694.1_Silent_p.R348R	p.R348R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1714	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	348			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1044T>C	CCDS3823.1																																																																																				0.373	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				22	121	0	0	0	1	0	22	121				
PLCZ1	89869	broad.mit.edu	37	12	18865916	18865916	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18865916G>T	ENST00000266505.7	-	6	837	c.574C>A	c.(574-576)Ctt>Att	p.L192I	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L55I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L190I|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000542762.1_5'UTR					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTTTCACAAGGGCACTAGCA	0.348																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(574-576)Ctt>Att		phospholipase C, zeta 1							107.0	91.0	96.0					12																	18865916		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18865916G>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.574C>A	12.37:g.18865916G>T	ENSP00000266505:p.Leu192Ile					PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L55I|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L190I	p.L192I			Q86YW0	PLCZ1_HUMAN			6	837	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		192			PI-PLC X-box.			Missense_Mutation	SNP	ENST00000266505.7	37	c.574C>A	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931174	0.92389	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695	D;D;D	0.83075	-1.68;-1.68;-1.68	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	H	0.94582	3.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.95103	0.8232	10	0.87932	D	0	.	17.8876	0.88862	0.0:0.0:1.0:0.0	.	192	Q86YW0	PLCZ1_HUMAN	I	192;190;55	ENSP00000266505:L192I;ENSP00000402358:L190I;ENSP00000443349:L55I	ENSP00000266505:L192I	L	-	1	0	PLCZ1	18757183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.531000	0.98054	2.709000	0.92574	0.591000	0.81541	CTT		0.348	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		30	53	1	0	3.73148e-12	1	4.34967e-12	30	53				
CCT8L2	150160	broad.mit.edu	37	22	17072850	17072850	+	Silent	SNP	G	G	A	rs534377200		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:17072850G>A	ENST00000359963.3	-	1	850	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	197					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGCTTGAAGCTGCCGTCTA	0.617																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(589-591)agC>agT		chaperonin containing TCP1, subunit 8 (theta)-like 2							67.0	65.0	66.0					22																	17072850		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072850G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.591C>T	22.37:g.17072850G>A							p.S197S	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	850	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	197					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.591C>T	CCDS13738.1																																																																																				0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			42	67	0	0	0	1	0	42	67				
UNC5C	8633	broad.mit.edu	37	4	96104154	96104154	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:96104154G>C	ENST00000453304.1	-	14	2693	c.2345C>G	c.(2344-2346)aCt>aGt	p.T782S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	782					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTTTCCAGAGTGAAGGTGCA	0.453																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2344-2346)aCt>aGt		unc-5 homolog C (C. elegans)							168.0	147.0	154.0					4																	96104154		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96104154G>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2345C>G	4.37:g.96104154G>C	ENSP00000406022:p.Thr782Ser						p.T782S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	14	2693	-		Hepatocellular(203;0.114)	782					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2345C>G	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480307	0.63849	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.46819	0.86	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	L	0.39147	1.195	0.80722	D	1	D	0.53462	0.96	P	0.60068	0.868	T	0.43829	-0.9367	10	0.21014	T	0.42	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	782	O95185	UNC5C_HUMAN	S	782;741	ENSP00000406022:T782S	ENSP00000328673:T741S	T	-	2	0	UNC5C	96323177	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	7.848000	0.86902	2.770000	0.95276	0.655000	0.94253	ACT		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		22	88	0	0	0	1	0	22	88				
MEGF9	1955	broad.mit.edu	37	9	123370287	123370287	+	Splice_Site	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:123370287T>A	ENST00000373930.3	-	5	1200	c.1089A>T	c.(1087-1089)aaA>aaT	p.K363N	MEGF9_ENST00000426959.1_Splice_Site_p.K400N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	363	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATTCACTCGATTCTAAAAGAG	0.343																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.e5-1		multiple EGF-like-domains 9							87.0	81.0	83.0					9																	123370287		1845	4085	5930	SO:0001630	splice_region_variant	1955					integral to membrane	calcium ion binding	g.chr9:123370287T>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1088-1A>T	9.37:g.123370287T>A						MEGF9_ENST00000426959.1_Splice_Site_p.K400_splice	p.K363_splice	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			5	1200	-			363			Laminin EGF-like 4.		B7Z315|O75098	Splice_Site	SNP	ENST00000373930.3	37	c.1087_splice	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376992	0.24857	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.18810	2.19;2.19	5.23	1.28	0.21552	.	0.667361	0.15095	N	0.280874	T	0.10078	0.0247	N	0.24115	0.695	0.22489	N	0.999054	B	0.12630	0.006	B	0.08055	0.003	T	0.25012	-1.0144	10	0.30078	T	0.28	.	0.6144	0.00767	0.2432:0.1688:0.1357:0.4524	.	400	C9J1K8	.	N	363;400	ENSP00000363040:K363N;ENSP00000392666:K400N	ENSP00000363040:K363N	K	-	3	2	MEGF9	122410108	0.018000	0.18449	0.562000	0.28370	0.237000	0.25408	0.022000	0.13511	0.396000	0.25283	0.455000	0.32223	AAA		0.343	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497	Missense_Mutation	36	91	0	0	0	1	0	36	91				
SLC2A13	114134	broad.mit.edu	37	12	40422130	40422130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:40422130C>A	ENST00000280871.4	-	3	948	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.E300*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	300					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCCTCCTCTTCAATGTTGTTT	0.358										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(898-900)Gaa>Taa		solute carrier family 2 (facilitated glucose transporter), member 13							93.0	95.0	94.0					12																	40422130		2203	4300	6503	SO:0001587	stop_gained	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40422130C>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.898G>T	12.37:g.40422130C>A	ENSP00000280871:p.Glu300*	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.E300*	p.E300*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			3	948	-		Lung NSC(34;0.105)|all_lung(34;0.123)	300					Q17S07	Nonsense_Mutation	SNP	ENST00000280871.4	37	c.898G>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	40	7.996277	0.98602	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	.	.	.	5.54	5.54	0.83059	.	0.049489	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-22.3934	19.8499	0.96734	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000280871:E300X	E	-	1	0	SLC2A13	38708397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.510000	0.67018	2.779000	0.95612	0.591000	0.81541	GAA		0.358	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			34	125	1	0	6.05902e-23	1	7.91603e-23	34	125				
DBF4B	80174	broad.mit.edu	37	17	42827996	42827996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:42827996G>A	ENST00000315005.3	+	14	1361	c.1223G>A	c.(1222-1224)tGg>tAg	p.W408*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.W408*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	408					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAGCAGCGATGGACAGAATCA	0.567																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1222-1224)tGg>tAg		DBF4 homolog B (S. cerevisiae)							51.0	51.0	51.0					17																	42827996		2203	4300	6503	SO:0001587	stop_gained	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42827996G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1223G>A	17.37:g.42827996G>A	ENSP00000323663:p.Trp408*					DBF4B_ENST00000393547.2_Nonsense_Mutation_p.W408*	p.W408*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1361	+		Prostate(33;0.0322)	408					D3DX56|Q8TEX0|Q96B19|Q9H912	Nonsense_Mutation	SNP	ENST00000315005.3	37	c.1223G>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150152	0.21371	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	.	.	.	1.97	-3.95	0.04118	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.1349	0.14930	0.2781:0.4738:0.2481:0.0	.	.	.	.	X	408	.	ENSP00000323663:W408X	W	+	2	0	DBF4B	40183522	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.287000	0.02785	-1.735000	0.01353	-0.693000	0.03709	TGG		0.567	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		19	48	0	0	0	1	0	19	48				
ZNF43	7594	broad.mit.edu	37	19	21990410	21990410	+	Nonstop_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:21990410T>A	ENST00000354959.4	-	4	2598	c.2429A>T	c.(2428-2430)tAa>tTa	p.*810L	ZNF43_ENST00000594012.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000595461.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000598381.1_Nonstop_Mutation_p.*804L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	0					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAGTATAATTTATTTTATGTT	0.308																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(2410-2412)tAa>tTa		zinc finger protein 43							26.0	28.0	27.0					19																	21990410		2195	4288	6483	SO:0001578	stop_lost	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990410T>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2429A>T	19.37:g.21990410T>A						ZNF43_ENST00000354959.4_Nonstop_Mutation_p.*810L|ZNF43_ENST00000598381.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000595461.1_Nonstop_Mutation_p.*804L	p.*804L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2925	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	0					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Nonstop_Mutation	SNP	ENST00000354959.4	37	c.2411A>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	0.965	-0.702060	0.03255	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	.	.	.	1.7	0.562	0.17290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3316	0.21272	0.222:0.0:0.0:0.778	.	.	.	.	L	809;810	.	.	X	-	2	2	ZNF43	21782250	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.610000	0.05629	-0.964000	0.03595	-1.363000	0.01210	TAA		0.308	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		12	29	0	0	0	1	0	12	29				
SYT4	6860	broad.mit.edu	37	18	40857225	40857225	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:40857225G>A	ENST00000255224.3	-	1	390	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R8W	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	8					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTTCCCGGCTGGTGGTG	0.478																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(22-24)Cgg>Tgg		synaptotagmin IV							130.0	121.0	124.0					18																	40857225		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40857225G>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.22C>T	18.37:g.40857225G>A	ENSP00000255224:p.Arg8Trp					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R8W	p.R8W	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			1	390	-			8					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.22C>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197752	0.58126	.	.	ENSG00000132872	ENST00000255224	T	0.39229	1.09	5.49	0.905	0.19307	.	0.569286	0.17902	N	0.158142	T	0.34019	0.0883	L	0.46157	1.445	0.35303	D	0.783224	D;P	0.61697	0.99;0.946	B;B	0.37422	0.249;0.12	T	0.56245	-0.8011	10	0.72032	D	0.01	.	16.053	0.80775	0.0:0.0:0.4512:0.5487	.	8;8	B4DEU3;Q9H2B2	.;SYT4_HUMAN	W	8	ENSP00000255224:R8W	ENSP00000255224:R8W	R	-	1	2	SYT4	39111223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.721000	0.25911	0.224000	0.20940	0.563000	0.77884	CGG		0.478	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		37	46	0	0	0	1	0	37	46				
MGAT5B	146664	broad.mit.edu	37	17	74928828	74928828	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:74928828G>A	ENST00000569840.2	+	11	1967	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	MGAT5B_ENST00000428789.2_Missense_Mutation_p.V476M|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V465M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	465					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGCCGTGGTGTACGGCAA	0.662																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1393-1395)Gtg>Atg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							87.0	72.0	77.0					17																	74928828		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928828G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1393G>A	17.37:g.74928828G>A	ENSP00000456037:p.Val465Met					MGAT5B_ENST00000428789.2_Missense_Mutation_p.V476M|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V465M	p.V465M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			11	1967	+			465					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1393G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660270	0.88154	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.59224	0.29;0.28	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.75324	0.3834	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.997	T	0.79600	-0.1736	10	0.87932	D	0	-34.3612	13.905	0.63828	0.0:0.0:1.0:0.0	.	476;465	Q3V5L5-2;Q3V5L5-5	.;.	M	465;476	ENSP00000301618:V465M;ENSP00000391227:V476M	ENSP00000301618:V465M	V	+	1	0	MGAT5B	72440423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.413000	0.97351	1.910000	0.55303	0.462000	0.41574	GTG		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		10	71	0	0	0	1	0	10	71				
ZFHX4	79776	broad.mit.edu	37	8	77616693	77616693	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:77616693G>T	ENST00000521891.2	+	2	818	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGACAGTGACGTGGAAAATCT	0.488										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(370-372)Gtg>Ttg		zinc finger homeobox 4							132.0	127.0	129.0					8																	77616693		1966	4169	6135	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616693G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.370G>T	8.37:g.77616693G>T	ENSP00000430497:p.Val124Leu	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron	p.V124L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	818	+			124					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.370G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033574	0.54896	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.42	5.42	0.78866	.	0.000000	0.40064	U	0.001196	T	0.58566	0.2131	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.81914	0.988;0.995;0.995;0.995	T	0.60156	-0.7318	10	0.72032	D	0.01	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	124;124;124;124	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	124	ENSP00000430497:V124L;ENSP00000399605:V124L;ENSP00000050961:V124L;ENSP00000428525:V124L;ENSP00000427775:V124L;ENSP00000427739:V124L;ENSP00000430848:V124L	ENSP00000050961:V124L	V	+	1	0	ZFHX4	77779248	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.621000	0.98376	2.821000	0.97095	0.650000	0.86243	GTG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	64	1	0	1.22574e-08	1	1.36609e-08	23	64				
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(256-258)ccG>ccA		zona pellucida glycoprotein 2 (sperm receptor)		C		1,4397	2.1+/-5.4	0,1,2198	170.0	148.0	155.0		258	1.0	0.1	16	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZP2	NM_003460.1		0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154		86/746	21221024	2,12996	2199	4300	6499	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21221024C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.258G>A	16.37:g.21221024C>T						ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P	p.P86P			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	5	740	-			86					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.258G>A	CCDS10596.1																																																																																				0.498	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			18	59	0	0	0	1	0	18	59				
EME1	146956	broad.mit.edu	37	17	48452787	48452787	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:48452787C>A	ENST00000338165.4	+	2	300	c.218C>A	c.(217-219)aCt>aAt	p.T73N	EME1_ENST00000393271.2_Missense_Mutation_p.T73N|EME1_ENST00000511648.2_Missense_Mutation_p.T73N|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	73					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATAGCTGAAACTGTCACACAA	0.443								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(217-219)aCt>aAt	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1							83.0	79.0	81.0					17																	48452787		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48452787C>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.218C>A	17.37:g.48452787C>A	ENSP00000339897:p.Thr73Asn					EME1_ENST00000338165.4_Missense_Mutation_p.T73N|EME1_ENST00000511648.2_Missense_Mutation_p.T73N	p.T73N	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		2	300	+	Breast(11;5.62e-19)		73					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.218C>A	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618304	0.28801	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	T;T;T;T	0.18338	2.91;2.9;2.22;2.9	5.65	3.67	0.42095	.	0.809674	0.11012	N	0.609401	T	0.17365	0.0417	L	0.27053	0.805	0.21147	N	0.999776	P;P	0.49090	0.919;0.868	P;B	0.48704	0.587;0.383	T	0.11891	-1.0569	10	0.44086	T	0.13	-0.0876	8.5896	0.33679	0.0:0.8254:0.0:0.1746	.	73;73	Q96AY2-2;Q96AY2	.;EME1_HUMAN	N	73	ENSP00000339897:T73N;ENSP00000376952:T73N;ENSP00000423029:T73N;ENSP00000421700:T73N	ENSP00000339897:T73N	T	+	2	0	EME1	45807786	0.002000	0.14202	0.001000	0.08648	0.342000	0.28953	0.974000	0.29436	0.759000	0.33084	0.655000	0.94253	ACT		0.443	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		34	69	1	0	9.62906e-15	1	1.16426e-14	34	69				
ADCY8	114	broad.mit.edu	37	8	132051852	132051852	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:132051852T>A	ENST00000286355.5	-	1	2820	c.728A>T	c.(727-729)cAg>cTg	p.Q243L	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q243L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	243					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCGCTGTACTGCAGGTACGT	0.642										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(727-729)cAg>cTg		adenylate cyclase 8 (brain)							55.0	48.0	51.0					8																	132051852		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051852T>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.728A>T	8.37:g.132051852T>A	ENSP00000286355:p.Gln243Leu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.Q243L	p.Q243L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2820	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		243						Missense_Mutation	SNP	ENST00000286355.5	37	c.728A>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343853	0.41498	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.60920	0.15;0.15	5.46	4.31	0.51392	.	0.070137	0.64402	D	0.000015	T	0.37544	0.1007	N	0.24115	0.695	0.44241	D	0.997083	B;B	0.22276	0.067;0.039	B;B	0.15052	0.012;0.012	T	0.17531	-1.0366	10	0.11485	T	0.65	.	10.0322	0.42107	0.0:0.0788:0.0:0.9212	.	243;243	E7EVL1;P40145	.;ADCY8_HUMAN	L	243	ENSP00000286355:Q243L;ENSP00000367161:Q243L	ENSP00000286355:Q243L	Q	-	2	0	ADCY8	132121034	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.944000	0.70219	2.085000	0.62840	0.374000	0.22700	CAG		0.642	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			8	23	0	0	0	1	0	8	23				
TMF1	7110	broad.mit.edu	37	3	69088066	69088066	+	Missense_Mutation	SNP	C	C	T	rs371091215		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69088066C>T	ENST00000398559.2	-	7	2138	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R644H|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	641					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TACCTGAAGACGGCCAAGATC	0.383																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1930-1932)cGt>cAt		TATA element modulatory factor 1							152.0	138.0	142.0					3																	69088066		1852	4088	5940	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088066C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1922G>A	3.37:g.69088066C>T	ENSP00000381567:p.Arg641His					CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R641H	p.R644H	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	7	2177	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	641					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.1931G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.868027	0.32977	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.19250	2.16;2.16	5.54	2.83	0.33086	.	0.261541	0.41001	N	0.000978	T	0.26846	0.0657	L	0.51422	1.61	0.31525	N	0.661856	D;P	0.58268	0.982;0.932	P;B	0.51415	0.669;0.366	T	0.21552	-1.0242	10	0.46703	T	0.11	-1.2245	9.9637	0.41712	0.0:0.7045:0.0:0.2955	.	644;641	P82094-2;P82094	.;TMF1_HUMAN	H	641;644;557	ENSP00000381567:R641H;ENSP00000438706:R644H	ENSP00000348582:R557H	R	-	2	0	TMF1	69170756	0.995000	0.38212	0.984000	0.44739	0.366000	0.29705	1.677000	0.37576	0.320000	0.23234	-0.997000	0.02515	CGT		0.383	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		45	51	0	0	0	1	0	45	51				
PKHD1	5314	broad.mit.edu	37	6	51890007	51890007	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51890007C>G	ENST00000371117.3	-	32	4876	c.4601G>C	c.(4600-4602)aGc>aCc	p.S1534T	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1534T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1534	IPT/TIG 10.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAACGTGGCTTGCATTAAA	0.453																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(4600-4602)aGc>aCc		polycystic kidney and hepatic disease 1 (autosomal recessive)							66.0	66.0	66.0					6																	51890007		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890007C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4601G>C	6.37:g.51890007C>G	ENSP00000360158:p.Ser1534Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.S1534T	p.S1534T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4876	-	Lung NSC(77;0.0605)		1534			IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4601G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.229039	0.00280	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.74209	-0.82;-0.82	5.66	3.77	0.43336	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057645	0.64402	D	0.000001	T	0.40719	0.1128	L	0.37897	1.145	0.18873	N	0.999988	B;B	0.18310	0.007;0.027	B;B	0.20577	0.016;0.03	T	0.35226	-0.9797	10	0.02654	T	1	.	15.423	0.75028	0.0:0.5985:0.4015:0.0	.	1534;1534	P08F94-2;P08F94	.;PKHD1_HUMAN	T	1534	ENSP00000360158:S1534T;ENSP00000341097:S1534T	ENSP00000341097:S1534T	S	-	2	0	PKHD1	51997966	0.758000	0.28405	0.226000	0.23910	0.026000	0.11368	1.526000	0.35964	1.391000	0.46566	0.650000	0.86243	AGC		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		61	38	0	0	0	1	0	61	38				
NCAM2	4685	broad.mit.edu	37	21	22804471	22804471	+	Silent	SNP	G	G	A	rs189917854	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:22804471G>A	ENST00000400546.1	+	12	1773	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	NCAM2_ENST00000284894.7_Silent_p.S366S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	508	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAGAGCTGTCGCAGACCACGG	0.448													A|||	10	0.00199681	0.0068	0.0014	5008	,	,		18049	0.0		0.0	False		,,,				2504	0.0					ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1522-1524)tcG>tcA		neural cell adhesion molecule 2		A		9,3837		0,9,1914	74.0	70.0	72.0		1524	2.7	1.0	21		72	2,8262		0,2,4130	no	coding-synonymous	NCAM2	NM_004540.3		0,11,6044	AA,AG,GG		0.0242,0.234,0.0908		508/838	22804471	11,12099	1923	4132	6055	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804471G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1524G>A	21.37:g.22804471G>A						NCAM2_ENST00000284894.7_Silent_p.S366S	p.S508S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1773	+		Lung NSC(9;0.195)	508			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1524G>A	CCDS42910.1																																																																																				0.448	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		23	37	0	0	0	1	0	23	37				
POLR3F	10621	broad.mit.edu	37	20	18460705	18460705	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18460705G>T	ENST00000377603.4	+	6	833	c.453G>T	c.(451-453)atG>atT	p.M151I	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	151					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						AGGTGTATATGCTCTATAACC	0.398																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(451-453)atG>atT		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							112.0	109.0	110.0					20																	18460705		2203	4300	6503	SO:0001583	missense	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18460705G>T	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.453G>T	20.37:g.18460705G>T	ENSP00000366828:p.Met151Ile					POLR3F_ENST00000462997.1_3'UTR	p.M151I	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			6	833	+			151					A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.453G>T	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109625	0.94292	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.64676	1.99	0.80722	D	1	P	0.50617	0.937	P	0.52646	0.705	T	0.68868	-0.5295	9	0.37606	T	0.19	-30.2496	20.1615	0.98135	0.0:0.0:1.0:0.0	.	151	Q9H1D9	RPC6_HUMAN	I	151	.	ENSP00000366828:M151I	M	+	3	0	POLR3F	18408705	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.767000	0.98960	2.835000	0.97688	0.650000	0.86243	ATG		0.398	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		31	76	1	0	2.20474e-14	1	2.64931e-14	31	76				
PPARA	5465	broad.mit.edu	37	22	46594409	46594409	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:46594409G>T	ENST00000396000.2	+	3	394	c.129G>T	c.(127-129)gaG>gaT	p.E43D	PPARA_ENST00000434345.2_Missense_Mutation_p.E43D|PPARA_ENST00000402126.1_Missense_Mutation_p.E43D|PPARA_ENST00000407236.1_Missense_Mutation_p.E43D|PPARA_ENST00000262735.5_Missense_Mutation_p.E43D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	43					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CCATCGGCGAGGATAGTTCTG	0.517																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(127-129)gaG>gaT		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						95.0	103.0	100.0					22																	46594409		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46594409G>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.129G>T	22.37:g.46594409G>T	ENSP00000379322:p.Glu43Asp					PPARA_ENST00000402126.1_Missense_Mutation_p.E43D|PPARA_ENST00000434345.2_Missense_Mutation_p.E43D|PPARA_ENST00000262735.5_Missense_Mutation_p.E43D|PPARA_ENST00000407236.1_Missense_Mutation_p.E43D	p.E43D			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	3	394	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	43					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.129G>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	7.676	0.687947	0.14973	.	.	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96522	-3.19;-3.19;-4.04;-3.19;-3.19;-3.06	5.7	-3.82	0.04281	.	0.289105	0.34067	N	0.004292	D	0.84447	0.5474	N	0.12746	0.255	0.26138	N	0.980329	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.75739	-0.3212	10	0.10377	T	0.69	.	0.9501	0.01374	0.3553:0.1144:0.3341:0.1963	.	43;43	F1D8S4;Q07869	.;PPARA_HUMAN	D	43	ENSP00000379322:E43D;ENSP00000262735:E43D;ENSP00000414752:E43D;ENSP00000385523:E43D;ENSP00000385246:E43D;ENSP00000408149:E43D	ENSP00000262735:E43D	E	+	3	2	PPARA	44973073	0.974000	0.33945	0.932000	0.37286	0.932000	0.56968	0.017000	0.13399	-0.004000	0.14419	0.655000	0.94253	GAG		0.517	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		39	106	1	0	1.59361e-14	1	1.9189e-14	39	106				
FKBP8	23770	broad.mit.edu	37	19	18652490	18652490	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18652490C>A	ENST00000596558.2	-	2	400	c.291G>T	c.(289-291)ctG>ctT	p.L97L	FKBP8_ENST00000222308.4_Splice_Site_p.L97L|FKBP8_ENST00000610101.1_Splice_Site_p.L97L|FKBP8_ENST00000597960.3_Splice_Site_p.L97L|FKBP8_ENST00000608443.1_Splice_Site_p.L97L|FKBP8_ENST00000453489.2_Splice_Site_p.L126L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	97					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTCCTTACCCAGAATGTCCA	0.657																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.e2+1		FK506 binding protein 8, 38kDa							22.0	26.0	25.0					19																	18652490		2188	4284	6472	SO:0001630	splice_region_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18652490C>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.292+1G>T	19.37:g.18652490C>A						FKBP8_ENST00000596558.1_Splice_Site_p.L97_splice|FKBP8_ENST00000544835.2_Splice_Site_p.L97_splice|FKBP8_ENST00000453489.2_Splice_Site_p.L126_splice|FKBP8_ENST00000222308.3_Splice_Site_p.L97_splice	p.L97_splice			Q14318	FKBP8_HUMAN			2	411	-			97					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Splice_Site	SNP	ENST00000596558.2	37	c.292_splice																																																																																					0.657	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	Silent	5	36	1	0	0.0381472	1	0.0383442	5	36				
SP7	121340	broad.mit.edu	37	12	53722592	53722592	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53722592C>A	ENST00000536324.2	-	3	917	c.634G>T	c.(634-636)Gct>Tct	p.A212S	SP7_ENST00000537210.2_Missense_Mutation_p.A194S|SP7_ENST00000303846.3_Missense_Mutation_p.A212S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	212					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGGTGGGGAGCTGGGTAGGGG	0.597																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(634-636)Gct>Tct		Sp7 transcription factor							44.0	49.0	47.0					12																	53722592		1939	4118	6057	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722592C>A	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.634G>T	12.37:g.53722592C>A	ENSP00000443827:p.Ala212Ser					SP7_ENST00000303846.3_Missense_Mutation_p.A212S|SP7_ENST00000537210.2_Missense_Mutation_p.A194S	p.A212S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	917	-			212					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.634G>T	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	1.434	-0.569538	0.03910	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.40756	3.41;3.41;3.4;1.02	4.45	3.55	0.40652	.	0.131624	0.51477	D	0.000087	T	0.10766	0.0263	N	0.00621	-1.32	0.38051	D	0.93578	B	0.25667	0.131	B	0.24974	0.057	T	0.27434	-1.0074	10	0.02654	T	1	.	7.1556	0.25635	0.1697:0.7384:0.0:0.092	.	212	Q8TDD2	SP7_HUMAN	S	212;212;194;194	ENSP00000443827:A212S;ENSP00000302812:A212S;ENSP00000441367:A194S;ENSP00000449355:A194S	ENSP00000302812:A212S	A	-	1	0	SP7	52008859	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.261000	0.58841	1.183000	0.42943	0.313000	0.20887	GCT		0.597	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			22	58	1	0	5.35356e-11	1	6.14239e-11	22	58				
KCTD20	222658	broad.mit.edu	37	6	36454839	36454839	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:36454839G>C	ENST00000373731.2	+	8	1538	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	KCTD20_ENST00000449081.2_Missense_Mutation_p.D217H|KCTD20_ENST00000544295.1_Missense_Mutation_p.D137H|KCTD20_ENST00000536244.1_Missense_Mutation_p.D238H|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	383					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AGCTGCTGGAGATGATGTCTT	0.488																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(1147-1149)Gat>Cat		potassium channel tetramerization domain containing 20							197.0	194.0	195.0					6																	36454839		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36454839G>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1147G>C	6.37:g.36454839G>C	ENSP00000362836:p.Asp383His					KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.D137H|KCTD20_ENST00000536244.1_Missense_Mutation_p.D238H|KCTD20_ENST00000449081.2_Missense_Mutation_p.D217H	p.D383H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			8	1538	+			383					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.1147G>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999401	0.74818	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	6.03	6.03	0.97812	.	0.281117	0.34460	N	0.003960	T	0.69242	0.3089	N	0.19112	0.55	0.43489	D	0.995724	B;B	0.29590	0.25;0.162	B;B	0.31495	0.124;0.131	T	0.69964	-0.5002	10	0.59425	D	0.04	-13.0102	20.5568	0.99304	0.0:0.0:1.0:0.0	.	217;383	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	H	383;137;217;238	ENSP00000362836:D383H;ENSP00000440150:D137H;ENSP00000412205:D217H;ENSP00000439118:D238H	ENSP00000362836:D383H	D	+	1	0	KCTD20	36562817	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAT		0.488	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		10	151	0	0	0	1	0	10	151				
NEFM	4741	broad.mit.edu	37	8	24772189	24772189	+	Missense_Mutation	SNP	C	C	A	rs201666371		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:24772189C>A	ENST00000221166.5	+	1	1665	c.883C>A	c.(883-885)Cgc>Agc	p.R295S	NEFM_ENST00000437366.2_Missense_Mutation_p.R295S|NEFM_ENST00000518131.1_Missense_Mutation_p.R295S|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	295	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTTCAAATGCCGCTACGCCAA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17327	0.001		0.0	False		,,,				2504	0.0					ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(883-885)Cgc>Agc		neurofilament, medium polypeptide							96.0	80.0	85.0					8																	24772189		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772189C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.883C>A	8.37:g.24772189C>A	ENSP00000221166:p.Arg295Ser					NEFM_ENST00000518131.1_Missense_Mutation_p.R295S|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.R295S|GS1-72M22.1_ENST00000607058.1_RNA	p.R295S			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1665	+		Prostate(55;0.157)	295			Coil 2B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.883C>A	CCDS6046.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.09	3.546274	0.65198	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	4.69	3.81	0.43845	Filament (1);	0.000000	0.45126	D	0.000395	D	0.92642	0.7662	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.73708	0.981;0.927	D	0.92101	0.5688	10	0.87932	D	0	.	8.188	0.31350	0.1554:0.7639:0.0:0.0807	.	295;295	E7EMV2;P07197	.;NFM_HUMAN	S	295	ENSP00000221166:R295S;ENSP00000427872:R295S;ENSP00000410137:R295S	ENSP00000221166:R295S	R	+	1	0	NEFM	24828094	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.596000	0.54024	1.101000	0.41535	-0.373000	0.07131	CGC		0.607	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		8	27	1	0	5.18039e-06	1	5.52071e-06	8	27				
DCDC1	341019	broad.mit.edu	37	11	30926565	30926565	+	Silent	SNP	G	G	A	rs375979270		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:30926565G>A	ENST00000597505.1	-	29	4250	c.4251C>T	c.(4249-4251)taC>taT	p.Y1417Y	DCDC1_ENST00000339794.5_Silent_p.Y496Y|DCDC1_ENST00000406071.2_Silent_p.Y152Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	179					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCCATTTTTGTATGCAATTA	0.458																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4249-4251)taC>taT		doublecortin domain containing 1		G		0,4404		0,0,2202	189.0	159.0	169.0		1572	4.3	1.0	11		169	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	DCDC5	NM_020869.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		524/891	30926565	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	341019				intracellular signal transduction			g.chr11:30926565G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4251C>T	11.37:g.30926565G>A						DCDC1_ENST00000406071.2_Silent_p.Y152Y|DCDC1_ENST00000339794.5_Silent_p.Y496Y	p.Y1417Y			P59894	DCDC1_HUMAN			29	4250	-	Lung SC(675;0.225)		179					A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.4251C>T																																																																																					0.458	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		78	86	0	0	0	1	0	78	86				
ADAMTS18	170692	broad.mit.edu	37	16	77356280	77356280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:77356280G>A	ENST00000282849.5	-	14	2534	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	706	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGGAGCAGGGAGTTCCATCT	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2116-2118)Ccc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							173.0	160.0	164.0					16																	77356280		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356280G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2116C>T	16.37:g.77356280G>A	ENSP00000282849:p.Pro706Ser						p.P706S	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2534	-			706			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2116C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463082	0.43736	.	.	ENSG00000140873	ENST00000282849	T	0.68624	-0.34	5.93	4.8	0.61643	.	0.313576	0.33772	N	0.004579	T	0.62073	0.2398	L	0.45581	1.43	0.37586	D	0.91998	B;B	0.33964	0.434;0.019	B;B	0.37422	0.249;0.022	T	0.66260	-0.5968	10	0.42905	T	0.14	.	13.8298	0.63373	0.1221:0.0:0.8779:0.0	.	706;706	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	706	ENSP00000282849:P706S	ENSP00000282849:P706S	P	-	1	0	ADAMTS18	75913781	0.470000	0.25854	1.000000	0.80357	0.985000	0.73830	0.788000	0.26872	2.826000	0.97356	0.655000	0.94253	CCC		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			40	91	0	0	0	1	0	40	91				
ZNF532	55205	broad.mit.edu	37	18	56620777	56620777	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:56620777G>C	ENST00000336078.4	+	8	3672	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	ZNF532_ENST00000591083.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591230.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000589288.1_Missense_Mutation_p.E966Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	966					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAAAAGTATTGAAGGGCCTCC	0.348																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(2896-2898)Gaa>Caa		zinc finger protein 532							39.0	42.0	41.0					18																	56620777		2188	4291	6479	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56620777G>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2896G>C	18.37:g.56620777G>C	ENSP00000338217:p.Glu966Gln					ZNF532_ENST00000591230.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000589288.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E966Q	p.E966Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			8	3672	+			966					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.2896G>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322159	0.41096	.	.	ENSG00000074657	ENST00000336078	T	0.01871	4.59	5.06	4.17	0.49024	.	0.103514	0.64402	N	0.000005	T	0.02888	0.0086	L	0.38175	1.15	0.50171	D	0.999858	B;B	0.13145	0.007;0.006	B;B	0.15052	0.012;0.008	T	0.51060	-0.8753	10	0.36615	T	0.2	-15.1105	15.2824	0.73797	0.0:0.1412:0.8588:0.0	.	966;966	B3KXW2;Q9HCE3	.;ZN532_HUMAN	Q	966	ENSP00000338217:E966Q	ENSP00000338217:E966Q	E	+	1	0	ZNF532	54771757	1.000000	0.71417	0.934000	0.37439	0.995000	0.86356	9.070000	0.93974	1.226000	0.43582	0.637000	0.83480	GAA		0.348	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		6	67	0	0	0	1	0	6	67				
MATK	4145	broad.mit.edu	37	19	3784149	3784149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:3784149G>A	ENST00000310132.6	-	5	733	c.335C>T	c.(334-336)tCc>tTc	p.S112F	MATK_ENST00000585778.1_Missense_Mutation_p.S112F|MATK_ENST00000395040.2_Missense_Mutation_p.S71F|MATK_ENST00000395045.2_Missense_Mutation_p.S113F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	112					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCTGCGGAGAGGGCCTC	0.687																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(334-336)tCc>tTc		megakaryocyte-associated tyrosine kinase							36.0	39.0	38.0					19																	3784149		2202	4298	6500	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784149G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.335C>T	19.37:g.3784149G>A	ENSP00000308734:p.Ser112Phe					MATK_ENST00000395045.2_Missense_Mutation_p.S113F|MATK_ENST00000395040.2_Missense_Mutation_p.S71F|MATK_ENST00000585778.1_Missense_Mutation_p.S112F	p.S112F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	733	-		Hepatocellular(1079;0.137)	112					B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.335C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.178334	0.38511	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.18657	2.2;2.2;2.2	4.25	0.407	0.16371	Src homology-3 domain (1);	0.696787	0.13327	N	0.396209	T	0.14313	0.0346	L	0.34521	1.04	0.09310	N	1	D;D;D	0.53151	0.958;0.958;0.958	B;B;B	0.43867	0.434;0.434;0.434	T	0.15838	-1.0423	10	0.87932	D	0	-10.4529	3.1997	0.06645	0.0865:0.2586:0.4017:0.2532	.	112;113;112	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	F	113;112;71	ENSP00000378485:S113F;ENSP00000308734:S112F;ENSP00000378481:S71F	ENSP00000308734:S112F	S	-	2	0	MATK	3735149	0.087000	0.21565	0.001000	0.08648	0.547000	0.35210	1.025000	0.30090	0.325000	0.23359	0.306000	0.20318	TCC		0.687	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		13	39	0	0	0	1	0	13	39				
OR6T1	219874	broad.mit.edu	37	11	123814526	123814526	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123814526G>T	ENST00000321252.2	-	1	54	c.20C>A	c.(19-21)aCt>aAt	p.T7N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTTACCTGAGTCCAGTTTTC	0.453																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(19-21)aCt>aAt		olfactory receptor, family 6, subfamily T, member 1							88.0	86.0	87.0					11																	123814526		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814526G>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.20C>A	11.37:g.123814526G>T	ENSP00000325203:p.Thr7Asn						p.T7N	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	54	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	7					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.20C>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095910	0.56075	.	.	ENSG00000181499	ENST00000321252	T	0.53857	0.6	3.74	2.78	0.32641	.	.	.	.	.	T	0.55386	0.1917	M	0.78049	2.395	0.25619	N	0.986428	P	0.43885	0.82	B	0.43274	0.414	T	0.51498	-0.8698	9	0.87932	D	0	-24.5006	8.6842	0.34227	0.0:0.2351:0.7649:0.0	.	7	Q8NGN1	OR6T1_HUMAN	N	7	ENSP00000325203:T7N	ENSP00000325203:T7N	T	-	2	0	OR6T1	123319736	0.058000	0.20735	0.939000	0.37840	0.683000	0.39861	1.935000	0.40173	0.723000	0.32274	0.655000	0.94253	ACT		0.453	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		33	64	1	0	6.00712e-18	1	7.52824e-18	33	64				
FAP	2191	broad.mit.edu	37	2	163059581	163059581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:163059581G>T	ENST00000188790.4	-	13	1329	c.1122C>A	c.(1120-1122)taC>taA	p.Y374*	FAP_ENST00000443424.1_Nonsense_Mutation_p.Y349*	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAATATGTTTGTAGCCATCCT	0.358																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1120-1122)taC>taA		fibroblast activation protein, alpha							96.0	89.0	92.0					2																	163059581		2203	4300	6503	SO:0001587	stop_gained	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163059581G>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1122C>A	2.37:g.163059581G>T	ENSP00000188790:p.Tyr374*					FAP_ENST00000443424.1_Nonsense_Mutation_p.Y349*	p.Y374*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			13	1329	-			374						Nonsense_Mutation	SNP	ENST00000188790.4	37	c.1122C>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	38	6.846704	0.97881	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	5.91	5.04	0.67666	.	0.057322	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7124	9.2148	0.37339	0.2275:0.0:0.7725:0.0	.	.	.	.	X	374;349	.	ENSP00000188790:Y374X	Y	-	3	2	FAP	162767827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	1.509000	0.48786	0.650000	0.86243	TAC		0.358	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			16	39	1	0	6.49762e-13	1	7.63503e-13	16	39				
CYP4F11	57834	broad.mit.edu	37	19	16034646	16034646	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16034646G>A	ENST00000402119.4	-	6	1320	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F11_ENST00000326742.8_Silent_p.F298F|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Silent_p.F298F	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCACATCAATGAAGTCTAAAG	0.463																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(892-894)ttC>ttT		cytochrome P450, family 4, subfamily F, polypeptide 11							136.0	128.0	131.0					19																	16034646		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034646G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.894C>T	19.37:g.16034646G>A						CYP4F11_ENST00000248041.7_Silent_p.F298F|CYP4F11_ENST00000402119.3_Silent_p.F298F	p.F298F			Q9HBI6	CP4FB_HUMAN			6	895	-			298						Silent	SNP	ENST00000402119.4	37	c.894C>T	CCDS12337.1																																																																																				0.463	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		48	116	0	0	0	1	0	48	116				
RCSD1	92241	broad.mit.edu	37	1	167666589	167666589	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167666589C>A	ENST00000367854.3	+	6	1059	c.728C>A	c.(727-729)cCc>cAc	p.P243H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P213H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	243	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGAGGTCACCCAGCAGGACA	0.622																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(727-729)cCc>cAc		RCSD domain containing 1							52.0	65.0	61.0					1																	167666589		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167666589C>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.728C>A	1.37:g.167666589C>A	ENSP00000356828:p.Pro243His					RCSD1_ENST00000537350.1_Missense_Mutation_p.P213H	p.P243H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			6	1059	+	all_hematologic(923;0.215)		243			RCSD.		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.728C>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781497	0.31502	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.43294	0.95;0.95	5.13	1.78	0.24846	.	1.640980	0.03259	N	0.183008	T	0.19208	0.0461	N	0.08118	0	0.24991	N	0.991532	P;P	0.42649	0.744;0.786	P;B	0.45474	0.482;0.397	T	0.40478	-0.9561	9	0.45353	T	0.12	-2.228	16.1616	0.81721	0.0:0.5621:0.4378:0.0	.	213;243	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	H	243;213	ENSP00000356828:P243H;ENSP00000439409:P213H	ENSP00000356828:P243H	P	+	2	0	RCSD1	165933213	0.043000	0.20138	0.031000	0.17742	0.973000	0.67179	0.407000	0.21049	0.487000	0.27698	0.460000	0.39030	CCC		0.622	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		17	15	1	0	3.52763e-06	1	3.76625e-06	17	15				
KHDRBS2	202559	broad.mit.edu	37	6	62604695	62604695	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:62604695C>A	ENST00000281156.4	-	6	933	c.655G>T	c.(655-657)Ggt>Tgt	p.G219C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	219	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGAGAACACCTCGTCCAGGT	0.592																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(655-657)Ggt>Tgt		KH domain containing, RNA binding, signal transduction associated 2							38.0	39.0	39.0					6																	62604695		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604695C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.655G>T	6.37:g.62604695C>A	ENSP00000281156:p.Gly219Cys						p.G219C	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	933	-			219			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.655G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591837	0.86953	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.52057	0.68	5.52	5.52	0.82312	.	0.271832	0.36555	N	0.002526	T	0.63307	0.2500	M	0.71206	2.165	0.58432	D	0.999993	D	0.76494	0.999	D	0.65443	0.935	T	0.65067	-0.6258	10	0.66056	D	0.02	-3.2969	19.7889	0.96450	0.0:1.0:0.0:0.0	.	219	Q5VWX1	KHDR2_HUMAN	C	219	ENSP00000281156:G219C	ENSP00000281156:G219C	G	-	1	0	KHDRBS2	62662654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.138000	0.71717	2.734000	0.93682	0.655000	0.94253	GGT		0.592	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		14	16	1	0	4.36969e-10	1	4.97446e-10	14	16				
LCMT1	51451	broad.mit.edu	37	16	25176024	25176024	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:25176024C>T	ENST00000399069.3	+	7	830	c.675C>T	c.(673-675)ttC>ttT	p.F225F	LCMT1_ENST00000380966.4_Silent_p.F170F|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	225					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCCATGTTCATAAACTACG	0.502																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(673-675)ttC>ttT		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						109.0	101.0	104.0					16																	25176024		1929	4153	6082	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25176024C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.675C>T	16.37:g.25176024C>T						LCMT1_ENST00000380966.4_Silent_p.F170F|LCMT1_ENST00000572869.1_3'UTR	p.F225F	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	830	+			225					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.675C>T	CCDS45445.1																																																																																				0.502	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		30	68	0	0	0	1	0	30	68				
GPR124	25960	broad.mit.edu	37	8	37702660	37702660	+	IGR	SNP	C	C	A	rs143386716		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:37702660C>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_3'UTR|BRF2_ENST00000220659.6_Missense_Mutation_p.R203L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCATTGTTCGAGACAGCAT	0.517																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(607-609)cGa>cTa		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							64.0	64.0	64.0					8																	37702660		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702660C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702660C>A						BRF2_ENST00000520601.1_3'UTR	p.R203L	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	728	-		Lung NSC(58;0.118)|all_lung(54;0.195)	203					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.608G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783506	0.49891	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.09	5.09	0.68999	.	0.068018	0.64402	D	0.000008	T	0.60919	0.2306	L	0.59436	1.845	0.80722	D	1	P	0.35124	0.485	B	0.35688	0.208	T	0.59742	-0.7397	9	0.27785	T	0.31	.	18.0842	0.89452	0.0:1.0:0.0:0.0	.	203	Q9HAW0	BRF2_HUMAN	L	203;180	.	ENSP00000220659:R203L	R	-	2	0	BRF2	37821818	1.000000	0.71417	0.524000	0.27887	0.174000	0.22865	6.460000	0.73518	2.361000	0.80049	0.655000	0.94253	CGA		0.517	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			25	54	1	0	4.47668e-21	1	5.74589e-21	25	54				
MYPN	84665	broad.mit.edu	37	10	69926399	69926399	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:69926399C>G	ENST00000358913.5	+	10	2437	c.1949C>G	c.(1948-1950)cCt>cGt	p.P650R	MYPN_ENST00000354393.2_Missense_Mutation_p.P375R|MYPN_ENST00000540630.1_Missense_Mutation_p.P650R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	650	Interaction with NEB.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAGAGCCCCCTCCAGTTCTG	0.483																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1948-1950)cCt>cGt		myopalladin							35.0	34.0	34.0					10																	69926399		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926399C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1949C>G	10.37:g.69926399C>G	ENSP00000351790:p.Pro650Arg					MYPN_ENST00000540630.1_Missense_Mutation_p.P650R|MYPN_ENST00000354393.2_Missense_Mutation_p.P375R	p.P650R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			10	2437	+			650			Interaction with NEB.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1949C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293203	0.80914	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.62105	0.07;0.07;0.05	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.79667	-0.1708	9	.	.	.	.	19.2596	0.93962	0.0:1.0:0.0:0.0	.	650;375;650	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	R	375;375;650;650	ENSP00000346369:P375R;ENSP00000351790:P650R;ENSP00000441668:P650R	.	P	+	2	0	MYPN	69596405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.543000	0.85770	0.655000	0.94253	CCT		0.483	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		26	21	0	0	0	1	0	26	21				
OR11H6	122748	broad.mit.edu	37	14	20692494	20692494	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20692494C>A	ENST00000315519.2	+	1	704	c.626C>A	c.(625-627)tCt>tAt	p.S209Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTGCATCTCTGCTCCTTCC	0.498																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(625-627)tCt>tAt		olfactory receptor, family 11, subfamily H, member 6							124.0	114.0	117.0					14																	20692494		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692494C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.626C>A	14.37:g.20692494C>A	ENSP00000319071:p.Ser209Tyr						p.S209Y	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	704	+	all_cancers(95;0.00108)		209					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.626C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081035	0.36758	.	.	ENSG00000176219	ENST00000315519	T	0.00158	8.65	5.0	-0.417	0.12347	GPCR, rhodopsin-like superfamily (1);	1.110610	0.06939	N	0.812390	T	0.00241	0.0007	L	0.48935	1.535	0.09310	N	1	B	0.33694	0.421	P	0.46389	0.515	T	0.27606	-1.0069	10	0.72032	D	0.01	.	7.4455	0.27209	0.4324:0.2726:0.2949:0.0	.	209	Q8NGC7	O11H6_HUMAN	Y	209	ENSP00000319071:S209Y	ENSP00000319071:S209Y	S	+	2	0	OR11H6	19762334	0.000000	0.05858	0.063000	0.19743	0.984000	0.73092	-0.009000	0.12765	-0.270000	0.09285	0.471000	0.43371	TCT		0.498	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			41	30	1	0	1.62957e-23	1	2.13379e-23	41	30				
TSSC1	7260	broad.mit.edu	37	2	3196187	3196187	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:3196187C>G	ENST00000382125.4	-	8	1179	c.987G>C	c.(985-987)gaG>gaC	p.E329D	TSSC1_ENST00000398659.4_Missense_Mutation_p.E356D|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	329										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCCCTTACTTCTCTTCAGAAC	0.562																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(1066-1068)gaG>gaC		tumor suppressing subtransferable candidate 1							136.0	106.0	116.0					2																	3196187		2202	4300	6502	SO:0001583	missense	7260						protein binding	g.chr2:3196187C>G	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.987G>C	2.37:g.3196187C>G	ENSP00000371559:p.Glu329Asp					TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.E329D	p.E356D			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1208	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	329					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.1068G>C	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777286	0.16120	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.82893	-1.62;-1.66;-1.24	4.93	0.942	0.19525	WD40/YVTN repeat-like-containing domain (1);	0.281972	0.44097	N	0.000493	T	0.64338	0.2589	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	10	0.14656	T	0.56	-0.9201	6.0778	0.19925	0.0:0.3742:0.399:0.2267	.	329	Q53HC9	TSSC1_HUMAN	D	329;356;178	ENSP00000371559:E329D;ENSP00000381652:E356D;ENSP00000393350:E178D	ENSP00000371559:E329D	E	-	3	2	TSSC1	3175194	0.752000	0.28338	0.991000	0.47740	0.342000	0.28953	-0.162000	0.10012	0.105000	0.17753	0.563000	0.77884	GAG		0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		4	61	0	0	0	1	0	4	61				
ECE2	9718	broad.mit.edu	37	3	184008893	184008893	+	Missense_Mutation	SNP	C	C	T	rs377161686		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:184008893C>T	ENST00000402825.3	+	17	2254	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	ECE2_ENST00000359140.4_Missense_Mutation_p.R605W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R634W|ECE2_ENST00000357474.5_Missense_Mutation_p.R680W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	752	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R605W(1)|p.R680W(1)|p.R752W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCCTTCCGGAACCACAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16709	0.0		0.0	False		,,,				2504	0.0					ENST00000402825.3																			3	Substitution - Missense(3)	p.R605W(1)|p.R680W(1)|p.R752W(1)	endometrium(3)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2254-2256)Cgg>Tgg		endothelin converting enzyme 2		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	77.0	83.0	81.0		1813,2038,1900,2254	4.9	1.0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	605/737,680/812,634/766,752/884	184008893	1,13005	2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008893C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2254C>T	3.37:g.184008893C>T	ENSP00000384223:p.Arg752Trp					ECE2_ENST00000357474.5_Missense_Mutation_p.R680W|ECE2_ENST00000404464.3_Missense_Mutation_p.R634W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R605W	p.R752W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2254	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		752			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2254C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895354	0.72639	0.0	1.16E-4	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	4.94	4.94	0.65067	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.402532	0.26133	N	0.026148	D	0.93048	0.7787	M	0.71581	2.175	0.35643	D	0.811125	D;D;P;D;D;D	0.69078	0.958;0.997;0.904;0.992;0.972;0.977	P;P;P;P;P;P	0.58820	0.67;0.846;0.54;0.761;0.655;0.766	D	0.95469	0.8550	10	0.87932	D	0	-12.5752	10.9048	0.47073	0.2955:0.7045:0.0:0.0	.	354;605;634;680;605;752	B4DHU4;B4DKF3;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	W	752;605;634;680;626	ENSP00000384223:R752W;ENSP00000352052:R605W;ENSP00000385846:R634W;ENSP00000350066:R680W;ENSP00000398444:R626W	ENSP00000350066:R680W	R	+	1	2	ECE2	185491587	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.416000	0.44644	2.286000	0.76751	0.561000	0.74099	CGG		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		20	75	0	0	0	1	0	20	75				
YWHAB	7529	broad.mit.edu	37	20	43533728	43533728	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:43533728G>C	ENST00000372839.3	+	5	818	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	YWHAB_ENST00000353703.4_Missense_Mutation_p.E182Q|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	182					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTTTACTATGAGATTCTAAA	0.403																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(544-546)Gag>Cag		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							65.0	65.0	65.0					20																	43533728		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43533728G>C	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.544G>C	20.37:g.43533728G>C	ENSP00000361930:p.Glu182Gln					YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E182Q	p.E182Q	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			5	818	+		Myeloproliferative disorder(115;0.0122)	182					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.544G>C	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740431	0.96873	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.64085	-0.08;-0.08	5.87	5.87	0.94306	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	M	0.89840	3.065	0.80722	D	1	P	0.49185	0.92	P	0.61328	0.887	D	0.84942	0.0866	10	0.87932	D	0	-21.9788	20.5827	0.99408	0.0:0.0:1.0:0.0	.	182	P31946	1433B_HUMAN	Q	182	ENSP00000300161:E182Q;ENSP00000361930:E182Q	ENSP00000300161:E182Q	E	+	1	0	YWHAB	42967142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAG		0.403	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		4	88	0	0	0	1	0	4	88				
NEIL3	55247	broad.mit.edu	37	4	178274519	178274519	+	Missense_Mutation	SNP	C	C	A	rs115288700	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:178274519C>A	ENST00000264596.3	+	8	1215	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	366					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGAAGTACCCGTGTAATACT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1096-1098)cCg>cAg	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							77.0	79.0	79.0					4																	178274519		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274519C>A	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1097C>A	4.37:g.178274519C>A	ENSP00000264596:p.Pro366Gln					RP11-376O6.2_ENST00000506895.1_RNA	p.P366Q	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1215	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	366					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1097C>A	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263097	0.59431	.	.	ENSG00000109674	ENST00000264596	T	0.06068	3.35	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00094	-1.2079	10	0.72032	D	0.01	-17.2711	19.3941	0.94598	0.0:1.0:0.0:0.0	.	366	Q8TAT5	NEIL3_HUMAN	Q	366	ENSP00000264596:P366Q	ENSP00000264596:P366Q	P	+	2	0	NEIL3	178511513	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.478000	0.73596	2.822000	0.97130	0.557000	0.71058	CCG		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		11	76	1	0	9.05144e-12	1	1.0509e-11	11	76				
FMN2	56776	broad.mit.edu	37	1	240255868	240255868	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255868G>T	ENST00000319653.9	+	1	689	c.459G>T	c.(457-459)agG>agT	p.R153S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGAGGCTAGGGTCGGGGGCC	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(457-459)agG>agT		formin 2							21.0	27.0	25.0					1																	240255868		2203	4299	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255868G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.459G>T	1.37:g.240255868G>T	ENSP00000318884:p.Arg153Ser						p.R153S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	689	+	Ovarian(103;0.127)	all_cancers(173;0.013)	153					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.459G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.667	-0.068370	0.07228	.	.	ENSG00000155816	ENST00000319653	T	0.31769	1.48	3.93	2.9	0.33743	.	0.644905	0.13586	N	0.377011	T	0.22820	0.0551	L	0.40543	1.245	0.21553	N	0.999647	B	0.15930	0.015	B	0.10450	0.005	T	0.08638	-1.0712	10	0.24483	T	0.36	.	8.6914	0.34269	0.0:0.2349:0.7651:0.0	.	153	Q9NZ56	FMN2_HUMAN	S	153	ENSP00000318884:R153S	ENSP00000318884:R153S	R	+	3	2	FMN2	238322491	0.001000	0.12720	0.010000	0.14722	0.076000	0.17211	0.387000	0.20718	2.125000	0.65367	0.313000	0.20887	AGG		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	12	1	0	0.000157383	1	0.000163544	8	12				
ROS1	6098	broad.mit.edu	37	6	117642486	117642486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117642486C>A	ENST00000368508.3	-	35	5911	c.5713G>T	c.(5713-5715)Gag>Tag	p.E1905*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1899*|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1905					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGCCAACTCTTTGTCTTCG	0.438			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5713-5715)Gag>Tag		c-ros oncogene 1 , receptor tyrosine kinase							173.0	163.0	166.0					6																	117642486		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117642486C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5713G>T	6.37:g.117642486C>A	ENSP00000357494:p.Glu1905*					GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1899*	p.E1905*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	35	5911	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1905					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.5713G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	44	11.170652	0.99525	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.16	4.3	0.51218	.	0.097326	0.44097	D	0.000499	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.9247	0.70868	0.0:0.8559:0.1441:0.0	.	.	.	.	X	1905;1899	.	ENSP00000357493:E1899X	E	-	1	0	ROS1	117749179	1.000000	0.71417	0.997000	0.53966	0.241000	0.25554	3.781000	0.55394	1.323000	0.45263	-0.127000	0.14921	GAG		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			71	178	1	0	1.93348e-29	1	2.62593e-29	71	178				
PODN	127435	broad.mit.edu	37	1	53541549	53541549	+	Missense_Mutation	SNP	C	C	T	rs76250115	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:53541549C>T	ENST00000312553.5	+	5	638	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.R192C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	163					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTGGCACCCCGCTTCCTGCC	0.597													C|||	5	0.000998403	0.0008	0.0	5008	,	,		17242	0.0		0.004	False		,,,				2504	0.0					ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(574-576)Cgc>Tgc		podocan		C	CYS/ARG,CYS/ARG,,CYS/ARG	6,4396		0,6,2195	70.0	49.0	56.0		574,574,,631	2.9	1.0	1	dbSNP_131	56	42,8556		0,42,4257	yes	missense,missense,intron,missense	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	180,180,,180	0,48,6452	TT,TC,CC		0.4885,0.1363,0.3692	probably-damaging,probably-damaging,,probably-damaging	192/643,192/643,,211/662	53541549	48,12952	2201	4299	6500	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53541549C>T	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.631C>T	1.37:g.53541549C>T	ENSP00000308315:p.Arg211Cys					PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.R211C|RP11-334A14.5_ENST00000447867.1_RNA	p.R192C	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			7	915	+			163					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.574C>T	CCDS573.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	20.8	4.048988	0.75846	0.001363	0.004885	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.18657	3.6;2.2	4.96	2.88	0.33553	.	0.164918	0.51477	D	0.000085	T	0.27933	0.0688	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.58873	0.847;0.663	T	0.02958	-1.1089	10	0.56958	D	0.05	.	11.3822	0.49763	0.5676:0.4324:0.0:0.0	.	192;211	Q7Z5L7-2;Q7Z5L7-3	.;.	C	192;211	ENSP00000360555:R192C;ENSP00000308315:R211C	ENSP00000308315:R211C	R	+	1	0	PODN	53314137	0.965000	0.33210	1.000000	0.80357	0.994000	0.84299	4.252000	0.58785	1.284000	0.44531	0.549000	0.68633	CGC		0.597	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		3	20	0	0	0	1	0	3	20				
RYR2	6262	broad.mit.edu	37	1	237656292	237656292	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656292G>C	ENST00000366574.2	+	19	2183	c.1866G>C	c.(1864-1866)ggG>ggC	p.G622G	RYR2_ENST00000360064.6_Silent_p.G620G|RYR2_ENST00000542537.1_Silent_p.G606G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCCACGGGGTTGCAGTCC	0.498																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1864-1866)ggG>ggC		ryanodine receptor 2 (cardiac)							139.0	152.0	148.0					1																	237656292		2027	4172	6199	SO:0001819	synonymous_variant	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.chr1:237656292G>C	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.1866G>C	1.37:g.237656292G>C						RYR2_ENST00000360064.6_Silent_p.G620G|RYR2_ENST00000542537.1_Silent_p.G606G	p.G622G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		19	2183	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	622			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1866G>C	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	21	0	0	0	1	0	18	21				
HNRNPM	4670	broad.mit.edu	37	19	8531138	8531138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531138G>A	ENST00000325495.4	+	7	691	c.650G>A	c.(649-651)tGg>tAg	p.W217*	HNRNPM_ENST00000348943.3_Nonsense_Mutation_p.W178*	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	217	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAAGTTGGCTGGAAGAAACTG	0.383																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(532-534)tGg>tAg		heterogeneous nuclear ribonucleoprotein M							178.0	172.0	174.0					19																	8531138		2203	4300	6503	SO:0001587	stop_gained	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8531138G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.650G>A	19.37:g.8531138G>A	ENSP00000325376:p.Trp217*					HNRNPM_ENST00000325495.4_Nonsense_Mutation_p.W217*	p.W178*	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			8	765	+			217					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Nonsense_Mutation	SNP	ENST00000325495.4	37	c.533G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	39	7.901303	0.98551	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	.	.	.	X	217;178;117	.	ENSP00000325376:W217X	W	+	2	0	HNRNPM	8437138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	TGG		0.383	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			6	161	0	0	0	1	0	6	161				
TRPC5	7224	broad.mit.edu	37	X	111025209	111025209	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:111025209C>G	ENST00000262839.2	-	8	2972	c.2054G>C	c.(2053-2055)aGa>aCa	p.R685T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	685					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCAGGGTCTCTTTTGGGGCA	0.433																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2053-2055)aGa>aCa		transient receptor potential cation channel, subfamily C, member 5							132.0	126.0	128.0					X																	111025209		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025209C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2054G>C	X.37:g.111025209C>G	ENSP00000262839:p.Arg685Thr						p.R685T	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			8	2972	-			685					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2054G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003375	0.19121	.	.	ENSG00000072315	ENST00000262839	D	0.81908	-1.55	5.72	4.8	0.61643	.	0.442312	0.25517	N	0.030134	T	0.57873	0.2083	N	0.03608	-0.345	0.32260	N	0.570318	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.55964	-0.8057	10	0.20046	T	0.44	-15.8435	3.6307	0.08130	0.0:0.5615:0.2172:0.2213	.	686;685	Q59G51;Q9UL62	.;TRPC5_HUMAN	T	685	ENSP00000262839:R685T	ENSP00000262839:R685T	R	-	2	0	TRPC5	110911865	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.425000	0.34859	2.410000	0.81850	0.594000	0.82650	AGA		0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		67	36	0	0	0	1	0	67	36				
HCP5	10866	broad.mit.edu	37	6	31431003	31431003	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:31431003G>T	ENST00000414046.2	+	0	166					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						ATGGAGTCCCGAACCCTCCTC	0.647																																						ENST00000414046.2																			0				urinary_tract(1)	1															21.0	25.0	24.0					6																	31431003		692	1591	2283			10866				defense response			g.chr6:31431003G>T	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431003G>T								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	166	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.647	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		6	5	1	0	2.0095e-06	1	2.14935e-06	6	5				
HERC2	8924	broad.mit.edu	37	15	28380704	28380704	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:28380704G>C	ENST00000261609.7	-	79	12258	c.12150C>G	c.(12148-12150)caC>caG	p.H4050Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGCAAGGCAGTGCTTTCCTC	0.463																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12148-12150)caC>caG		HECT and RLD domain containing E3 ubiquitin protein ligase 2							156.0	152.0	153.0					15																	28380704		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28380704G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12150C>G	15.37:g.28380704G>C	ENSP00000261609:p.His4050Gln						p.H4050Q	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	79	12258	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4050						Missense_Mutation	SNP	ENST00000261609.7	37	c.12150C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788065	0.70337	.	.	ENSG00000128731	ENST00000261609	D	0.91996	-2.95	5.35	3.41	0.39046	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95529	0.8601	10	0.87932	D	0	.	8.8249	0.35050	0.3028:0.0:0.6972:0.0	.	4050	O95714	HERC2_HUMAN	Q	4050	ENSP00000261609:H4050Q	ENSP00000261609:H4050Q	H	-	3	2	HERC2	26054299	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.425000	0.52771	1.361000	0.45981	0.557000	0.71058	CAC		0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		69	127	0	0	0	1	0	69	127				
C4orf27	54969	broad.mit.edu	37	4	170658814	170658814	+	Missense_Mutation	SNP	C	C	T	rs372065647		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:170658814C>T	ENST00000393381.2	-	6	808	c.733G>A	c.(733-735)Gat>Aat	p.D245N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	245						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACATTACCATCTGTTTCAGGG	0.358																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(733-735)Gat>Aat		chromosome 4 open reading frame 27		C	ASN/ASP	0,4406		0,0,2203	113.0	111.0	112.0		733	4.6	1.0	4		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	C4orf27	NM_017867.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	245/347	170658814	1,13005	2203	4300	6503	SO:0001583	missense	54969					nucleus		g.chr4:170658814C>T	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.733G>A	4.37:g.170658814C>T	ENSP00000406598:p.Asp245Asn						p.D245N	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	6	808	-		Prostate(90;0.00601)|Renal(120;0.0183)	245						Missense_Mutation	SNP	ENST00000393381.2	37	c.733G>A	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619248	0.46736	0.0	1.16E-4	ENSG00000056050	ENST00000393381	T	0.52526	0.66	4.64	4.64	0.57946	.	0.091953	0.64402	D	0.000001	T	0.43478	0.1249	M	0.64676	1.99	0.58432	D	0.999997	B	0.19935	0.04	B	0.23419	0.046	T	0.35251	-0.9796	10	0.31617	T	0.26	.	9.4243	0.38570	0.0:0.8627:0.0:0.1373	.	245	Q9NWY4	CD027_HUMAN	N	245	ENSP00000406598:D245N	ENSP00000406598:D245N	D	-	1	0	C4orf27	170895389	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.530000	0.67141	2.291000	0.77112	0.563000	0.77884	GAT		0.358	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		14	53	0	0	0	1	0	14	53				
UXT	8409	broad.mit.edu	37	X	47518284	47518284	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:47518284C>G	ENST00000333119.3	-	2	98	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_Missense_Mutation_p.E27Q|UXT_ENST00000460840.1_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	15					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCACTTTCTCCCCCGTGGCC	0.652																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(79-81)Gag>Cag		ubiquitously-expressed, prefoldin-like chaperone							65.0	48.0	54.0					X																	47518284		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47518284C>G	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.43G>C	X.37:g.47518284C>G	ENSP00000327797:p.Glu15Gln					UXT_ENST00000333119.3_Missense_Mutation_p.E15Q|RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA	p.E27Q	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			1	232	-			15					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.79G>C	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653711	0.47362	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	.	.	.	5.26	5.26	0.73747	.	0.121188	0.53938	D	0.000048	T	0.55940	0.1952	L	0.39085	1.19	0.31726	N	0.637605	B;D	0.67145	0.172;0.996	B;D	0.75484	0.025;0.986	T	0.57705	-0.7765	9	0.27082	T	0.32	-16.7627	12.8095	0.57631	0.0:1.0:0.0:0.0	.	15;15	Q9UBK9;B1AJQ0	UXT_HUMAN;.	Q	15;27;15	.	ENSP00000327797:E15Q	E	-	1	0	UXT	47403228	0.977000	0.34250	0.972000	0.41901	0.990000	0.78478	2.571000	0.45990	2.422000	0.82143	0.594000	0.82650	GAG		0.652	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		3	15	0	0	0	1	0	3	15				
PPP1R10	5514	broad.mit.edu	37	6	30570172	30570172	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:30570172G>A	ENST00000376511.2	-	19	2806	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	752	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCGTGAGGACGATGCCCACCA	0.672																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2254-2256)Cgt>Tgt		protein phosphatase 1, regulatory subunit 10							110.0	121.0	117.0					6																	30570172		1510	2707	4217	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570172G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2254C>T	6.37:g.30570172G>A	ENSP00000365694:p.Arg752Cys						p.R752C	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2806	-			752			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2254C>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	6.017	0.371558	0.11409	.	.	ENSG00000204569	ENST00000376511	T	0.58940	0.3	4.0	3.12	0.35913	.	0.196730	0.35436	N	0.003204	T	0.16385	0.0394	N	0.08118	0	0.19775	N	0.999954	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	10	0.41790	T	0.15	-14.0845	9.7267	0.40337	0.1054:0.0:0.8946:0.0	.	752	Q96QC0	PP1RA_HUMAN	C	752	ENSP00000365694:R752C	ENSP00000365694:R752C	R	-	1	0	PPP1R10	30678151	0.978000	0.34361	0.963000	0.40424	0.687000	0.40016	1.704000	0.37857	1.046000	0.40249	0.485000	0.47835	CGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		9	105	0	0	0	1	0	9	105				
SLC2A14	144195	broad.mit.edu	37	12	7973852	7973852	+	Missense_Mutation	SNP	C	C	T	rs375019509		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7973852C>T	ENST00000543909.1	-	13	1762	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312T|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312T|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335T|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ACCACACCCGCGCTGATGGTG	0.408																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1003-1005)Gcg>Acg		solute carrier family 2 (facilitated glucose transporter), member 14		C	THR/ALA	0,4406		0,0,2203	149.0	138.0	142.0		1003	3.0	0.0	12		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A14	NM_153449.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	335/521	7973852	1,13005	2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7973852C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1003G>A	12.37:g.7973852C>T	ENSP00000440480:p.Ala335Thr					SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312T|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350T|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335T|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226T	p.A335T			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	13	1762	-			335					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1003G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	c	10.18	1.278185	0.23307	0.0	1.16E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	2.98	2.98	0.34508	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052804	0.85682	N	0.000000	T	0.55561	0.1928	L	0.28344	0.845	0.47905	D	0.999545	B;B;B;B	0.33512	0.415;0.218;0.043;0.06	B;B;B;B	0.33690	0.168;0.109;0.022;0.023	T	0.54132	-0.8339	10	0.02654	T	1	.	11.7068	0.51601	0.0:1.0:0.0:0.0	.	350;226;312;335	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	T	312;335;312;335;226;226;350	ENSP00000340450:A312T;ENSP00000440480:A335T;ENSP00000407287:A312T;ENSP00000379834:A335T;ENSP00000440492:A226T;ENSP00000443903:A226T;ENSP00000445929:A350T	ENSP00000340450:A312T	A	-	1	0	SLC2A14	7865119	0.999000	0.42202	0.041000	0.18516	0.062000	0.15995	4.224000	0.58593	1.356000	0.45884	0.305000	0.20034	GCG		0.408	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	137	0	0	0	1	0	7	137				
OR6C70	390327	broad.mit.edu	37	12	55863538	55863538	+	Missense_Mutation	SNP	G	G	A	rs141132100		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:55863538G>A	ENST00000327335.4	-	1	384	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R129S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GACATATAACGCAAAGGTTTG	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21175	0.0		0.0	False		,,,				2504	0.0					ENST00000327335.4																			1	Substitution - Missense(1)	p.R129S(1)	lung(1)	autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(385-387)Cgt>Tgt		olfactory receptor, family 6, subfamily C, member 70		G	CYS/ARG	0,4406		0,0,2203	77.0	78.0	77.0		385	4.1	0.7	12	dbSNP_134	77	4,8596	3.7+/-12.6	0,4,4296	no	missense	OR6C70	NM_001005499.1	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	129/313	55863538	4,13002	2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863538G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.385C>T	12.37:g.55863538G>A	ENSP00000329153:p.Arg129Cys					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.R129C	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	384	-			129						Missense_Mutation	SNP	ENST00000327335.4	37	c.385C>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028529	0.35797	0.0	4.65E-4	ENSG00000184954	ENST00000327335	T	0.00922	5.54	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.02193	0.0068	M	0.74647	2.275	0.34305	D	0.684839	P	0.41597	0.756	B	0.40134	0.32	T	0.40232	-0.9574	10	0.87932	D	0	.	16.3842	0.83495	0.0:0.0:1.0:0.0	.	129	A6NIJ9	O6C70_HUMAN	C	129	ENSP00000329153:R129C	ENSP00000329153:R129C	R	-	1	0	OR6C70	54149805	0.369000	0.25039	0.669000	0.29828	0.025000	0.11179	1.959000	0.40412	2.261000	0.74972	0.655000	0.94253	CGT		0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			17	74	0	0	0	1	0	17	74				
UTRN	7402	broad.mit.edu	37	6	144832258	144832258	+	Splice_Site	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:144832258T>C	ENST00000367545.3	+	34	4943	c.4943T>C	c.(4942-4944)aTg>aCg	p.M1648T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1648	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATACCTTGATGGTATGTCTC	0.393																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.e34+1		utrophin							84.0	76.0	78.0					6																	144832258		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144832258T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4944+1T>C	6.37:g.144832258T>C							p.M1648_splice	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	34	4943	+		Ovarian(120;0.218)	1648			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.4944_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799426	0.50208	.	.	ENSG00000152818	ENST00000367545	T	0.33654	1.4	5.35	5.35	0.76521	.	0.365634	0.22648	N	0.057378	T	0.14787	0.0357	N	0.14661	0.345	0.80722	D	1	B	0.24317	0.101	B	0.28784	0.094	T	0.07908	-1.0748	10	0.62326	D	0.03	.	15.36	0.74464	0.0:0.0:0.0:1.0	.	1648	P46939	UTRO_HUMAN	T	1648	ENSP00000356515:M1648T	ENSP00000356515:M1648T	M	+	2	0	UTRN	144873951	1.000000	0.71417	0.896000	0.35187	0.826000	0.46750	4.703000	0.61824	2.026000	0.59711	0.459000	0.35465	ATG		0.393	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Missense_Mutation	34	83	0	0	0	1	0	34	83				
HIAT1	64645	broad.mit.edu	37	1	100546113	100546113	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:100546113C>A	ENST00000370152.3	+	11	1300	c.1164C>A	c.(1162-1164)ctC>ctA	p.L388L	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	388					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GACCGGCCCTCTATGGATTCA	0.403																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(1162-1164)ctC>ctA		hippocampus abundant transcript 1							168.0	166.0	167.0					1																	100546113		2203	4300	6503	SO:0001819	synonymous_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100546113C>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1164C>A	1.37:g.100546113C>A						RP4-714D9.2_ENST00000432294.1_RNA	p.L388L	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	11	1300	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	388					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	c.1164C>A	CCDS763.1																																																																																				0.403	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		53	122	1	0	1.19403e-26	1	1.58842e-26	53	122				
EDEM2	55741	broad.mit.edu	37	20	33711699	33711699	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:33711699G>A	ENST00000374492.3	-	9	1213	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	EDEM2_ENST00000542871.1_Missense_Mutation_p.R94W|EDEM2_ENST00000374491.3_Missense_Mutation_p.R333W|EDEM2_ENST00000541621.1_Missense_Mutation_p.R149W|EDEM2_ENST00000540582.1_Missense_Mutation_p.R329W	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	370					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCACCTGGCCGAAGTGGGTAG	0.547																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(985-987)Cgg>Tgg		ER degradation enhancer, mannosidase alpha-like 2							88.0	77.0	81.0					20																	33711699		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33711699G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1108C>T	20.37:g.33711699G>A	ENSP00000363616:p.Arg370Trp					EDEM2_ENST00000542871.1_Missense_Mutation_p.R94W|EDEM2_ENST00000374492.3_Missense_Mutation_p.R370W|EDEM2_ENST00000541621.1_Missense_Mutation_p.R149W|EDEM2_ENST00000374491.2_Missense_Mutation_p.R333W	p.R329W			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		13	1706	-			370					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.985C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337632	0.81911	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.94866	0.8341	H	0.98918	4.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96404	0.9299	10	0.87932	D	0	-18.6101	15.8056	0.78506	0.0:0.0:0.7914:0.2086	.	329;149;333;370	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	W	333;370;149;94;329	ENSP00000363615:R333W;ENSP00000363616:R370W;ENSP00000443528:R149W;ENSP00000441642:R94W;ENSP00000441548:R329W	ENSP00000363615:R333W	R	-	1	2	EDEM2	33175360	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.854000	0.62918	2.818000	0.97014	0.655000	0.94253	CGG		0.547	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		17	53	0	0	0	1	0	17	53				
OLFM2	93145	broad.mit.edu	37	19	9965001	9965001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9965001G>A	ENST00000264833.4	-	6	1411	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Missense_Mutation_p.P331L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	409	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTGTGGAAGGGCACGTCCGT	0.562																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1225-1227)cCc>cTc		olfactomedin 2							140.0	120.0	127.0					19																	9965001		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965001G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1226C>T	19.37:g.9965001G>A	ENSP00000264833:p.Pro409Leu					OLFM2_ENST00000590841.1_Missense_Mutation_p.P331L	p.P409L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1411	-			409			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1226C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414257	0.83449	.	.	ENSG00000105088	ENST00000264833	D	0.88818	-2.43	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	P	0.60117	0.869	D	0.91878	0.5513	9	.	.	.	.	14.6259	0.68621	0.0:0.0:1.0:0.0	.	409	O95897	NOE2_HUMAN	L	409	ENSP00000264833:P409L	.	P	-	2	0	OLFM2	9826001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.664000	0.83830	2.275000	0.75901	0.561000	0.74099	CCC		0.562	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			52	95	0	0	0	1	0	52	95				
THADA	63892	broad.mit.edu	37	2	43547613	43547613	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:43547613G>T	ENST00000405006.4	-	31	4761	c.4410C>A	c.(4408-4410)ctC>ctA	p.L1470L	THADA_ENST00000405975.2_Silent_p.L1470L|THADA_ENST00000415080.2_Silent_p.L1151L|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1470										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATCTGTTGAGGCAGCAAG	0.378																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4408-4410)ctC>ctA		thyroid adenoma associated							136.0	131.0	133.0					2																	43547613		1882	4108	5990	SO:0001819	synonymous_variant	63892						binding	g.chr2:43547613G>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4410C>A	2.37:g.43547613G>T						THADA_ENST00000405975.2_Silent_p.L1470L|THADA_ENST00000415080.2_Silent_p.L1151L|THADA_ENST00000330266.7_Intron	p.L1470L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			31	4761	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1470					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.4410C>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552405	0.13374	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.37	-0.767	0.11016	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.3647	8.6927	0.34275	0.1446:0.6096:0.2458:0.0	.	.	.	.	X	710	.	.	S	-	2	0	THADA	43401117	0.998000	0.40836	0.983000	0.44433	0.771000	0.43674	0.549000	0.23329	-0.262000	0.09392	0.650000	0.86243	TCA		0.378	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		34	74	1	0	1.04594e-18	1	1.31361e-18	34	74				
TBC1D8	11138	broad.mit.edu	37	2	101652552	101652552	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:101652552C>T	ENST00000376840.4	-	9	1485	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E511K			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	496					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGAATCTTCTCTGTGCGAAAC	0.468																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1531-1533)Gag>Aag		TBC1 domain family, member 8 (with GRAM domain)							151.0	157.0	155.0					2																	101652552		1965	4160	6125	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101652552C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1486G>A	2.37:g.101652552C>T	ENSP00000366036:p.Glu496Lys					TBC1D8_ENST00000376840.4_Missense_Mutation_p.E496K	p.E511K	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			9	1661	-			496			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1531G>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548735	0.65311	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.04406	3.63;3.63	5.0	5.0	0.66597	Rab-GAP/TBC domain (1);	0.000000	0.64402	D	0.000008	T	0.05273	0.0140	L	0.35593	1.075	0.54753	D	0.999988	B;B	0.22414	0.069;0.046	B;B	0.25506	0.053;0.061	T	0.28586	-1.0039	10	0.07030	T	0.85	-33.587	18.6504	0.91429	0.0:1.0:0.0:0.0	.	511;496	B7Z6L4;O95759	.;TBCD8_HUMAN	K	496;511	ENSP00000366036:E496K;ENSP00000386856:E511K	ENSP00000366036:E496K	E	-	1	0	TBC1D8	101018984	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.694000	0.61760	2.462000	0.83206	0.655000	0.94253	GAG		0.468	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		63	113	0	0	0	1	0	63	113				
PLCZ1	89869	broad.mit.edu	37	12	18847913	18847913	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18847913T>A	ENST00000538330.1	-	8	1119	c.738A>T	c.(736-738)ttA>ttT	p.L246F	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L271F|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L464F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L327F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L462F|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L269F|PLCZ1_ENST00000542762.1_5'Flank					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TACTCTCTCTTAAGAAATGTG	0.328																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1390-1392)ttA>ttT		phospholipase C, zeta 1							73.0	76.0	75.0					12																	18847913		2202	4299	6501	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847913T>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.738A>T	12.37:g.18847913T>A	ENSP00000445880:p.Leu246Phe					PLCZ1_ENST00000435379.1_Missense_Mutation_p.L269F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L327F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L271F|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L246F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L462F	p.L464F			Q86YW0	PLCZ1_HUMAN			12	1655	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		464			PI-PLC Y-box.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1392A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.77|12.77	2.037806|2.037806	0.35989|0.35989	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000536023|ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421	.|T;T;T;T;T;T;T	.|0.71103	.|-0.54;0.05;0.05;-0.54;0.05;-0.54;-0.54	5.09|5.09	-1.91|-1.91	0.07641|0.07641	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	.|0.000000	.|0.64402	.|D	.|0.000005	.|T	.|0.79958	.|0.4536	M|M	0.84683|0.84683	2.71|2.71	0.38911|0.38911	D|D	0.957522|0.957522	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|T	.|0.76743	.|-0.2847	.|10	.|0.87932	.|D	.|0	.|.	4.9445|4.9445	0.13982|0.13982	0.2538:0.3859:0.0:0.3602|0.2538:0.3859:0.0:0.3602	.|.	.|464;246	.|Q86YW0;Q8N7S5	.|PLCZ1_HUMAN;.	X|F	34|246;464;462;269;327;271;199	.|ENSP00000445880:L246F;ENSP00000266505:L464F;ENSP00000402358:L462F;ENSP00000400504:L269F;ENSP00000443349:L327F;ENSP00000445026:L271F;ENSP00000445889:L199F	.|ENSP00000266505:L464F	K|L	-|-	1|3	0|2	PLCZ1|PLCZ1	18739180|18739180	0.998000|0.998000	0.40836|0.40836	0.734000|0.734000	0.30879|0.30879	0.177000|0.177000	0.22998|0.22998	0.334000|0.334000	0.19787|0.19787	-0.283000|-0.283000	0.09115|0.09115	-0.815000|-0.815000	0.03128|0.03128	AAG|TTA		0.328	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		19	68	0	0	0	1	0	19	68				
PDE3A	5139	broad.mit.edu	37	12	20806919	20806919	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:20806919C>A	ENST00000359062.3	+	15	3004	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	988	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCATAAGCCCCTTCATGGATC	0.448																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2962-2964)ccC>ccA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						78.0	74.0	76.0					12																	20806919		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20806919C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2964C>A	12.37:g.20806919C>A						PDE3A_ENST00000544307.1_3'UTR	p.P988P	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			15	3004	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	988			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2964C>A	CCDS31754.1																																																																																				0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			25	62	1	0	2.27525e-19	1	2.87608e-19	25	62				
KIF1B	23095	broad.mit.edu	37	1	10355164	10355164	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:10355164C>T	ENST00000377086.1	+	18	1813	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	KIF1B_ENST00000377083.1_Silent_p.L491L|KIF1B_ENST00000377081.1_Silent_p.L537L|KIF1B_ENST00000263934.6_Silent_p.L491L|KIF1B_ENST00000377093.4_Silent_p.L491L			O60333	KIF1B_HUMAN	kinesin family member 1B	537					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)			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)		TTGTTAACCTCAATGAAGACC	0.423																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(1609-1611)ctC>ctT		kinesin family member 1B							159.0	152.0	154.0					1																	10355164		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:10355164C>T	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.1611C>T	1.37:g.10355164C>T						KIF1B_ENST00000377081.1_Silent_p.L537L|KIF1B_ENST00000377093.4_Silent_p.L491L|KIF1B_ENST00000377083.1_Silent_p.L491L|KIF1B_ENST00000263934.6_Silent_p.L491L	p.L537L			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)	18	1813	+	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)	537					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.1611C>T																																																																																					0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			28	88	0	0	0	1	0	28	88				
RAB3IP	117177	broad.mit.edu	37	12	70149380	70149380	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:70149380T>A	ENST00000247833.7	+	2	568	c.192T>A	c.(190-192)ccT>ccA	p.P64P	RAB3IP_ENST00000550536.1_Silent_p.P80P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P64P|RAB3IP_ENST00000362025.5_Silent_p.P80P|RAB3IP_ENST00000483530.2_Silent_p.P64P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGAACTTCCTACACAACCCG	0.393																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(238-240)ccT>ccA		RAB3A interacting protein							142.0	131.0	135.0					12																	70149380		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149380T>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.192T>A	12.37:g.70149380T>A						RAB3IP_ENST00000483530.2_Silent_p.P64P|RAB3IP_ENST00000378815.6_Silent_p.P64P|RAB3IP_ENST00000362025.5_Silent_p.P80P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Silent_p.P64P	p.P80P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	697	+	Esophageal squamous(21;0.187)		80						Silent	SNP	ENST00000247833.7	37	c.240T>A	CCDS8995.1																																																																																				0.393	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		51	63	0	0	0	1	0	51	63				
RPRD2	23248	broad.mit.edu	37	1	150444725	150444725	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:150444725G>A	ENST00000369068.4	+	11	3305	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.E1075K	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1101						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GATGTCAGGGGAGCCGATCCA	0.532																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(3223-3225)Gag>Aag		regulation of nuclear pre-mRNA domain containing 2							38.0	40.0	39.0					1																	150444725		1919	4139	6058	SO:0001583	missense	23248						protein binding	g.chr1:150444725G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3301G>A	1.37:g.150444725G>A	ENSP00000358064:p.Glu1101Lys					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.E1101K	p.E1075K			Q5VT52	RPRD2_HUMAN			10	3288	+			1101					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3223G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049292	0.75846	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.60040	0.22;0.23	5.14	5.14	0.70334	.	0.165804	0.42420	D	0.000703	T	0.58906	0.2155	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76071	0.971;0.987	T	0.65487	-0.6156	10	0.87932	D	0	-14.3764	18.3966	0.90501	0.0:0.0:1.0:0.0	.	1101;1075	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	K	1075;1101	ENSP00000383785:E1075K;ENSP00000358064:E1101K	ENSP00000358064:E1101K	E	+	1	0	RPRD2	148711349	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.333000	0.72939	2.659000	0.90383	0.655000	0.94253	GAG		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		11	21	0	0	0	1	0	11	21				
NWD1	284434	broad.mit.edu	37	19	16902219	16902219	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16902219C>T	ENST00000552788.1	+	12	2999	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	NWD1_ENST00000523826.1_Missense_Mutation_p.S794F|NWD1_ENST00000339803.6_Missense_Mutation_p.S865F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1000F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1000F|NWD1_ENST00000524140.2_Missense_Mutation_p.S1000F			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1000							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGATGCCTCTGATCCTTGG	0.527																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2998-3000)tCt>tTt		NACHT and WD repeat domain containing 1							111.0	103.0	106.0					19																	16902219		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902219C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2999C>T	19.37:g.16902219C>T	ENSP00000447224:p.Ser1000Phe					NWD1_ENST00000523826.1_Missense_Mutation_p.S794F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1000F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1000F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1000F|NWD1_ENST00000339803.6_Missense_Mutation_p.S865F	p.S1000F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3417	+			1000					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2999C>T		.	.	.	.	.	.	.	.	.	.	C	16.62	3.175296	0.57692	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.42900	1.46;0.96;1.46;3.47;1.47;3.47	5.44	0.635	0.17723	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.679820	0.02906	N	0.136124	T	0.43433	0.1247	L	0.27053	0.805	0.09310	N	1	D;D;D	0.65815	0.991;0.995;0.974	P;P;P	0.58172	0.687;0.834;0.598	T	0.42344	-0.9457	10	0.52906	T	0.07	-8.4225	3.2181	0.06706	0.1683:0.4106:0.3265:0.0947	.	1000;1000;865	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	F	865;1000;1000;1000;794;1000;865	ENSP00000428579:S1000F;ENSP00000447548:S1000F;ENSP00000369136:S1000F;ENSP00000428955:S794F;ENSP00000447224:S1000F;ENSP00000340159:S865F	ENSP00000340159:S865F	S	+	2	0	NWD1	16763219	0.000000	0.05858	0.001000	0.08648	0.235000	0.25334	0.341000	0.19909	1.224000	0.43551	0.655000	0.94253	TCT		0.527	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	112	0	0	0	1	0	6	112				
GPR12	2835	broad.mit.edu	37	13	27333515	27333515	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333515C>G	ENST00000381436.2	-	1	912	c.450G>C	c.(448-450)tcG>tcC	p.S150S	GPR12_ENST00000405846.3_Silent_p.S150S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	150					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCGTCCTCTCCGAATGGTACG	0.582																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(448-450)tcG>tcC		G protein-coupled receptor 12							94.0	77.0	83.0					13																	27333515		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333515C>G	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.450G>C	13.37:g.27333515C>G						GPR12_ENST00000381436.2_Silent_p.S150S	p.S150S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	671	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	150					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.450G>C	CCDS9319.1																																																																																				0.582	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			18	18	0	0	0	1	0	18	18				
SCN10A	6336	broad.mit.edu	37	3	38768458	38768458	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:38768458T>A	ENST00000449082.2	-	16	2725	c.2726A>T	c.(2725-2727)aAc>aTc	p.N909I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	909					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACCTGCAGGTTGTTCACCTC	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2725-2727)aAc>aTc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						126.0	122.0	123.0					3																	38768458		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768458T>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2726A>T	3.37:g.38768458T>A	ENSP00000390600:p.Asn909Ile						p.N909I	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2725	-			909					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2726A>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339341	0.81911	.	.	ENSG00000185313	ENST00000449082	D	0.87887	-2.31	5.03	5.03	0.67393	Sodium ion transport-associated (1);	0.462361	0.24433	N	0.038562	D	0.93697	0.7986	M	0.87456	2.885	0.43782	D	0.996318	D	0.67145	0.996	D	0.67382	0.951	D	0.94732	0.7910	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	909	Q9Y5Y9	SCNAA_HUMAN	I	909	ENSP00000390600:N909I	ENSP00000390600:N909I	N	-	2	0	SCN10A	38743462	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.139000	0.71728	2.131000	0.65755	0.459000	0.35465	AAC		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		49	49	0	0	0	1	0	49	49				
LRRC4B	94030	broad.mit.edu	37	19	51021474	51021474	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:51021474G>T	ENST00000599957.1	-	3	1693	c.1496C>A	c.(1495-1497)cCc>cAc	p.P499H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P499H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	499	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCTCTCCGGGCTGCGTCTC	0.746																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1495-1497)cCc>cAc		leucine rich repeat containing 4B							8.0	10.0	9.0					19																	51021474		1878	4007	5885	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021474G>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1496C>A	19.37:g.51021474G>T	ENSP00000471502:p.Pro499His					LRRC4B_ENST00000389201.3_Missense_Mutation_p.P499H	p.P499H			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1693	-		all_neural(266;0.131)	499			Gly-rich.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1496C>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484571	0.26598	.	.	ENSG00000131409	ENST00000389201	T	0.60171	0.21	3.15	3.15	0.36227	.	0.518980	0.17593	U	0.168717	T	0.41627	0.1167	N	0.20986	0.625	0.25198	N	0.990074	B	0.06786	0.001	B	0.06405	0.002	T	0.40117	-0.9580	10	0.62326	D	0.03	.	9.9541	0.41655	0.0:0.0:1.0:0.0	.	499	Q9NT99	LRC4B_HUMAN	H	499	ENSP00000373853:P499H	ENSP00000373853:P499H	P	-	2	0	LRRC4B	55713286	0.117000	0.22190	0.953000	0.39169	0.847000	0.48162	2.757000	0.47557	1.764000	0.52075	0.462000	0.41574	CCC		0.746	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		3	14	1	0	0.115264	1	0.11566	3	14				
FAM135B	51059	broad.mit.edu	37	8	139209765	139209765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139209765C>A	ENST00000395297.1	-	8	987	c.817G>T	c.(817-819)Gag>Tag	p.E273*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	273										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCCAGCTCCGTGTGTGGC	0.602										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(817-819)Gag>Tag		family with sequence similarity 135, member B							44.0	50.0	48.0					8																	139209765		2116	4236	6352	SO:0001587	stop_gained	51059							g.chr8:139209765C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.817G>T	8.37:g.139209765C>A	ENSP00000378710:p.Glu273*	HNSCC(54;0.14)					p.E273*	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	987	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		273					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.817G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972379	0.92919	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.62	3.65	0.41850	.	0.545317	0.19769	N	0.106495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.4718	6.8205	0.23855	0.0:0.8714:0.0:0.1286	.	.	.	.	X	273	.	ENSP00000276737:E273X	E	-	1	0	FAM135B	139278947	0.951000	0.32395	0.980000	0.43619	0.288000	0.27193	1.794000	0.38774	2.408000	0.81797	0.557000	0.71058	GAG		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		23	39	1	0	5.45024e-15	1	6.60361e-15	23	39				
CNOT4	4850	broad.mit.edu	37	7	135078968	135078968	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:135078968A>T	ENST00000315544.5	-	10	1608	c.1329T>A	c.(1327-1329)acT>acA	p.T443T	CNOT4_ENST00000541284.1_Silent_p.T443T|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000428680.2_Silent_p.T440T|CNOT4_ENST00000361528.4_Silent_p.T440T|CNOT4_ENST00000423368.2_Silent_p.T443T|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Silent_p.T440T	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	443					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGGCGGTTGTAGTGTGTGAAG	0.498																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1318-1320)acT>acA		CCR4-NOT transcription complex, subunit 4							119.0	127.0	124.0					7																	135078968		1983	4174	6157	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078968A>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1329T>A	7.37:g.135078968A>T						CNOT4_ENST00000423368.2_Silent_p.T443T|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Silent_p.T443T|CNOT4_ENST00000315544.5_Silent_p.T443T|CNOT4_ENST00000361528.4_Silent_p.T440T|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Silent_p.T440T	p.T440T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1599	-			443					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1320T>A	CCDS55166.1																																																																																				0.498	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		86	87	0	0	0	1	0	86	87				
SLC2A5	6518	broad.mit.edu	37	1	9100042	9100042	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:9100042T>A	ENST00000377424.4	-	7	881	c.702A>T	c.(700-702)ctA>ctT	p.L234L	SLC2A5_ENST00000536305.1_Silent_p.L175L|SLC2A5_ENST00000535586.1_Silent_p.L119L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	234					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGTCTGTAGGGCTGGGG	0.687																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(700-702)ctA>ctT		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							28.0	34.0	32.0					1																	9100042		2202	4299	6501	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9100042T>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.702A>T	1.37:g.9100042T>A						SLC2A5_ENST00000535586.1_Silent_p.L119L|SLC2A5_ENST00000536305.1_Silent_p.L175L	p.L234L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	881	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	234					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.702A>T	CCDS99.1																																																																																				0.687	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	38	0	0	0	1	0	13	38				
NPIPA1	9284	broad.mit.edu	37	16	15045813	15045813	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:15045813C>G	ENST00000328085.6	+	8	984	c.984C>G	c.(982-984)ctC>ctG	p.L328L	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	328	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ATGATAATCTCAAGACACCTC	0.468																																						ENST00000328085.6																			0											c.(982-984)ctC>ctG		nuclear pore complex interacting protein family, member A1							50.0	63.0	58.0					16																	15045813		1400	2400	3800	SO:0001819	synonymous_variant	9284							g.chr16:15045813C>G	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.984C>G	16.37:g.15045813C>G						NPIPA1_ENST00000472413.1_3'UTR	p.L328L	NM_006985.2	NP_008916.2					8	984	+								O15102	Silent	SNP	ENST00000328085.6	37	c.984C>G	CCDS10557.1																																																																																				0.468	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		23	150	0	0	0	1	0	23	150				
SP110	3431	broad.mit.edu	37	2	231065661	231065661	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:231065661C>G	ENST00000358662.4	-	10	1147	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	SP110_ENST00000392048.3_Missense_Mutation_p.E355Q|SP110_ENST00000338556.3_Missense_Mutation_p.E59Q|SP110_ENST00000258381.6_Missense_Mutation_p.E357Q|SP110_ENST00000540870.1_Missense_Mutation_p.E363Q|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000258382.5_Missense_Mutation_p.E357Q	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	357					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCATTCATTTCTGAAGTGCCA	0.473																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1069-1071)Gaa>Caa		SP110 nuclear body protein							193.0	174.0	181.0					2																	231065661		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231065661C>G	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1069G>C	2.37:g.231065661C>G	ENSP00000351488:p.Glu357Gln					SP110_ENST00000338556.3_Missense_Mutation_p.E59Q|SP110_ENST00000358662.4_Missense_Mutation_p.E357Q|SP110_ENST00000540870.1_Missense_Mutation_p.E363Q|SP110_ENST00000258382.5_Missense_Mutation_p.E357Q|SP110_ENST00000392048.3_Missense_Mutation_p.E355Q	p.E357Q	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	10	1146	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	357					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1069G>C	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.073937	0.07184	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.70749	0.88;0.74;-0.51;-0.38;-0.36;1.95	2.57	-0.437	0.12272	.	.	.	.	.	T	0.52597	0.1744	L	0.34521	1.04	0.09310	N	1	B;B;P;B	0.35433	0.137;0.288;0.501;0.435	B;B;B;B	0.31101	0.102;0.102;0.116;0.124	T	0.35968	-0.9767	9	0.41790	T	0.15	.	6.6199	0.22798	0.0:0.6867:0.0:0.3133	.	355;363;357;357	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	Q	357;357;355;357;363;59	ENSP00000258381:E357Q;ENSP00000351488:E357Q;ENSP00000375902:E355Q;ENSP00000258382:E357Q;ENSP00000439558:E363Q;ENSP00000344049:E59Q	ENSP00000258381:E357Q	E	-	1	0	SP110	230773905	0.167000	0.22975	0.022000	0.16811	0.006000	0.05464	0.024000	0.13555	-0.109000	0.12044	-1.334000	0.01262	GAA		0.473	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		5	173	0	0	0	1	0	5	173				
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:26273432G>T	ENST00000377733.2	+	1	289	c.229G>T	c.(229-231)Gag>Tag	p.E77*	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587																																						ENST00000377733.2																			4	Substitution - Missense(4)	p.E77Q(2)|p.E77K(2)	endometrium(2)|urinary_tract(1)|cervix(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(229-231)Gag>Tag		histone cluster 1, H2bi							127.0	124.0	125.0					6																	26273432		2203	4300	6503	SO:0001587	stop_gained	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273432G>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.229G>T	6.37:g.26273432G>T	ENSP00000366962:p.Glu77*						p.E77*	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	289	+			77					P02278|Q3B872|Q4VB69|Q93078|Q93080	Nonsense_Mutation	SNP	ENST00000377733.2	37	c.229G>T	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.629004	0.46944	.	.	ENSG00000168242	ENST00000377733	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000366962:E77X	E	+	1	0	HIST1H2BI	26381411	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	7.542000	0.82095	2.058000	0.61347	0.563000	0.77884	GAG		0.587	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		9	139	1	0	7.48243e-07	1	8.06225e-07	9	139				
DTX1	1840	broad.mit.edu	37	12	113534540	113534540	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113534540G>T	ENST00000257600.3	+	9	2162	c.1659G>T	c.(1657-1659)acG>acT	p.T553T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	553					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCTCATCACGGCCTGGGAGA	0.642																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1657-1659)acG>acT		deltex homolog 1 (Drosophila)							55.0	36.0	43.0					12																	113534540		2203	4300	6503	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534540G>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1659G>T	12.37:g.113534540G>T						DTX1_ENST00000547974.1_3'UTR	p.T553T	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2162	+			553					O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.1659G>T	CCDS9164.1																																																																																				0.642	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			18	17	1	0	3.99206e-14	1	4.76761e-14	18	17				
HYPM	25763	broad.mit.edu	37	X	37850191	37850191	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:37850191C>A	ENST00000341016.3	+	1	122	c.99C>A	c.(97-99)gaC>gaA	p.D33E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		33										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GCTTCGTGGACCGCGTTGTGC	0.468																																						ENST00000341016.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(97-99)gaC>gaA		chromosome X open reading frame 27							81.0	74.0	76.0					X																	37850191		1981	4148	6129	SO:0001583	missense	25763						DNA binding	g.chrX:37850191C>A																												ENST00000341016.3:c.99C>A	X.37:g.37850191C>A	ENSP00000339511:p.Asp33Glu					TM4SF2_ENST00000465127.1_Intron	p.D33E	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN			1	122	+			33					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.99C>A	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661019	0.29515	.	.	ENSG00000187516	ENST00000341016	T	0.41065	1.01	3.7	-0.652	0.11450	Histone-fold (2);	.	.	.	.	T	0.31513	0.0799	L	0.54323	1.7	0.09310	N	1	P	0.40332	0.713	B	0.39562	0.303	T	0.27673	-1.0067	9	0.59425	D	0.04	.	0.3607	0.00364	0.2111:0.3322:0.1797:0.277	.	33	O75409	HYPM_HUMAN	E	33	ENSP00000339511:D33E	ENSP00000339511:D33E	D	+	3	2	CXorf27	37735135	0.130000	0.22417	0.000000	0.03702	0.005000	0.04900	0.294000	0.19047	-0.281000	0.09141	0.513000	0.50165	GAC		0.468	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			16	9	1	0	1.15088e-07	1	1.25394e-07	16	9				
NEK11	79858	broad.mit.edu	37	3	130889723	130889723	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:130889723G>C	ENST00000510769.1	+	10	1329	c.1076G>C	c.(1075-1077)gGa>gCa	p.G359A	NEK11_ENST00000511262.1_Missense_Mutation_p.G464A|NEK11_ENST00000510688.1_Missense_Mutation_p.G464A|NEK11_ENST00000356918.4_Missense_Mutation_p.G464A|NEK11_ENST00000508196.1_Missense_Mutation_p.G464A|NEK11_ENST00000507910.1_Missense_Mutation_p.G464A|NEK11_ENST00000412440.2_Missense_Mutation_p.G280A|NEK11_ENST00000383366.4_Missense_Mutation_p.G464A|NEK11_ENST00000429253.2_Missense_Mutation_p.G464A					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCTGACCTTGGATACCATGGT	0.498																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1390-1392)gGa>gCa		NIMA-related kinase 11							180.0	158.0	166.0					3																	130889723		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130889723G>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1076G>C	3.37:g.130889723G>C	ENSP00000421549:p.Gly359Ala					NEK11_ENST00000508196.1_Missense_Mutation_p.G464A|NEK11_ENST00000429253.2_Missense_Mutation_p.G464A|NEK11_ENST00000356918.4_Missense_Mutation_p.G464A|NEK11_ENST00000412440.2_Missense_Mutation_p.G280A|NEK11_ENST00000511262.1_Missense_Mutation_p.G464A|NEK11_ENST00000510769.1_Missense_Mutation_p.G359A|NEK11_ENST00000507910.1_Missense_Mutation_p.G464A|NEK11_ENST00000510688.1_Missense_Mutation_p.G464A	p.G464A	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			14	1684	+			464						Missense_Mutation	SNP	ENST00000510769.1	37	c.1391G>C		.	.	.	.	.	.	.	.	.	.	G	12.63	1.995186	0.35226	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.79033	-0.5;-0.34;-1.23;-0.44;-1.11;-0.34;-0.55;-1.23;-0.34	5.16	2.33	0.28932	.	0.153257	0.30565	N	0.009353	T	0.66761	0.2822	L	0.56769	1.78	0.09310	N	1	B;B;B;P;B;B	0.41848	0.01;0.028;0.278;0.763;0.451;0.01	B;B;B;B;B;B	0.39119	0.018;0.043;0.084;0.291;0.112;0.011	T	0.54364	-0.8305	10	0.20046	T	0.44	.	4.876	0.13656	0.1919:0.1973:0.6107:0.0	.	464;359;280;464;464;464	Q8NG66-3;E9PHI8;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;NEK11_HUMAN;.	A	359;464;464;464;464;464;280;464;464	ENSP00000421549:G359A;ENSP00000397180:G464A;ENSP00000349389:G464A;ENSP00000423458:G464A;ENSP00000425114:G464A;ENSP00000372857:G464A;ENSP00000411888:G280A;ENSP00000426662:G464A;ENSP00000421851:G464A	ENSP00000349389:G464A	G	+	2	0	NEK11	132372413	0.776000	0.28616	0.306000	0.25113	0.121000	0.20230	0.430000	0.21428	0.793000	0.33875	0.561000	0.74099	GGA		0.498	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		67	142	0	0	0	1	0	67	142				
PCDHB12	56124	broad.mit.edu	37	5	140588711	140588711	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140588711G>T	ENST00000239450.2	+	1	421	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	78	Cadherin 1. {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)			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)			TTTGCAGCTGGACACAAACAC	0.498																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(232-234)Gac>Tac									75.0	83.0	80.0					5																	140588711		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588711G>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.232G>T	5.37:g.140588711G>T	ENSP00000239450:p.Asp78Tyr					PCDHB12_ENST00000541609.1_Intron	p.D78Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	421	+			78			Cadherin 1.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.232G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035949	0.19590	.	.	ENSG00000120328	ENST00000239450	T	0.48522	0.81	4.25	-0.689	0.11313	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69504	0.3118	M	0.92459	3.31	0.80722	D	1	D	0.57571	0.98	D	0.67382	0.951	T	0.72323	-0.4328	9	0.87932	D	0	.	9.2778	0.37709	0.4457:0.0:0.5543:0.0	.	78	Q9Y5F1	PCDBC_HUMAN	Y	78	ENSP00000239450:D78Y	ENSP00000239450:D78Y	D	+	1	0	PCDHB12	140568895	0.000000	0.05858	0.024000	0.17045	0.030000	0.12068	-0.648000	0.05391	0.006000	0.14734	-0.258000	0.10820	GAC		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		52	38	1	0	2.0833e-19	1	2.63915e-19	52	38				
FSCN3	29999	broad.mit.edu	37	7	127238524	127238524	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:127238524C>G	ENST00000265825.5	+	4	1215	c.996C>G	c.(994-996)ccC>ccG	p.P332P	FSCN3_ENST00000420086.2_Silent_p.P198P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	332						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGGCACCCCCTGGAGTCTG	0.557																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(994-996)ccC>ccG		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							82.0	80.0	81.0					7																	127238524		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127238524C>G		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.996C>G	7.37:g.127238524C>G						FSCN3_ENST00000420086.2_Silent_p.P198P	p.P332P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			4	1215	+			332					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.996C>G	CCDS34746.1																																																																																				0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		47	142	0	0	0	1	0	47	142				
PTPRB	5787	broad.mit.edu	37	12	71016365	71016365	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:71016365G>T	ENST00000550358.1	-	3	538	c.513C>A	c.(511-513)ctC>ctA	p.L171L	PTPRB_ENST00000551525.1_Silent_p.L170L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.L171L			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAAGGTAGTGAGAATCTGGG	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(511-513)ctC>ctA		protein tyrosine phosphatase, receptor type, B							44.0	47.0	46.0					12																	71016365		1856	4098	5954	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016365G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.513C>A	12.37:g.71016365G>T						PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.L171L|PTPRB_ENST00000551525.1_Silent_p.L170L	p.L171L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	557	-	Renal(347;0.236)		0			Fibronectin type-III 2.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	37	c.513C>A																																																																																					0.453	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			8	10	1	0	5.4927e-09	1	6.15689e-09	8	10				
PTPRO	5800	broad.mit.edu	37	12	15739956	15739956	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:15739956G>T	ENST00000281171.4	+	24	3711	c.3381G>T	c.(3379-3381)aaG>aaT	p.K1127N	PTPRO_ENST00000542557.1_Missense_Mutation_p.K288N|PTPRO_ENST00000445537.2_Missense_Mutation_p.K316N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K316N|PTPRO_ENST00000544244.1_Missense_Mutation_p.K288N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1099N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1127	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCTACCAAGAGCAAAGGTC	0.443																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3379-3381)aaG>aaT		protein tyrosine phosphatase, receptor type, O							149.0	120.0	130.0					12																	15739956		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15739956G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3381G>T	12.37:g.15739956G>T	ENSP00000281171:p.Lys1127Asn					PTPRO_ENST00000445537.2_Missense_Mutation_p.K316N|PTPRO_ENST00000544244.1_Missense_Mutation_p.K288N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K288N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K316N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1099N	p.K1127N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			24	3711	+		Hepatocellular(102;0.244)	1127			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3381G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258491	0.59321	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.07	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.113098	0.39210	N	0.001426	T	0.05914	0.0154	N	0.03050	-0.425	0.45205	D	0.998212	B;P;P	0.49307	0.032;0.905;0.922	B;B;P	0.44561	0.013;0.324;0.453	T	0.44574	-0.9319	10	0.59425	D	0.04	.	10.9041	0.47069	0.1509:0.0:0.8491:0.0	.	288;1099;1127	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	N	1127;1099;316;288;316;288;106	ENSP00000281171:K1127N;ENSP00000343434:K1099N;ENSP00000404188:K316N;ENSP00000437571:K288N;ENSP00000393449:K316N;ENSP00000439234:K288N;ENSP00000446201:K106N	ENSP00000281171:K1127N	K	+	3	2	PTPRO	15631223	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	2.452000	0.44961	1.358000	0.45922	0.650000	0.86243	AAG		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			41	55	1	0	3.54561e-26	1	4.70599e-26	41	55				
CUX2	23316	broad.mit.edu	37	12	111744770	111744770	+	Missense_Mutation	SNP	G	G	C	rs199624287	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:111744770G>C	ENST00000261726.6	+	11	1058	c.904G>C	c.(904-906)Gcg>Ccg	p.A302P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	302					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A302S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGAGGCCGCGCTGGCCTC	0.637																																						ENST00000261726.6																			1	Substitution - Missense(1)	p.A302S(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(904-906)Gcg>Ccg		cut-like homeobox 2							56.0	62.0	60.0					12																	111744770		1922	4122	6044	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744770G>C	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.904G>C	12.37:g.111744770G>C	ENSP00000261726:p.Ala302Pro						p.A302P	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			11	1058	+			302					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.904G>C	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412949	0.62511	.	.	ENSG00000111249	ENST00000261726	T	0.47528	0.84	5.3	5.3	0.74995	.	0.167084	0.52532	D	0.000074	T	0.64778	0.2629	L	0.59436	1.845	0.43971	D	0.996656	D	0.76494	0.999	D	0.66196	0.942	T	0.63084	-0.6716	10	0.41790	T	0.15	-25.3289	18.5534	0.91073	0.0:0.0:1.0:0.0	.	302	O14529	CUX2_HUMAN	P	302	ENSP00000261726:A302P	ENSP00000261726:A302P	A	+	1	0	CUX2	110229153	0.998000	0.40836	0.567000	0.28434	0.805000	0.45488	4.485000	0.60279	2.483000	0.83821	0.643000	0.83706	GCG		0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		47	59	0	0	0	1	0	47	59				
MIIP	60672	broad.mit.edu	37	1	12091355	12091355	+	Silent	SNP	G	G	A	rs374564368		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12091355G>A	ENST00000235332.4	+	9	1144	c.975G>A	c.(973-975)ccG>ccA	p.P325P	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.R293Q	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	325										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTTTTCCTCCGAAGTCTGAGA	0.607																																						ENST00000436478.2																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(877-879)cGa>cAa		migration and invasion inhibitory protein							43.0	42.0	42.0					1																	12091355		2203	4300	6503	SO:0001819	synonymous_variant	60672							g.chr1:12091355G>A	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.975G>A	1.37:g.12091355G>A						MIIP_ENST00000235332.4_Silent_p.P325P|MIIP_ENST00000466860.1_3'UTR	p.R293Q			Q5JXC2	MIIP_HUMAN			8	980	+			0					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.878G>A	CCDS143.1	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167780	0.21621	.	.	ENSG00000116691	ENST00000436478	T	0.21543	2.0	4.65	-9.3	0.00649	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	6	0.19590	T	0.45	-31.1318	9.7875	0.40686	0.5673:0.3351:0.0976:0.0	.	.	.	.	Q	293	ENSP00000392417:R293Q	ENSP00000392417:R293Q	R	+	2	0	MIIP	12013942	0.000000	0.05858	0.001000	0.08648	0.462000	0.32619	-2.964000	0.00671	-3.751000	0.00111	-1.386000	0.01163	CGA		0.607	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		8	28	0	0	0	1	0	8	28				
RASGRF2	5924	broad.mit.edu	37	5	80256602	80256602	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:80256602G>C	ENST00000265080.4	+	1	112	c.45G>C	c.(43-45)ctG>ctC	p.L15L	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	15					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCTGTACCTGGCCTTTCTGG	0.687																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(43-45)ctG>ctC		Ras protein-specific guanine nucleotide-releasing factor 2							20.0	23.0	22.0					5																	80256602		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80256602G>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.45G>C	5.37:g.80256602G>C						CTC-459I6.1_ENST00000505694.1_RNA	p.L15L	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	1	112	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	15					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.45G>C	CCDS4052.1																																																																																				0.687	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	11	0	0	0	1	0	7	11				
OR52J3	119679	broad.mit.edu	37	11	5067999	5067999	+	Missense_Mutation	SNP	C	C	G	rs201482687		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5067999C>G	ENST00000380370.1	+	1	244	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R82C(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGCCTCGCATGCTGGG	0.498																																						ENST00000380370.1																			1	Substitution - Missense(1)	p.R82C(1)	lung(1)	NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(244-246)Cgc>Ggc		olfactory receptor, family 52, subfamily J, member 3							136.0	115.0	122.0					11																	5067999		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5067999C>G	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.244C>G	11.37:g.5067999C>G	ENSP00000369728:p.Arg82Gly						p.R82G	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	244	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	82					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.244C>G	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595372	0.28445	.	.	ENSG00000205495	ENST00000380370	T	0.03242	4.0	4.19	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.586544	0.14225	N	0.333137	T	0.10380	0.0254	M	0.88842	2.985	0.26821	N	0.968794	P	0.40602	0.723	P	0.46275	0.51	T	0.10359	-1.0633	10	0.87932	D	0	.	4.0566	0.09819	0.2718:0.5346:0.0:0.1936	.	82	Q8NH60	O52J3_HUMAN	G	82	ENSP00000369728:R82G	ENSP00000369728:R82G	R	+	1	0	OR52J3	5024575	0.000000	0.05858	0.511000	0.27724	0.171000	0.22731	-0.099000	0.11007	0.973000	0.38340	-0.122000	0.15005	CGC		0.498	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		4	77	0	0	0	1	0	4	77				
RNF220	55182	broad.mit.edu	37	1	45091998	45091998	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:45091998G>A	ENST00000355387.2	+	5	1284	c.834G>A	c.(832-834)agG>agA	p.R278R	RNF220_ENST00000372247.2_Silent_p.R278R|RNF220_ENST00000443020.2_Silent_p.R39R|RNF220_ENST00000361799.2_Silent_p.R278R			Q5VTB9	RN220_HUMAN	ring finger protein 220	278					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCATCAAGAGGGAAGGAGAGT	0.542																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(832-834)agG>agA		ring finger protein 220							111.0	94.0	100.0					1																	45091998		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45091998G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.834G>A	1.37:g.45091998G>A						RNF220_ENST00000372247.2_Silent_p.R278R|RNF220_ENST00000443020.2_Silent_p.R39R|RNF220_ENST00000361799.2_Silent_p.R278R	p.R278R			Q5VTB9	RN220_HUMAN			5	1284	+			278					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.834G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352383	0.24512	.	.	ENSG00000187147	ENST00000453863	.	.	.	5.32	-0.176	0.13311	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50717	-0.8795	4	.	.	.	.	9.8397	0.40991	0.4674:0.0:0.5326:0.0	.	.	.	.	R	1	.	.	G	+	1	0	RNF220	44864585	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.553000	0.23391	0.077000	0.16863	-0.158000	0.13435	GGA		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		16	32	0	0	0	1	0	16	32				
DRC1	92749	broad.mit.edu	37	2	26663285	26663285	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:26663285C>G	ENST00000288710.2	+	8	1002	c.928C>G	c.(928-930)Cag>Gag	p.Q310E	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	310					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)											AGCAATTTATCAGCTAAACCA	0.368																																						ENST00000288710.2																			0											c.(928-930)Cag>Gag		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							66.0	64.0	65.0					2																	26663285		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26663285C>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.928C>G	2.37:g.26663285C>G	ENSP00000288710:p.Gln310Glu					DRC1_ENST00000483675.1_3'UTR	p.Q310E	NM_145038.2	NP_659475.2					8	1002	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.928C>G	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319968	0.81469	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.19250	2.16	5.17	5.17	0.71159	.	0.132049	0.50627	D	0.000106	T	0.48714	0.1515	M	0.85373	2.75	0.39692	D	0.971068	D	0.76494	0.999	D	0.69307	0.963	T	0.49916	-0.8888	10	0.17369	T	0.5	-33.162	17.8124	0.88620	0.0:1.0:0.0:0.0	.	310	Q96MC2	CC164_HUMAN	E	310;139	ENSP00000288710:Q310E	ENSP00000288710:Q310E	Q	+	1	0	CCDC164	26516789	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	4.506000	0.60428	2.559000	0.86315	0.650000	0.86243	CAG		0.368	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		20	37	0	0	0	1	0	20	37				
GABRQ	55879	broad.mit.edu	37	X	151821659	151821659	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:151821659C>T	ENST00000370306.2	+	9	1834	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	605					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACTACGTCCCAAAGGTCGAC	0.512																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1813-1815)cCa>cTa		gamma-aminobutyric acid (GABA) A receptor, theta							90.0	86.0	87.0					X																	151821659		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821659C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1814C>T	X.37:g.151821659C>T	ENSP00000359329:p.Pro605Leu						p.P605L	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1834	+	Acute lymphoblastic leukemia(192;6.56e-05)		605					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1814C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990184	0.54041	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	D	0.83673	-1.75	5.64	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.226350	0.05669	N	0.588279	D	0.89008	0.6593	L	0.46157	1.445	0.42414	D	0.992612	D	0.89917	1.0	D	0.79784	0.993	T	0.81088	-0.1091	10	0.87932	D	0	.	11.2967	0.49282	0.0:0.6978:0.3022:0.0	.	605	Q9UN88	GBRT_HUMAN	L	605;130	ENSP00000359329:P605L	ENSP00000331410:P130L	P	+	2	0	GABRQ	151572315	0.986000	0.35501	0.648000	0.29521	0.336000	0.28762	2.237000	0.43061	2.509000	0.84616	0.529000	0.55759	CCA		0.512	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		41	25	0	0	0	1	0	41	25				
OR1J4	26219	broad.mit.edu	37	9	125281913	125281913	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125281913A>C	ENST00000340750.1	+	1	494	c.494A>C	c.(493-495)cAg>cCg	p.Q165P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTCCTGGCCCAGCTGTCCTTT	0.502																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(493-495)cAg>cCg		olfactory receptor, family 1, subfamily J, member 4							176.0	143.0	154.0					9																	125281913		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281913A>C	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.494A>C	9.37:g.125281913A>C	ENSP00000343521:p.Gln165Pro						p.Q165P	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	494	+			165					A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.494A>C	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	A	4.266	0.048370	0.08243	.	.	ENSG00000239590	ENST00000340750	T	0.00048	8.82	5.54	-9.81	0.00487	GPCR, rhodopsin-like superfamily (1);	0.598092	0.12614	U	0.453630	T	0.00144	0.0004	M	0.64997	1.995	0.09310	N	1	B	0.17852	0.024	B	0.24394	0.053	T	0.38542	-0.9656	10	0.59425	D	0.04	.	13.4343	0.61076	0.2719:0.1699:0.5582:0.0	.	165	Q8NGS1	OR1J4_HUMAN	P	165	ENSP00000343521:Q165P	ENSP00000343521:Q165P	Q	+	2	0	OR1J4	124321734	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.095000	0.00607	-1.915000	0.01077	-1.308000	0.01314	CAG		0.502	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			38	74	0	0	0	1	0	38	74				
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821|rs386802916	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:44561321G>C	ENST00000332567.4	-	1	667	c.315C>G	c.(313-315)gaC>gaG	p.D105E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	105					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D105E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTTTCCTGGTCCTGAAGAG	0.662													G|||	22	0.00439297	0.0015	0.0029	5008	,	,		14508	0.001		0.008	False		,,,				2504	0.0092					ENST00000332567.4																			1	Substitution - Missense(1)	p.D105E(1)	cervix(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(313-315)gaC>gaG		transcription elongation factor B polypeptide 3B (elongin A2)		G	GLU/ASP,	6,4394		0,6,2194	45.0	51.0	49.0		315,	-4.9	0.0	18	dbSNP_134	49	15,8579		0,15,4282	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	45,	0,21,6476	CC,CG,GG		0.1745,0.1364,0.1616	benign,	105/754,	44561321	21,12973	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561321G>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.315C>G	18.37:g.44561321G>C	ENSP00000331302:p.Asp105Glu					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	p.D105E	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	667	-			105					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.315C>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417095	0.04766	0.001364	0.001745	ENSG00000206181	ENST00000332567	T	0.06449	3.3	2.46	-4.92	0.03075	.	0.857574	0.09467	N	0.798210	T	0.02047	0.0064	N	0.04959	-0.14	0.09310	N	1	B	0.22080	0.064	B	0.26310	0.068	T	0.37407	-0.9707	10	0.02654	T	1	0.6963	2.5809	0.04818	0.1066:0.3716:0.1472:0.3745	.	105	Q8IYF1	ELOA2_HUMAN	E	105	ENSP00000331302:D105E	ENSP00000331302:D105E	D	-	3	2	TCEB3B	42815319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.447000	0.06828	-2.660000	0.00419	-0.311000	0.09066	GAC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		69	57	0	0	0	1	0	69	57				
USP8	9101	broad.mit.edu	37	15	50784949	50784949	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50784949T>A	ENST00000396444.3	+	15	2624	c.2286T>A	c.(2284-2286)atT>atA	p.I762I	USP8_ENST00000307179.4_Silent_p.I762I|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.I656I|USP8_ENST00000433963.1_Silent_p.I762I	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	762					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTCTCAGATTCGGAACCTCA	0.398																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2284-2286)atT>atA		ubiquitin specific peptidase 8							133.0	121.0	125.0					15																	50784949		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50784949T>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2286T>A	15.37:g.50784949T>A						USP8_ENST00000396444.3_Silent_p.I762I|USP8_ENST00000425032.3_Silent_p.I656I|USP8_ENST00000307179.4_Silent_p.I762I	p.I762I	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	16	2786	+			762					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2286T>A	CCDS10137.1																																																																																				0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		23	77	0	0	0	1	0	23	77				
TRIM36	55521	broad.mit.edu	37	5	114483091	114483091	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:114483091C>A	ENST00000282369.3	-	3	420	c.299G>T	c.(298-300)gGc>gTc	p.G100V	TRIM36_ENST00000513154.1_Splice_Site_p.G88V|TRIM36_ENST00000514154.1_5'UTR|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	100					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCGCTTCCAGCCTGTGTAATT	0.408																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.e3-1		tripartite motif containing 36							107.0	92.0	97.0					5																	114483091		2202	4300	6502	SO:0001630	splice_region_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114483091C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.299-1G>T	5.37:g.114483091C>A						TRIM36_ENST00000282369.3_Splice_Site_p.G100_splice|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000515104.1_5'UTR	p.G88_splice			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	3	589	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	100					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Splice_Site	SNP	ENST00000282369.3	37	c.262_splice	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195596	0.58126	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87729	-2.29;-2.29;-2.29	5.34	5.34	0.76211	Zinc finger, RING-type (1);	0.055195	0.64402	D	0.000001	D	0.92519	0.7624	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93003	0.6425	10	0.72032	D	0.01	.	19.0542	0.93056	0.0:1.0:0.0:0.0	.	88;100	E9PFI8;Q9NQ86	.;TRI36_HUMAN	V	100;88;98	ENSP00000282369:G100V;ENSP00000423934:G88V;ENSP00000424743:G98V	ENSP00000282369:G100V	G	-	2	0	TRIM36	114510990	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.288000	0.78691	2.475000	0.83589	0.591000	0.81541	GGC		0.408	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	Missense_Mutation	29	28	1	0	5.45727e-16	1	6.69547e-16	29	28				
NAGPA	51172	broad.mit.edu	37	16	5077278	5077278	+	Splice_Site	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:5077278C>T	ENST00000312251.3	-	8	1296		c.e8+1		NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGGATAGGTACCTCTGGAGAC	0.607																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.e8+1		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						56.0	58.0	57.0					16																	5077278		2197	4300	6497	SO:0001630	splice_region_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5077278C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1276+1G>A	16.37:g.5077278C>T						NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA		NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			8	1296	-								B2RAS1|Q96EJ8	Splice_Site	SNP	ENST00000312251.3	37		CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387939	0.25118	.	.	ENSG00000103174	ENST00000312251	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4028	0.67060	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAGPA	5017279	0.707000	0.27866	0.909000	0.35828	0.012000	0.07955	0.992000	0.29667	2.465000	0.83290	0.655000	0.94253	.		0.607	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256	Intron	16	29	0	0	0	1	0	16	29				
HINT3	135114	broad.mit.edu	37	6	126293443	126293443	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:126293443A>G	ENST00000229633.5	+	3	555	c.358A>G	c.(358-360)Aga>Gga	p.R120G		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	120	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CATTCTTGAAAGAAATAATTT	0.333																																						ENST00000229633.5																			0				endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4						c.(358-360)Aga>Gga		histidine triad nucleotide binding protein 3							135.0	136.0	136.0					6																	126293443		2203	4300	6503	SO:0001583	missense	135114					mitochondrion|nucleolus	hydrolase activity	g.chr6:126293443A>G	AK057688	CCDS5133.1	6q22.33	2007-12-04			ENSG00000111911	ENSG00000111911			18468	protein-coding gene	gene with protein product		609998				11805111	Standard	NM_138571		Approved	FLJ33126	uc003qal.4	Q9NQE9	OTTHUMG00000015514	ENST00000229633.5:c.358A>G	6.37:g.126293443A>G	ENSP00000229633:p.Arg120Gly						p.R120G	NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)	3	555	+			120			HIT.		B3KQ91|Q8N0Y9	Missense_Mutation	SNP	ENST00000229633.5	37	c.358A>G	CCDS5133.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.546150	0.45383	.	.	ENSG00000111911	ENST00000229633	D	0.91945	-2.94	5.79	3.23	0.37069	Histidine triad motif (1);Histidine triad-like motif (1);	0.540943	0.20618	N	0.088831	D	0.84920	0.5579	L	0.61387	1.9	0.30903	N	0.729104	B	0.09022	0.002	B	0.18263	0.021	T	0.80808	-0.1217	10	0.56958	D	0.05	-25.9278	13.0416	0.58901	0.6872:0.3128:0.0:0.0	.	120	Q9NQE9	HINT3_HUMAN	G	120	ENSP00000229633:R120G	ENSP00000229633:R120G	R	+	1	2	HINT3	126335136	0.683000	0.27633	0.997000	0.53966	0.913000	0.54294	1.017000	0.29989	0.998000	0.38996	-0.466000	0.05196	AGA		0.333	HINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042090.1	NM_138571		32	55	0	0	0	1	0	32	55				
SPTA1	6708	broad.mit.edu	37	1	158641151	158641151	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158641151G>A	ENST00000368147.4	-	12	1761	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	527					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)			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)					TCTCTTCCTGGGCAGTAAAGG	0.468																																						ENST00000368148.3																			0				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						c.(1579-1581)gcC>gcT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							103.0	98.0	99.0					1																	158641151		1849	4092	5941	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.chr1:158641151G>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.1581C>T	1.37:g.158641151G>A						SPTA1_ENST00000368147.3_Silent_p.A527A	p.A527A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			12	1761	-	all_hematologic(112;0.0378)		527					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1581C>T	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		38	36	0	0	0	1	0	38	36				
TG	7038	broad.mit.edu	37	8	133905937	133905937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133905937C>T	ENST00000220616.4	+	11	2804	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	TG_ENST00000377869.1_Missense_Mutation_p.P922S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	922	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P922T(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCCCTAGGTCCTGGCTCCTG	0.512																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.P922T(1)	lung(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2764-2766)Cct>Tct		thyroglobulin							129.0	100.0	110.0					8																	133905937		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133905937C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2764C>T	8.37:g.133905937C>T	ENSP00000220616:p.Pro922Ser					TG_ENST00000377869.1_Missense_Mutation_p.P922S	p.P922S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2804	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	922			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2764C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	c	17.80	3.477742	0.63849	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62639	0.01;0.01	5.14	5.14	0.70334	Thyroglobulin type-1 (2);	0.000000	0.64402	D	0.000014	T	0.60366	0.2263	L	0.49126	1.545	0.43678	D	0.996119	P	0.37500	0.597	B	0.37650	0.255	T	0.66122	-0.6002	10	0.72032	D	0.01	.	17.2206	0.86956	0.0:1.0:0.0:0.0	.	922	P01266	THYG_HUMAN	S	922	ENSP00000367100:P922S;ENSP00000220616:P922S	ENSP00000220616:P922S	P	+	1	0	TG	133975119	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.799000	0.55529	2.409000	0.81822	0.380000	0.24917	CCT		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	86	0	0	0	1	0	7	86				
ABCB5	340273	broad.mit.edu	37	7	20683156	20683156	+	Silent	SNP	G	G	C	rs200714278	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:20683156G>C	ENST00000404938.2	+	7	1231	c.579G>C	c.(577-579)tcG>tcC	p.S193S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	193	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTACTTTTTCGATTGGCCTGG	0.428																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(577-579)tcG>tcC		ATP-binding cassette, sub-family B (MDR/TAP), member 5							187.0	163.0	170.0					7																	20683156		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20683156G>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.579G>C	7.37:g.20683156G>C							p.S193S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			7	1231	+			379					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.579G>C	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		27	61	0	0	0	1	0	27	61				
PLEKHG4B	153478	broad.mit.edu	37	5	181715	181715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:181715G>A	ENST00000283426.6	+	17	3471	c.3421G>A	c.(3421-3423)Gca>Aca	p.A1141T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1141							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCTGACTGTGCAGTGATAAG	0.562																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3421-3423)Gca>Aca		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							116.0	111.0	113.0					5																	181715		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:181715G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3421G>A	5.37:g.181715G>A	ENSP00000283426:p.Ala1141Thr						p.A1141T	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	17	3471	+			1141						Missense_Mutation	SNP	ENST00000283426.6	37	c.3421G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	3.437	-0.114908	0.06881	.	.	ENSG00000153404	ENST00000283426	T	0.35973	1.28	3.21	2.31	0.28768	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.23076	N	0.998331	B	0.16166	0.016	B	0.17433	0.018	T	0.19877	-1.0292	9	0.44086	T	0.13	.	10.6963	0.45901	0.1167:0.0:0.8833:0.0	.	1141	Q96PX9	PKH4B_HUMAN	T	1141	ENSP00000283426:A1141T	ENSP00000283426:A1141T	A	+	1	0	PLEKHG4B	234715	.	.	0.001000	0.08648	0.017000	0.09413	.	.	-0.028000	0.13850	-1.076000	0.02234	GCA		0.562	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		36	84	0	0	0	1	0	36	84				
MBD6	114785	broad.mit.edu	37	12	57920648	57920648	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57920648G>A	ENST00000355673.3	+	7	2076	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MBD6_ENST00000431731.2_Missense_Mutation_p.E574K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	574	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACCTCCCCCTGAGCCCCTGCT	0.617																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1720-1722)Gag>Aag		methyl-CpG binding domain protein 6							75.0	69.0	71.0					12																	57920648		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920648G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1720G>A	12.37:g.57920648G>A	ENSP00000347896:p.Glu574Lys					MBD6_ENST00000431731.2_Missense_Mutation_p.E574K	p.E574K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			7	2076	+			574			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1720G>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333162	0.41297	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.07	4.07	0.47477	.	0.273168	0.25804	N	0.028181	T	0.33089	0.0851	N	0.08118	0	0.28754	N	0.901292	D;P	0.56035	0.974;0.928	D;P	0.67725	0.953;0.771	T	0.07927	-1.0747	9	0.40728	T	0.16	-5.37	7.8683	0.29549	0.112:0.0:0.888:0.0	.	574;574	Q6P0P0;Q96DN6	.;MBD6_HUMAN	K	574;574;38	.	ENSP00000300263:E38K	E	+	1	0	MBD6	56206915	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.162000	0.58177	2.283000	0.76528	0.561000	0.74099	GAG		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			11	52	0	0	0	1	0	11	52				
SNAPC2	6618	broad.mit.edu	37	19	7987009	7987009	+	Silent	SNP	G	G	C	rs75251458	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:7987009G>C	ENST00000221573.6	+	4	513	c.462G>C	c.(460-462)ctG>ctC	p.L154L	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	154					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTTTGCTCCTGAGCGCCCCTG	0.672																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(460-462)ctG>ctC		small nuclear RNA activating complex, polypeptide 2, 45kDa							89.0	99.0	96.0					19																	7987009		2203	4300	6503	SO:0001819	synonymous_variant	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987009G>C	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.462G>C	19.37:g.7987009G>C						SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	p.L154L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	513	+			154					B2RBZ6|D6W663|Q13486	Silent	SNP	ENST00000221573.6	37	c.462G>C	CCDS12190.1																																																																																				0.672	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		14	126	0	0	0	1	0	14	126				
CMIP	80790	broad.mit.edu	37	16	81726769	81726769	+	Silent	SNP	C	C	T	rs368168220		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:81726769C>T	ENST00000537098.3	+	12	1533	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L334L|CMIP_ENST00000539778.2_Silent_p.L393L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	487						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCAGAGCTCTCGCACATGAGA	0.542																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1459-1461)ctC>ctT		c-Maf inducing protein		C	,	1,4057		0,1,2028	90.0	91.0	91.0		1179,1461	2.3	1.0	16		91	0,8370		0,0,4185	no	coding-synonymous,coding-synonymous	CMIP	NM_030629.2,NM_198390.2	,	0,1,6213	TT,TC,CC		0.0,0.0246,0.0080	,	393/680,487/774	81726769	1,12427	2029	4185	6214	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81726769C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1461C>T	16.37:g.81726769C>T						CMIP_ENST00000398040.4_Silent_p.L334L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.L393L	p.L487L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			12	1533	+			453					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.1461C>T	CCDS54044.1																																																																																				0.542	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		15	19	0	0	0	1	0	15	19				
LRP1B	53353	broad.mit.edu	37	2	142004915	142004915	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:142004915C>T	ENST00000389484.3	-	5	1443	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	158	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCACATTCATCTTGATCT	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(472-474)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							158.0	147.0	151.0					2																	142004915		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004915C>T	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.472G>A	2.37:g.142004915C>T	ENSP00000374135:p.Glu158Lys	TSP Lung(27;0.18)					p.E158K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1443	-		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)	158			EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.472G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702839	0.96812	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.85702	-2.02	5.68	5.68	0.88126	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95753	0.8793	10	0.72032	D	0.01	.	20.1615	0.98135	0.0:1.0:0.0:0.0	.	158	Q9NZR2	LRP1B_HUMAN	K	158;96	ENSP00000374135:E158K	ENSP00000374135:E158K	E	-	1	0	LRP1B	141721385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.679000	0.84048	2.835000	0.97688	0.650000	0.86243	GAA		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	78	0	0	0	1	0	42	78				
HDAC11	79885	broad.mit.edu	37	3	13545693	13545693	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13545693T>A	ENST00000295757.3	+	9	932	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	HDAC11_ENST00000402259.1_Missense_Mutation_p.L84Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.C90S|HDAC11_ENST00000404548.1_Missense_Mutation_p.C118S|HDAC11_ENST00000433119.1_Missense_Mutation_p.C208S|HDAC11_ENST00000437379.2_Missense_Mutation_p.L222Q|HDAC11_ENST00000522202.1_Missense_Mutation_p.L199Q|HDAC11_ENST00000446613.2_Missense_Mutation_p.L58Q|HDAC11_ENST00000402271.1_Missense_Mutation_p.L171Q|HDAC11_ENST00000404040.1_Missense_Mutation_p.L150Q	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	250	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGGAGCACCTGCCCGACGTG	0.617																																						ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(748-750)cTg>cAg		histone deacetylase 11							93.0	84.0	87.0					3																	13545693		2203	4300	6503	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13545693T>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.749T>A	3.37:g.13545693T>A	ENSP00000295757:p.Leu250Gln					HDAC11_ENST00000404548.1_Missense_Mutation_p.C118S|HDAC11_ENST00000404040.1_Missense_Mutation_p.L150Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.C90S|HDAC11_ENST00000522202.1_Missense_Mutation_p.L199Q|HDAC11_ENST00000402259.1_Missense_Mutation_p.L84Q|HDAC11_ENST00000437379.2_Missense_Mutation_p.L222Q|HDAC11_ENST00000402271.1_Missense_Mutation_p.L171Q|HDAC11_ENST00000446613.2_Missense_Mutation_p.L58Q|HDAC11_ENST00000433119.1_Missense_Mutation_p.C208S	p.L250Q	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			9	932	+			250			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.749T>A	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.366|4.366	0.067457|0.067457	0.08388|0.08388	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000433119;ENST00000404548;ENST00000405025|ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000522202;ENST00000437379	.|T;T;T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.65|5.65	-11.3|-11.3	0.00108|0.00108	.|Histone deacetylase domain (2);	.|1.257060	.|0.05397	.|N	.|0.540043	T|T	0.20333|0.20333	0.0489|0.0489	N|N	0.00219|0.00219	-1.825|-1.825	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.06786	0.0|0.0;0.001	B|B;B	0.01281|0.06405	0.0|0.002;0.002	T|T	0.41538|0.41538	-0.9503|-0.9503	8|10	0.87932|0.87932	D|D	0|0	0.2368|0.2368	2.81|2.81	0.05439|0.05439	0.1795:0.0864:0.3606:0.3734|0.1795:0.0864:0.3606:0.3734	.|.	208|199;250	Q658J9|B4DDK1;Q96DB2	.|.;HDA11_HUMAN	S|Q	208;118;90|250;84;171;58;150;199;222	.|ENSP00000295757:L250Q;ENSP00000384706:L84Q;ENSP00000384123:L171Q;ENSP00000401487:L58Q;ENSP00000385475:L150Q;ENSP00000429794:L199Q;ENSP00000395188:L222Q	ENSP00000385528:C118S|ENSP00000295757:L250Q	C|L	+|+	1|2	0|0	HDAC11|HDAC11	13520693|13520693	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.377000|0.377000	0.30045|0.30045	-1.862000|-1.862000	0.01653|0.01653	-1.161000|-1.161000	0.02800|0.02800	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.617	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		12	22	0	0	0	1	0	12	22				
OR10G8	219869	broad.mit.edu	37	11	123901010	123901010	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123901010C>G	ENST00000431524.1	+	1	714	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	227						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGCGGATCCGCACCTCAG	0.522																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(679-681)atC>atG		olfactory receptor, family 10, subfamily G, member 8							169.0	145.0	153.0					11																	123901010		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901010C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.681C>G	11.37:g.123901010C>G	ENSP00000389072:p.Ile227Met						p.I227M	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	714	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	227					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.681C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	6.471	0.455032	0.12283	.	.	ENSG00000234560	ENST00000431524	T	0.00241	8.46	2.91	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.125962	0.35970	N	0.002868	T	0.00271	0.0008	L	0.31752	0.955	0.24660	N	0.993473	D	0.89917	1.0	D	0.97110	1.0	T	0.56938	-0.7896	10	0.36615	T	0.2	.	7.3891	0.26899	0.0:0.7259:0.1684:0.1056	.	227	Q8NGN5	O10G8_HUMAN	M	227	ENSP00000389072:I227M	ENSP00000389072:I227M	I	+	3	3	OR10G8	123406220	0.353000	0.24904	0.905000	0.35620	0.023000	0.10783	1.205000	0.32308	0.501000	0.28013	0.557000	0.71058	ATC		0.522	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		42	74	0	0	0	1	0	42	74				
CLEC1B	51266	broad.mit.edu	37	12	10145826	10145826	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10145826T>A	ENST00000298527.6	-	6	785	c.606A>T	c.(604-606)aaA>aaT	p.K202N	CLEC1B_ENST00000428126.2_Missense_Mutation_p.K169N|CLEC1B_ENST00000348658.4_Missense_Mutation_p.K169N	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TAGGGTGCATTTTCCCATTAT	0.378																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(505-507)aaA>aaT		C-type lectin domain family 1, member B							161.0	146.0	151.0					12																	10145826		1866	4097	5963	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145826T>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.606A>T	12.37:g.10145826T>A	ENSP00000298527:p.Lys202Asn					CLEC1B_ENST00000298527.6_Missense_Mutation_p.K202N|CLEC1B_ENST00000348658.4_Missense_Mutation_p.K169N	p.K169N			Q9P126	CLC1B_HUMAN			7	776	-			202			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.507A>T	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522079	0.27211	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T	0.18338	2.22;2.22;2.22	4.47	3.3	0.37823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47455	D	0.000234	T	0.11836	0.0288	L	0.35854	1.095	0.32708	N	0.511986	B;B	0.34241	0.389;0.444	B;B	0.34418	0.114;0.182	T	0.21348	-1.0248	10	0.16420	T	0.52	.	8.0456	0.30547	0.0:0.0:0.2067:0.7933	.	169;202	Q9P126-2;Q9P126	.;CLC1B_HUMAN	N	169;202;169;111	ENSP00000406338:K169N;ENSP00000298527:K202N;ENSP00000327169:K169N	ENSP00000298527:K202N	K	-	3	2	CLEC1B	10037093	1.000000	0.71417	0.963000	0.40424	0.887000	0.51463	0.876000	0.28092	0.541000	0.28827	0.402000	0.26972	AAA		0.378	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		87	107	0	0	0	1	0	87	107				
ADAMTS20	80070	broad.mit.edu	37	12	43777746	43777746	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777746C>A	ENST00000389420.3	-	30	4486	c.4487G>T	c.(4486-4488)aGg>aTg	p.R1496M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTATACATCCCTCTGCTGAAC	0.443																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4486-4488)aGg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							88.0	73.0	78.0					12																	43777746		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777746C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4487G>T	12.37:g.43777746C>A	ENSP00000374071:p.Arg1496Met						p.R1496M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4486	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1496			TSP type-1 12.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4487G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096933	0.76870	.	.	ENSG00000173157	ENST00000389420	T	0.80909	-1.43	4.25	4.25	0.50352	.	0.213342	0.29293	N	0.012574	D	0.94095	0.8107	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96451	0.9334	10	0.87932	D	0	.	17.9573	0.89073	0.0:1.0:0.0:0.0	.	1496	P59510	ATS20_HUMAN	M	1496	ENSP00000374071:R1496M	ENSP00000374071:R1496M	R	-	2	0	ADAMTS20	42064013	1.000000	0.71417	0.910000	0.35882	0.920000	0.55202	6.073000	0.71245	2.650000	0.89964	0.655000	0.94253	AGG		0.443	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		30	26	1	0	1.22384e-17	1	1.52718e-17	30	26				
DCHS1	8642	broad.mit.edu	37	11	6651059	6651059	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6651059G>C	ENST00000299441.3	-	11	5290	c.4879C>G	c.(4879-4881)Ccg>Gcg	p.P1627A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1627	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGCGGCGGGGAGCCGTGG	0.652																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4879-4881)Ccg>Gcg		dachsous cadherin-related 1							44.0	44.0	44.0					11																	6651059		2200	4296	6496	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651059G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4879C>G	11.37:g.6651059G>C	ENSP00000299441:p.Pro1627Ala						p.P1627A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5290	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1627			Cadherin 15.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4879C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387758	0.61956	.	.	ENSG00000166341	ENST00000299441	T	0.01647	4.71	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.48286	D	0.000199	T	0.15522	0.0374	H	0.94264	3.515	0.80722	D	1	D	0.67145	0.996	D	0.69654	0.965	T	0.06197	-1.0840	10	0.33940	T	0.23	.	17.6846	0.88253	0.0:0.0:1.0:0.0	.	1627	Q96JQ0	PCD16_HUMAN	A	1627	ENSP00000299441:P1627A	ENSP00000299441:P1627A	P	-	1	0	DCHS1	6607635	1.000000	0.71417	0.968000	0.41197	0.021000	0.10359	7.444000	0.80532	2.668000	0.90789	0.563000	0.77884	CCG		0.652	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		21	28	0	0	0	1	0	21	28				
BAZ2B	29994	broad.mit.edu	37	2	160287558	160287558	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:160287558C>A	ENST00000392783.2	-	10	2505	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTCAGTTTCATTGAAGTTT	0.408																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(2008-2010)atG>atT		bromodomain adjacent to zinc finger domain, 2B							219.0	205.0	210.0					2																	160287558		1901	4108	6009	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287558C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2010G>T	2.37:g.160287558C>A	ENSP00000376534:p.Met670Ile					BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670I|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668I	p.M670I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2505	-			670					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.2010G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246362	0.22796	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.28454	1.61;2.01;1.61	5.74	4.87	0.63330	.	0.161204	0.28409	U	0.015455	T	0.15652	0.0377	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.09314	-1.0680	10	0.13108	T	0.6	-1.5308	8.1983	0.31409	0.2701:0.658:0.0:0.0719	.	474;668;670	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	I	668;670;670	ENSP00000376533:M668I;ENSP00000376534:M670I;ENSP00000348087:M670I	ENSP00000348087:M670I	M	-	3	0	BAZ2B	159995804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.396000	0.34531	1.434000	0.47414	0.643000	0.83706	ATG		0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			16	109	1	0	4.7546e-09	1	5.3604e-09	16	109				
DDX54	79039	broad.mit.edu	37	12	113617090	113617090	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113617090C>T	ENST00000306014.5	-	4	449	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	DDX54_ENST00000314045.7_Missense_Mutation_p.R141Q|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTGCCCGTCCGGGCCATGGC	0.642																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(421-423)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							43.0	40.0	41.0					12																	113617090		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113617090C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.422G>A	12.37:g.113617090C>T	ENSP00000304072:p.Arg141Gln					DDX54_ENST00000306014.5_Missense_Mutation_p.R141Q	p.R141Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			4	449	-			141			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.422G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829884	0.96996	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.38887	1.11;1.11;1.11	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.59032	-0.7530	10	0.87932	D	0	.	18.963	0.92684	0.0:1.0:0.0:0.0	.	141;141	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Q	141;141;58	ENSP00000323858:R141Q;ENSP00000304072:R141Q;ENSP00000448477:R58Q	ENSP00000304072:R141Q	R	-	2	0	DDX54	112101473	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	7.713000	0.84693	2.573000	0.86826	0.462000	0.41574	CGG		0.642	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		18	13	0	0	0	1	0	18	13				
NFKBIZ	64332	broad.mit.edu	37	3	101572575	101572575	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:101572575C>G	ENST00000326172.5	+	5	1320	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	NFKBIZ_ENST00000394054.2_Nonsense_Mutation_p.S302*|NFKBIZ_ENST00000326151.5_Nonsense_Mutation_p.S280*	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	402					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTGCCATTCTCAAACATGGGA	0.498																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1204-1206)tCa>tGa		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							72.0	73.0	73.0					3																	101572575		2203	4300	6503	SO:0001587	stop_gained	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572575C>G	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1205C>G	3.37:g.101572575C>G	ENSP00000325663:p.Ser402*					NFKBIZ_ENST00000394054.2_Nonsense_Mutation_p.S302*|NFKBIZ_ENST00000326151.5_Nonsense_Mutation_p.S280*	p.S402*	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1320	+			402					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Nonsense_Mutation	SNP	ENST00000326172.5	37	c.1205C>G	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359210	0.24598	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.	.	.	5.65	-5.13	0.02884	.	2.265890	0.03531	U	0.222412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.7726	7.7905	0.29116	0.3833:0.4737:0.0567:0.0863	.	.	.	.	X	302;302;280;402	.	ENSP00000325593:S280X	S	+	2	0	NFKBIZ	103055265	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.038000	0.13862	-0.764000	0.04651	-0.457000	0.05445	TCA		0.498	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		10	83	0	0	0	1	0	10	83				
OR4M2	390538	broad.mit.edu	37	15	22369133	22369133	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:22369133G>T	ENST00000332663.2	+	1	656	c.558G>T	c.(556-558)cgG>cgT	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R186R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGTTGTCCGGATTGCCTGTG	0.458																																						ENST00000332663.2																			1	Substitution - coding silent(1)	p.R186R(1)	lung(1)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(556-558)cgG>cgT		olfactory receptor, family 4, subfamily M, member 2							289.0	212.0	238.0					15																	22369133		2203	4297	6500	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369133G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.558G>T	15.37:g.22369133G>T						RP11-69H14.6_ENST00000558896.1_RNA	p.R186R	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	656	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	186					B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.558G>T	CCDS32172.1																																																																																				0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			54	221	1	0	1.34159e-35	1	1.84351e-35	54	221				
CEP68	23177	broad.mit.edu	37	2	65300160	65300160	+	Intron	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:65300160C>T	ENST00000377990.2	+	3	2087				CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_Missense_Mutation_p.L256F|CEP68_ENST00000497039.1_Intron|CEP68_ENST00000546106.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa						centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGTCTTGTCTCTTCCCCCA	0.433																																						ENST00000537589.1																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(766-768)Ctc>Ttc		centrosomal protein 68kDa							29.0	31.0	30.0					2																	65300160		2009	4161	6170	SO:0001627	intron_variant	23177				centrosome organization	centrosome		g.chr2:65300160C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1884+46C>T	2.37:g.65300160C>T						CEP68_ENST00000497039.1_Intron|CEP68_ENST00000546106.1_Intron|CEP68_ENST00000377990.2_Intron|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron	p.L256F			Q76N32	CEP68_HUMAN			2	1646	+			0					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.766C>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037926	0.54896	.	.	ENSG00000011523	ENST00000537589	T	0.29917	1.55	4.54	-4.51	0.03483	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	7	.	.	.	.	0.0422	0.00009	0.2644:0.2252:0.1993:0.311	.	644	Q05C09	.	F	256	ENSP00000443357:L256F	.	L	+	1	0	CEP68	65153664	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.607000	0.05648	-1.318000	0.02289	0.561000	0.74099	CTC		0.433	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		9	22	0	0	0	1	0	9	22				
GH2	2689	broad.mit.edu	37	17	61958213	61958213	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:61958213G>T	ENST00000423893.2	-	4	436	c.375C>A	c.(373-375)aaC>aaA	p.N125K	GH2_ENST00000332800.7_Missense_Mutation_p.N125K|GH2_ENST00000456543.2_Missense_Mutation_p.N125K|GH2_ENST00000449787.2_Missense_Mutation_p.N110K			P01242	SOM2_HUMAN	growth hormone 2	125					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.N125K(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACACCAGGCTGTTGGCGAAGA	0.617																																						ENST00000332800.7																			1	Substitution - Missense(1)	p.N125K(1)	upper_aerodigestive_tract(1)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(373-375)aaC>aaA		growth hormone 2							62.0	62.0	62.0					17																	61958213		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958213G>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.375C>A	17.37:g.61958213G>T	ENSP00000409294:p.Asn125Lys					GH2_ENST00000456543.2_Missense_Mutation_p.N125K|GH2_ENST00000449787.2_Missense_Mutation_p.N110K|GH2_ENST00000423893.2_Missense_Mutation_p.N125K	p.N125K	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			4	508	-			125					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.375C>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	13.52	2.260886	0.39995	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.88975	-2.45;-2.45;-2.22;-2.22	3.1	3.1	0.35709	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.237817	0.40554	N	0.001063	D	0.93618	0.7962	M	0.79693	2.465	0.45183	D	0.99819	D;D;D;D;D	0.76494	0.999;0.999;0.988;0.999;0.999	D;D;P;D;D	0.85130	0.989;0.994;0.87;0.997;0.989	D	0.94013	0.7286	10	0.72032	D	0.01	.	12.0657	0.53586	0.0:0.0:1.0:0.0	.	125;110;125;125;125	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	K	125;125;125;110	ENSP00000333157:N125K;ENSP00000394122:N125K;ENSP00000409294:N125K;ENSP00000410618:N110K	ENSP00000333157:N125K	N	-	3	2	GH2	59311945	1.000000	0.71417	0.999000	0.59377	0.019000	0.09904	1.697000	0.37784	1.733000	0.51620	0.485000	0.47835	AAC		0.617	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		99	57	1	0	1.07111e-62	1	1.48935e-62	99	57				
CNTNAP3	79937	broad.mit.edu	37	9	39178284	39178284	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:39178284T>C	ENST00000297668.6	-	5	685	c.612A>G	c.(610-612)atA>atG	p.I204M	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I204M|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I204M|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I204M|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I116M|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	204	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAACGTCTCTTATTGGTTTTA	0.328																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(610-612)atA>atG		contactin associated protein-like 3							82.0	91.0	88.0					9																	39178284		2202	4292	6494	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39178284T>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.612A>G	9.37:g.39178284T>C	ENSP00000297668:p.Ile204Met					CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I204M|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I116M|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I204M|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I204M	p.I204M	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	685	-			204			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.612A>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	T	0.532	-0.857515	0.02630	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	3.16	-2.72	0.05968	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);	.	.	.	.	T	0.61400	0.2344	L	0.38531	1.155	0.09310	N	0.999998	B;B;B;B;B	0.26635	0.155;0.032;0.049;0.088;0.032	B;B;B;B;B	0.29862	0.108;0.025;0.015;0.07;0.017	T	0.49447	-0.8939	9	0.35671	T	0.21	.	1.123	0.01728	0.1446:0.2925:0.2737:0.2891	.	204;204;204;204;204	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	M	204;204;116;204;204;116	ENSP00000297668:I204M;ENSP00000366884:I204M;ENSP00000350863:I116M;ENSP00000320728:I204M;ENSP00000366887:I204M	ENSP00000297668:I204M	I	-	3	3	CNTNAP3	39168284	0.005000	0.15991	0.001000	0.08648	0.033000	0.12548	-0.021000	0.12504	-0.734000	0.04843	-0.371000	0.07208	ATA		0.328	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	181	0	0	0	1	0	4	181				
TUBB4B	10383	broad.mit.edu	37	9	140137000	140137000	+	Silent	SNP	G	G	A	rs148569376		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:140137000G>A	ENST00000340384.4	+	4	478	c.330G>A	c.(328-330)gcG>gcA	p.A110A		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	110					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CAGAAGGCGCGGAGCTGGTGG	0.582																																						ENST00000340384.4																			0											c.(328-330)gcG>gcA		tubulin, beta 4B class IVb		G		0,4406		0,0,2203	74.0	75.0	75.0		330	-10.1	0.0	9	dbSNP_134	75	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TUBB2C	NM_006088.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		110/446	140137000	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137000G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.330G>A	9.37:g.140137000G>A							p.A110A	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	478	+			110					A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	c.330G>A	CCDS7039.1																																																																																				0.582	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		20	49	0	0	0	1	0	20	49				
SLC39A12	221074	broad.mit.edu	37	10	18242118	18242118	+	Splice_Site	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:18242118A>T	ENST00000377369.2	+	2	187		c.e2-1		SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000377374.4_Splice_Site	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCTTTACCACAGAAATTCCTT	0.433																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.e2-1		solute carrier family 39 (zinc transporter), member 12																																				SO:0001630	splice_region_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242118A>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.-86-1A>T	10.37:g.18242118A>T						SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Splice_Site		NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			2	187	+								B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Splice_Site	SNP	ENST00000377369.2	37		CCDS44362.1																																																																																				0.433	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Intron	25	29	0	0	0	1	0	25	29				
RYR2	6262	broad.mit.edu	37	1	237947849	237947849	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237947849G>T	ENST00000366574.2	+	90	13154	c.12837G>T	c.(12835-12837)atG>atT	p.M4279I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4279					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGGACATGGTCACGGCCT	0.463																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12835-12837)atG>atT		ryanodine receptor 2 (cardiac)							75.0	74.0	74.0					1																	237947849		1890	4130	6020	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.chr1:237947849G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12837G>T	1.37:g.237947849G>T	ENSP00000355533:p.Met4279Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I	p.M4279I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13154	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4279					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12837G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418753	0.25552	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96073	-3.9;-3.87;-3.89	5.11	4.18	0.49190	.	0.141184	0.42172	D	0.000752	D	0.90051	0.6893	L	0.31804	0.96	0.80722	D	1	B;B	0.24533	0.105;0.009	B;B	0.21360	0.034;0.012	D	0.85367	0.1111	10	0.24483	T	0.36	.	10.3535	0.43950	0.1499:0.0:0.8501:0.0	.	1253;4279	B4DGV4;Q92736	.;RYR2_HUMAN	I	4279;4285;4263;1253	ENSP00000355533:M4279I;ENSP00000353174:M4285I;ENSP00000443798:M4263I	ENSP00000353174:M4285I	M	+	3	0	RYR2	236014472	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	5.615000	0.67702	2.657000	0.90304	0.655000	0.94253	ATG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	23	1	0	9.31168e-06	1	9.86937e-06	13	23				
SAAL1	113174	broad.mit.edu	37	11	18105280	18105280	+	Splice_Site	SNP	T	T	A	rs144009342		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:18105280T>A	ENST00000524803.1	-	10	1092		c.e10-2		SAAL1_ENST00000300013.4_Intron|SAAL1_ENST00000529318.1_Intron			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1											breast(2)|large_intestine(5)|lung(8)	15						GAAGATCTACTGTATAAACAA	0.358																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.e10-2		serum amyloid A-like 1							77.0	73.0	74.0					11																	18105280		2200	4293	6493	SO:0001630	splice_region_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18105280T>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1043-2A>T	11.37:g.18105280T>A						SAAL1_ENST00000529318.1_Intron|SAAL1_ENST00000300013.4_Intron				Q96ER3	SAAL1_HUMAN			10	1092	-								A6NH05	Splice_Site	SNP	ENST00000524803.1	37		CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290396	0.40494	.	.	ENSG00000166788	ENST00000524803	.	.	.	5.79	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1307	0.10148	0.1593:0.1677:0.0:0.673	.	.	.	.	.	-1	.	.	.	-	.	.	SAAL1	18061856	0.993000	0.37304	0.117000	0.21633	0.966000	0.64601	1.415000	0.34748	0.979000	0.38497	0.533000	0.62120	.		0.358	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	Intron	22	32	0	0	0	1	0	22	32				
MPDZ	8777	broad.mit.edu	37	9	13183422	13183422	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:13183422G>C	ENST00000319217.7	-	19	2891	c.2644C>G	c.(2644-2646)Cct>Gct	p.P882A	MPDZ_ENST00000541718.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882A|MPDZ_ENST00000546205.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882A|MPDZ_ENST00000447879.1_Missense_Mutation_p.P882A|MPDZ_ENST00000536827.1_Missense_Mutation_p.P882A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	882					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTACCTTAGGAGGAGATGAT	0.398																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2644-2646)Cct>Gct		multiple PDZ domain protein							70.0	64.0	66.0					9																	13183422		1857	4101	5958	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13183422G>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2644C>G	9.37:g.13183422G>C	ENSP00000320006:p.Pro882Ala					MPDZ_ENST00000447879.1_Missense_Mutation_p.P882A|MPDZ_ENST00000546205.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882A|MPDZ_ENST00000541718.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882A|MPDZ_ENST00000536827.1_Missense_Mutation_p.P882A	p.P882A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	19	2891	-			882					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2644C>G		.	.	.	.	.	.	.	.	.	.	G	5.544	0.285290	0.10513	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10860	2.88;2.83;2.83;2.83;2.87;2.88;2.87	5.75	3.91	0.45181	.	0.000000	0.43110	D	0.000602	T	0.09335	0.0230	L	0.32530	0.975	0.80722	D	1	B;B;B	0.10296	0.002;0.0;0.003	B;B;B	0.14578	0.004;0.004;0.011	T	0.12344	-1.0551	10	0.36615	T	0.2	.	11.5693	0.50824	0.067:0.1252:0.8077:0.0	.	882;882;882	B7ZMI4;O75970-3;O75970-2	.;.;.	A	882;882;882;882;882;882;832;882	ENSP00000320006:P882A;ENSP00000439807:P882A;ENSP00000370410:P882A;ENSP00000444151:P882A;ENSP00000415208:P882A;ENSP00000370403:P882A;ENSP00000446358:P882A	ENSP00000320006:P882A	P	-	1	0	MPDZ	13173422	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	3.776000	0.55356	0.775000	0.33450	0.650000	0.86243	CCT		0.398	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		12	14	0	0	0	1	0	12	14				
FCGBP	8857	broad.mit.edu	37	19	40368603	40368603	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40368603G>A	ENST00000221347.6	-	28	12752	c.12745C>T	c.(12745-12747)Cca>Tca	p.P4249S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4249	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCCAGCCTGGGGCTCGCCAG	0.647																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12745-12747)Cca>Tca		Fc fragment of IgG binding protein							11.0	14.0	13.0					19																	40368603		2164	4189	6353	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368603G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12745C>T	19.37:g.40368603G>A	ENSP00000221347:p.Pro4249Ser						p.P4249S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12752	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4249			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12745C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090382	0.20471	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.45	3.32	0.38043	von Willebrand factor, type D domain (1);	0.260865	0.31450	U	0.007626	T	0.11665	0.0284	L	0.41027	1.25	0.09310	N	0.999999	P	0.47762	0.9	P	0.44518	0.452	T	0.12630	-1.0540	10	0.02654	T	1	.	6.9867	0.24733	0.0:0.1597:0.5323:0.308	.	4249	Q9Y6R7	FCGBP_HUMAN	S	4249	ENSP00000221347:P4249S	ENSP00000221347:P4249S	P	-	1	0	FCGBP	45060443	0.000000	0.05858	0.948000	0.38648	0.359000	0.29487	-0.283000	0.08433	2.201000	0.70794	0.305000	0.20034	CCA		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	106	0	0	0	1	0	5	106				
LILRA4	23547	broad.mit.edu	37	19	54848374	54848374	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:54848374G>T	ENST00000291759.4	-	6	1049	c.993C>A	c.(991-993)ggC>ggA	p.G331G	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	331	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCACCGTGGGGCCCGGCTGCA	0.617																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(991-993)ggC>ggA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							59.0	60.0	60.0					19																	54848374		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848374G>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.993C>A	19.37:g.54848374G>T						AC008984.2_ENST00000507363.1_RNA	p.G331G	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1049	-	Ovarian(34;0.19)		331			Ig-like C2-type 4.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.993C>A	CCDS12890.1																																																																																				0.617	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		17	48	1	0	1.02788e-11	1	1.19104e-11	17	48				
OR56B4	196335	broad.mit.edu	37	11	6129824	6129824	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6129824G>A	ENST00000316529.3	+	1	911	c.816G>A	c.(814-816)aaG>aaA	p.K272K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGAAAAAGATTCCCCTTA	0.512																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(814-816)aaG>aaA		olfactory receptor, family 56, subfamily B, member 4							116.0	117.0	117.0					11																	6129824		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129824G>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.816G>A	11.37:g.6129824G>A						RP11-290F24.3_ENST00000529961.1_RNA	p.K272K	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	911	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	272					Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.816G>A	CCDS31406.1																																																																																				0.512	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		30	53	0	0	0	1	0	30	53				
CNGB3	54714	broad.mit.edu	37	8	87679200	87679200	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:87679200G>A	ENST00000320005.5	-	6	852	c.805C>T	c.(805-807)Cta>Tta	p.L269L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	269					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGGATAAATAGCATATCATAA	0.423																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(805-807)Cta>Tta		cyclic nucleotide gated channel beta 3							109.0	98.0	102.0					8																	87679200		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679200G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.805C>T	8.37:g.87679200G>A							p.L269L	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			6	852	-			269					C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.805C>T	CCDS6244.1																																																																																				0.423	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		13	44	0	0	0	1	0	13	44				
VPS13C	54832	broad.mit.edu	37	15	62146686	62146686	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:62146686C>G	ENST00000261517.5	-	85	11305	c.11232G>C	c.(11230-11232)gtG>gtC	p.V3744V	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Silent_p.V3701V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGAAGTCTCACTGATGACT	0.408																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(11230-11232)gtG>gtC		vacuolar protein sorting 13 homolog C (S. cerevisiae)							215.0	192.0	200.0					15																	62146686		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62146686C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11232G>C	15.37:g.62146686C>G						VPS13C_ENST00000249837.3_Silent_p.V3701V	p.V3744V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			85	11305	-			3744						Silent	SNP	ENST00000261517.5	37	c.11232G>C	CCDS32257.1																																																																																				0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	206	0	0	0	1	0	5	206				
ZNF419	79744	broad.mit.edu	37	19	58005263	58005263	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58005263A>G	ENST00000221735.7	+	5	1524	c.1338A>G	c.(1336-1338)cgA>cgG	p.R446R	ZNF419_ENST00000426954.2_Silent_p.R434R|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000442920.2_Silent_p.R433R|ZNF419_ENST00000347466.6_Silent_p.R414R|ZNF419_ENST00000415379.2_Silent_p.R400R|ZNF419_ENST00000424930.2_Silent_p.R447R|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCAACATCGAAAAGTTCACA	0.433																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1339-1341)cgA>cgG		zinc finger protein 419							114.0	120.0	118.0					19																	58005263		2203	4300	6503	SO:0001819	synonymous_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005263A>G	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1338A>G	19.37:g.58005263A>G						AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Silent_p.R414R|ZNF419_ENST00000415379.2_Silent_p.R400R|ZNF419_ENST00000221735.7_Silent_p.R446R|ZNF419_ENST00000442920.2_Silent_p.R433R|ZNF419_ENST00000426954.2_Silent_p.R434R	p.R447R	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1570	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	446					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	ENST00000221735.7	37	c.1341A>G	CCDS54326.1																																																																																				0.433	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		4	190	0	0	0	1	0	4	190				
NKAPL	222698	broad.mit.edu	37	6	28227978	28227978	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28227978T>C	ENST00000343684.3	+	1	881	c.829T>C	c.(829-831)Tta>Cta	p.L277L	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	277										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TACTATGGATTTAATAGGGCC	0.443																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(829-831)Tta>Cta		NFKB activating protein-like							48.0	51.0	50.0					6																	28227978		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227978T>C	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.829T>C	6.37:g.28227978T>C							p.L277L	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	881	+			277					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.829T>C	CCDS34353.1																																																																																				0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			30	34	0	0	0	1	0	30	34				
STK31	56164	broad.mit.edu	37	7	23871925	23871925	+	Silent	SNP	G	G	A	rs371058322		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871925G>A	ENST00000355870.3	+	24	3119	c.3000G>A	c.(2998-3000)acG>acA	p.T1000T	STK31_ENST00000428484.1_Silent_p.T977T|STK31_ENST00000354639.3_Silent_p.T977T|STK31_ENST00000433467.2_Silent_p.T977T|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1000	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M (in dbSNP:rs55794023). {ECO:0000269|PubMed:17344846}.	T -> P (in Ref. 2; AAK17193). {ECO:0000305}.		acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATAAAGACGGAGAACTTGG	0.328																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2929-2931)acG>acA		serine/threonine kinase 31		G	,,	1,4405	2.1+/-5.4	0,1,2202	73.0	81.0	78.0		2931,3000,2931	0.4	1.0	7		78	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	977/997,1000/1020,977/997	23871925	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871925G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3000G>A	7.37:g.23871925G>A						STK31_ENST00000428484.1_Silent_p.T977T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.T977T|STK31_ENST00000355870.3_Silent_p.T1000T	p.T977T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3395	+			1000			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2931G>A	CCDS5386.1																																																																																				0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		41	96	0	0	0	1	0	41	96				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020754	33020754	+	RNA	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:33020754C>T	ENST00000565407.2	+	0	162				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		ACTACATGAGCTGGGTCCGCC	0.562																																						ENST00000565407.2																			0																				209.0	176.0	186.0					16																	33020754		1902	4122	6024			388255							g.chr16:33020754C>T	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020754C>T						RP11-19N8.2_ENST00000567619.1_RNA								0	162	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.562	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			97	235	0	0	0	1	0	97	235				
ULK4	54986	broad.mit.edu	37	3	41977361	41977361	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:41977361C>G	ENST00000301831.4	-	4	772	c.310G>C	c.(310-312)Gac>Cac	p.D104H	ULK4_ENST00000420927.1_Missense_Mutation_p.D104H	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTAATCAGGTCAATTCCAAAT	0.353																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(310-312)Gac>Cac		unc-51 like kinase 4							133.0	128.0	130.0					3																	41977361		1880	4110	5990	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41977361C>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.310G>C	3.37:g.41977361C>G	ENSP00000301831:p.Asp104His					ULK4_ENST00000420927.1_Missense_Mutation_p.D104H	p.D104H	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	4	772	-			104			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.310G>C	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774527	0.90108	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.75050	-0.9;1.74	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043960	0.85682	D	0.000000	D	0.84534	0.5493	M	0.66297	2.02	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62014	0.897;0.897	D	0.85312	0.1079	10	0.87932	D	0	.	18.9487	0.92632	0.0:1.0:0.0:0.0	.	104;104	B4E2M4;Q96C45	.;ULK4_HUMAN	H	104	ENSP00000301831:D104H;ENSP00000412187:D104H	ENSP00000301831:D104H	D	-	1	0	ULK4	41952365	1.000000	0.71417	0.838000	0.33150	0.955000	0.61496	5.343000	0.65976	2.778000	0.95560	0.655000	0.94253	GAC		0.353	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		27	38	0	0	0	1	0	27	38				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522778	95522778	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:95522778G>T	ENST00000432432.2	-	0	249					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CACCTCCGCGGCGTCGCCTTT	0.682																																						ENST00000432432.2																			0																																																			729171							g.chr2:95522778G>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522778G>T								NR_040113.1						0	249	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			27	46	1	0	1.88708e-17	1	2.3448e-17	27	46				
LOC645752	645752	broad.mit.edu	37	15	78211240	78211240	+	lincRNA	SNP	C	C	T	rs199851539		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:78211240C>T	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTCCCACAGCCTCTTTTCCTG	0.577																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211240C>T																													15.37:g.78211240C>T						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.577	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			73	136	0	0	0	1	0	73	136				
SPATA31E1	286234	broad.mit.edu	37	9	90499867	90499867	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:90499867G>T	ENST00000325643.5	+	4	531	c.465G>T	c.(463-465)ctG>ctT	p.L155L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	155					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTCCCACCTGCCCTTAGGTG	0.637																																						ENST00000325643.5																			0											c.(463-465)ctG>ctT		SPATA31 subfamily E, member 1							35.0	36.0	35.0					9																	90499867		2203	4299	6502	SO:0001819	synonymous_variant	286234							g.chr9:90499867G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.465G>T	9.37:g.90499867G>T							p.L155L	NM_178828.4	NP_849150.3					4	531	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.465G>T	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		12	32	1	0	1.5842e-08	1	1.75888e-08	12	32				
SDK1	221935	broad.mit.edu	37	7	4152954	4152954	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:4152954G>A	ENST00000404826.2	+	24	3607	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P	SDK1_ENST00000389531.3_Silent_p.P1156P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1156	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGTTGGGCCGAGCCCCTACA	0.547																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3466-3468)ccG>ccA		sidekick cell adhesion molecule 1							173.0	182.0	179.0					7																	4152954		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4152954G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3468G>A	7.37:g.4152954G>A						SDK1_ENST00000389531.3_Silent_p.P1156P	p.P1156P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3607	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1156			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3468G>A	CCDS34590.1																																																																																				0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		24	259	0	0	0	1	0	24	259				
DDB1	1642	broad.mit.edu	37	11	61081939	61081939	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:61081939C>T	ENST00000301764.7	-	13	1827	c.1430G>A	c.(1429-1431)aGg>aAg	p.R477K	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	477	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGACCAACCTCACCGATGC	0.522								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1429-1431)aGg>aAg	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							156.0	147.0	150.0					11																	61081939		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61081939C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1430G>A	11.37:g.61081939C>T	ENSP00000301764:p.Arg477Lys					DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	p.R477K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			13	1827	-			477			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.1430G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091938	0.94149	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);	0.046824	0.85682	N	0.000000	T	0.72162	0.3426	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73455	-0.3977	10	0.54805	T	0.06	-21.4621	19.751	0.96268	0.0:1.0:0.0:0.0	.	477	Q16531	DDB1_HUMAN	K	477;41;128;196	ENSP00000301764:R477K;ENSP00000442732:R41K;ENSP00000437713:R128K;ENSP00000445563:R196K	ENSP00000301764:R477K	R	-	2	0	DDB1	60838515	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.797000	0.85911	2.693000	0.91896	0.650000	0.86243	AGG		0.522	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		50	120	0	0	0	1	0	50	120				
LRRN4	164312	broad.mit.edu	37	20	6032851	6032851	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:6032851C>G	ENST00000378858.4	-	2	819	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	199					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGCGCGCCATCCTCTCCAGCG	0.711																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(595-597)Gat>Cat		leucine rich repeat neuronal 4							8.0	7.0	7.0					20																	6032851		2051	4069	6120	SO:0001583	missense	164312					integral to membrane		g.chr20:6032851C>G	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.595G>C	20.37:g.6032851C>G	ENSP00000368135:p.Asp199His						p.D199H	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	819	-			199					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.595G>C	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358436	0.41801	.	.	ENSG00000125872	ENST00000378858	T	0.58652	0.32	5.24	4.28	0.50868	.	0.953798	0.08613	N	0.919717	T	0.43590	0.1254	L	0.37750	1.13	0.09310	N	1	P;P	0.45283	0.776;0.855	B;B	0.37780	0.258;0.258	T	0.34601	-0.9822	10	0.45353	T	0.12	-3.4685	4.963	0.14076	0.1341:0.6099:0.1305:0.1255	.	199;199	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	H	199	ENSP00000368135:D199H	ENSP00000368135:D199H	D	-	1	0	LRRN4	5980851	0.036000	0.19791	0.066000	0.19879	0.119000	0.20118	0.969000	0.29370	2.578000	0.87016	0.563000	0.77884	GAT		0.711	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		3	7	0	0	0	1	0	3	7				
PCLO	27445	broad.mit.edu	37	7	82763657	82763657	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:82763657G>A	ENST00000333891.9	-	3	3546	c.3209C>T	c.(3208-3210)tCt>tTt	p.S1070F	PCLO_ENST00000423517.2_Missense_Mutation_p.S1070F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGATCCTTAGAACCTATGTT	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3208-3210)tCt>tTt		piccolo presynaptic cytomatrix protein							63.0	58.0	59.0					7																	82763657		1877	4111	5988	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763657G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3209C>T	7.37:g.82763657G>A	ENSP00000334319:p.Ser1070Phe					PCLO_ENST00000333891.8_Missense_Mutation_p.S1070F	p.S1070F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3546	-			1016						Missense_Mutation	SNP	ENST00000333891.9	37	c.3209C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	9.623	1.134357	0.21123	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.78126	-1.15;-1.15	6.07	6.07	0.98685	.	.	.	.	.	D	0.87665	0.6234	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.87284	0.2294	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1070;1070	Q9Y6V0-5;Q9Y6V0-6	.;.	F	1016;1070;1070	ENSP00000334319:S1070F;ENSP00000388393:S1070F	ENSP00000334319:S1070F	S	-	2	0	PCLO	82601593	1.000000	0.71417	0.970000	0.41538	0.395000	0.30598	7.679000	0.84048	2.884000	0.98904	0.655000	0.94253	TCT		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	12	0	0	0	1	0	10	12				
C7	730	broad.mit.edu	37	5	40931189	40931189	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:40931189A>G	ENST00000313164.9	+	3	445	c.86A>G	c.(85-87)cAg>cGg	p.Q29R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	29	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GTCAACTGCCAGTGGGACTTC	0.433																																						ENST00000313164.9																			0											c.(85-87)cAg>cGg		complement component 7							91.0	88.0	89.0					5																	40931189		1906	4134	6040	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40931189A>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.86A>G	5.37:g.40931189A>G	ENSP00000322061:p.Gln29Arg						p.Q29R	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			3	445	+		Ovarian(839;0.0112)	29			TSP type-1 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.86A>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	4.995	0.184835	0.09495	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	T	0.18016	2.24	5.53	4.24	0.50183	.	0.534882	0.20237	N	0.096361	T	0.10208	0.0250	L	0.28608	0.87	0.21445	N	0.999682	B	0.09022	0.002	B	0.06405	0.002	T	0.31806	-0.9930	10	0.10902	T	0.67	-6.1794	6.9704	0.24646	0.7734:0.0:0.0814:0.1452	.	29	P10643	CO7_HUMAN	R	29	ENSP00000322061:Q29R	ENSP00000322061:Q29R	Q	+	2	0	C7	40966946	0.995000	0.38212	1.000000	0.80357	0.892000	0.51952	1.677000	0.37576	2.100000	0.63781	0.528000	0.53228	CAG		0.433	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			26	9	0	0	0	1	0	26	9				
CSRP2BP	57325	broad.mit.edu	37	20	18163851	18163851	+	Silent	SNP	G	G	T	rs377654180		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18163851G>T	ENST00000435364.3	+	8	2234	c.1893G>T	c.(1891-1893)acG>acT	p.T631T	CSRP2BP_ENST00000377681.3_Silent_p.T630T|CSRP2BP_ENST00000489634.2_Silent_p.T503T	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	631					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTCACTGGACGCCGGAGCCCG	0.537																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1891-1893)acG>acT		CSRP2 binding protein		G		2,4404	4.2+/-10.8	0,2,2201	136.0	125.0	129.0		1893	-3.4	0.8	20		129	0,8600		0,0,4300	no	coding-synonymous	CSRP2BP	NM_020536.4		0,2,6501	TT,TG,GG		0.0,0.0454,0.0154		631/783	18163851	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18163851G>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1893G>T	20.37:g.18163851G>T						CSRP2BP_ENST00000489634.2_Silent_p.T503T|CSRP2BP_ENST00000377681.2_Silent_p.T630T|CSRP2BP_ENST00000435364.2_Silent_p.T631T	p.T631T			Q9H8E8	CSR2B_HUMAN			9	2543	+			631					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.1893G>T	CCDS13133.1																																																																																				0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		38	69	1	0	2.05212e-20	1	2.62815e-20	38	69				
LPA	4018	broad.mit.edu	37	6	160978583	160978583	+	Missense_Mutation	SNP	C	C	A	rs375415625		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:160978583C>A	ENST00000316300.5	-	29	4696	c.4652G>T	c.(4651-4653)tGc>tTc	p.C1551F	LPA_ENST00000447678.1_Missense_Mutation_p.C1551F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4059	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCTC	0.478																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4651-4653)tGc>tTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						76.0	78.0	77.0					6																	160978583		2108	4262	6370	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978583C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4652G>T	6.37:g.160978583C>A	ENSP00000321334:p.Cys1551Phe					LPA_ENST00000316300.5_Missense_Mutation_p.C1551F	p.C1551F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4772	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4059			Kringle 14.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4652G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	N	20.8	4.046520	0.75846	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.98164	-4.76;-4.76	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.99405	0.9790	H	0.99838	4.83	0.51767	D	0.999935	D	0.76494	0.999	D	0.91635	0.999	D	0.98016	1.0368	9	0.87932	D	0	.	10.2828	0.43550	0.0:1.0:0.0:0.0	.	4059	P08519	APOA_HUMAN	F	1551	ENSP00000321334:C1551F;ENSP00000395608:C1551F	ENSP00000321334:C1551F	C	-	2	0	LPA	160898573	1.000000	0.71417	0.973000	0.42090	0.784000	0.44337	5.713000	0.68415	1.410000	0.46936	0.430000	0.28490	TGC		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		24	61	1	0	2.79863e-10	1	3.19219e-10	24	61				
CEP89	84902	broad.mit.edu	37	19	33444523	33444523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:33444523G>A	ENST00000305768.5	-	4	578	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	CEP89_ENST00000590597.2_Nonsense_Mutation_p.Q164*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	164					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GAAAACACCTGATTTCTGTGT	0.468																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(490-492)Cag>Tag		centrosomal protein 89kDa							427.0	468.0	454.0					19																	33444523		2203	4300	6503	SO:0001587	stop_gained	84902					centrosome|spindle pole		g.chr19:33444523G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.490C>T	19.37:g.33444523G>A	ENSP00000306105:p.Gln164*					CEP89_ENST00000590597.1_Nonsense_Mutation_p.Q164*	p.Q164*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	578	-			164					B9EGA6|Q8N5J8	Nonsense_Mutation	SNP	ENST00000305768.5	37	c.490C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942113	0.53079	.	.	ENSG00000121289	ENST00000305768	.	.	.	5.12	2.67	0.31697	.	0.932943	0.08932	N	0.872848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-14.6644	9.6909	0.40127	0.0:0.0:0.5468:0.4532	.	.	.	.	X	164	.	ENSP00000306105:Q164X	Q	-	1	0	CEP89	38136363	0.947000	0.32204	0.813000	0.32504	0.012000	0.07955	1.486000	0.35530	1.250000	0.43966	-0.293000	0.09583	CAG		0.468	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		22	551	0	0	0	1	0	22	551				
DDX27	55661	broad.mit.edu	37	20	47858649	47858649	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:47858649C>G	ENST00000371764.4	+	18	2124	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAAATCCTCAAGGCGCAGA	0.607																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2113-2115)ctC>ctG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							79.0	78.0	78.0					20																	47858649		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858649C>G	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2115C>G	20.37:g.47858649C>G						DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	p.L705L	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		18	2124	+			705					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.2115C>G	CCDS13416.1																																																																																				0.607	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			7	144	0	0	0	1	0	7	144				
FAM214B	80256	broad.mit.edu	37	9	35105331	35105331	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:35105331C>T	ENST00000378561.1	-	8	4559	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FAM214B_ENST00000603301.1_Missense_Mutation_p.D502N|FAM214B_ENST00000322813.5_Missense_Mutation_p.D502N|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.D502N|STOML2_ENST00000356493.5_5'Flank|STOML2_ENST00000487490.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.D502N|FAM214B_ENST00000378557.1_Missense_Mutation_p.D502N|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000378566.1_Missense_Mutation_p.D197N			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	502						nucleus (GO:0005634)											AGGCGGATATCTCCATGCAGG	0.587																																						ENST00000378561.1																			0											c.(1504-1506)Gat>Aat		family with sequence similarity 214, member B							46.0	48.0	47.0					9																	35105331		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35105331C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1504G>A	9.37:g.35105331C>T	ENSP00000367823:p.Asp502Asn					FAM214B_ENST00000605244.1_Missense_Mutation_p.D502N|FAM214B_ENST00000603301.1_Missense_Mutation_p.D502N|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.D502N|FAM214B_ENST00000378566.1_Missense_Mutation_p.D197N|FAM214B_ENST00000488109.2_Missense_Mutation_p.D502N|FAM214B_ENST00000378557.1_Missense_Mutation_p.D502N	p.D502N			Q7L5A3	K1539_HUMAN			8	4559	-			502					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.1504G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632174	0.87660	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.37800	1.135	0.80722	D	1	P	0.41366	0.747	P	0.49853	0.624	T	0.56080	-0.8038	9	0.44086	T	0.13	-7.9963	13.0068	0.58710	0.0:0.922:0.0:0.078	.	502	Q7L5A3	K1539_HUMAN	N	197;502;502;502	.	ENSP00000319897:D502N	D	-	1	0	KIAA1539	35095331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.461000	0.60115	2.739000	0.93911	0.561000	0.74099	GAT		0.587	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		3	26	0	0	0	1	0	3	26				
NPFFR2	10886	broad.mit.edu	37	4	73012715	73012715	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:73012715C>A	ENST00000308744.6	+	4	853	c.755C>A	c.(754-756)cCt>cAt	p.P252H	NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153H|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					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)			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)			GTGGTCTACCCTTTTAAACCA	0.378																																						ENST00000308744.6																			0				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						c.(754-756)cCt>cAt		neuropeptide FF receptor 2							198.0	199.0	199.0					4																	73012715		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012715C>A	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.755C>A	4.37:g.73012715C>A	ENSP00000307822:p.Pro252His					NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150H|NPFFR2_ENST00000344413.5_3'UTR	p.P252H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	853	+			252					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.755C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296369	0.60086	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.61510	0.1;0.1;0.1	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.81754	0.4889	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83966	0.0324	10	0.59425	D	0.04	.	19.6782	0.95945	0.0:1.0:0.0:0.0	.	153;252	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	H	252;153;150	ENSP00000307822:P252H;ENSP00000379321:P153H;ENSP00000351599:P150H	ENSP00000307822:P252H	P	+	2	0	NPFFR2	73231579	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	7.692000	0.84203	2.751000	0.94390	0.650000	0.86243	CCT		0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		48	139	1	0	2.24722e-20	1	2.87172e-20	48	139				
BCOR	54880	broad.mit.edu	37	X	39921470	39921470	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:39921470C>A	ENST00000378444.4	-	10	4578	c.4350G>T	c.(4348-4350)ccG>ccT	p.P1450P	BCOR_ENST00000378463.1_Silent_p.P293P|BCOR_ENST00000378455.4_Silent_p.P1398P|BCOR_ENST00000397354.3_Silent_p.P1416P|BCOR_ENST00000342274.4_Silent_p.P1416P	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1450					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGCTTCCGGCGGCATAGGGC	0.617			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4246-4248)ccG>ccT		BCL6 corepressor							83.0	63.0	70.0					X																	39921470		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39921470C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4350G>T	X.37:g.39921470C>A						BCOR_ENST00000397354.3_Silent_p.P1416P|BCOR_ENST00000378463.1_Silent_p.P293P|BCOR_ENST00000378455.4_Silent_p.P1398P|BCOR_ENST00000378444.4_Silent_p.P1450P	p.P1416P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			10	4610	-			1450					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4248G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750447	0.15778	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53982	-0.8361	4	.	.	.	-13.1422	7.4556	0.27264	0.1678:0.5501:0.0906:0.1914	.	.	.	.	L	145	.	.	R	-	2	0	BCOR	39806414	0.000000	0.05858	0.096000	0.21009	0.852000	0.48524	-2.556000	0.00924	-2.238000	0.00712	-1.016000	0.02456	CGC		0.617	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		6	3	1	0	5.9392e-07	1	6.43505e-07	6	3				
MYO3A	53904	broad.mit.edu	37	10	26285423	26285423	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:26285423G>T	ENST00000265944.5	+	5	474	c.308G>T	c.(307-309)tGc>tTc	p.C103F	MYO3A_ENST00000543632.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376302.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376301.1_Missense_Mutation_p.C103F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTTTAGCTCTGCAGTGGAGGA	0.348																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(307-309)tGc>tTc		myosin IIIA							110.0	107.0	108.0					10																	26285423		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26285423G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.308G>T	10.37:g.26285423G>T	ENSP00000265944:p.Cys103Phe					MYO3A_ENST00000376301.1_Missense_Mutation_p.C103F|MYO3A_ENST00000543632.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376302.1_Missense_Mutation_p.C103F	p.C103F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			5	474	+			103			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.308G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328401	0.81690	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.67171	-0.25;-0.25;-0.25;0.89	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.88828	0.3303	10	0.87932	D	0	.	19.389	0.94573	0.0:0.0:1.0:0.0	.	103;103;103;103	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	F	103	ENSP00000265944:C103F;ENSP00000365479:C103F;ENSP00000445909:C103F;ENSP00000365478:C103F	ENSP00000265944:C103F	C	+	2	0	MYO3A	26325429	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.504000	0.97986	2.670000	0.90874	0.484000	0.47621	TGC		0.348	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		4	48	1	0	0.00909568	1	0.00923805	4	48				
KIAA1522	57648	broad.mit.edu	37	1	33237216	33237216	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:33237216C>G	ENST00000373480.1	+	6	2362	c.2259C>G	c.(2257-2259)gtC>gtG	p.V753V	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.V812V|KIAA1522_ENST00000373481.3_Silent_p.V764V	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	753	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGAGCTTGTCAGCTCCCCGG	0.642																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2434-2436)gtC>gtG		KIAA1522							27.0	31.0	29.0					1																	33237216		1924	4109	6033	SO:0001819	synonymous_variant	57648							g.chr1:33237216C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2259C>G	1.37:g.33237216C>G						KIAA1522_ENST00000373480.1_Silent_p.V753V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V764V	p.V812V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2506	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	753			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2436C>G	CCDS55588.1																																																																																				0.642	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	23	0	0	0	1	0	6	23				
OR5D13	390142	broad.mit.edu	37	11	55541394	55541394	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55541394C>T	ENST00000361760.1	+	1	481	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	161						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCCCTGATACTCACATATTT	0.413																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(481-483)Ctc>Ttc		olfactory receptor, family 5, subfamily D, member 13							168.0	163.0	165.0					11																	55541394		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541394C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.481C>T	11.37:g.55541394C>T	ENSP00000354800:p.Leu161Phe						p.L161F	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	481	+		all_epithelial(135;0.196)	161					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.481C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191113	0.01607	.	.	ENSG00000198877	ENST00000361760	T	0.00107	8.72	3.2	-0.228	0.13098	GPCR, rhodopsin-like superfamily (1);	1.757830	0.03996	U	0.295628	T	0.00144	0.0004	L	0.35542	1.07	0.09310	N	1	B	0.17038	0.02	B	0.25405	0.06	T	0.33214	-0.9877	10	0.56958	D	0.05	-7.0187	2.4797	0.04584	0.2177:0.3795:0.0:0.4028	.	161	Q8NGL4	OR5DD_HUMAN	F	161	ENSP00000354800:L161F	ENSP00000354800:L161F	L	+	1	0	OR5D13	55297970	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.152000	0.01288	0.123000	0.18342	-0.482000	0.04802	CTC		0.413	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		72	139	0	0	0	1	0	72	139				
GRM8	2918	broad.mit.edu	37	7	126173498	126173498	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:126173498G>T	ENST00000339582.2	-	9	2746	c.1938C>A	c.(1936-1938)atC>atA	p.I646I	GRM8_ENST00000444921.2_Silent_p.I646I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.I646I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	646					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)			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)				AGGAGCATATGATTGTATCTG	0.463										HNSCC(24;0.065)																												ENST00000339582.2																			0				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						c.(1936-1938)atC>atA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						88.0	88.0	88.0					7																	126173498		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.chr7:126173498G>T		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.1938C>A	7.37:g.126173498G>T		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.I646I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I646I	p.I646I			O00222	GRM8_HUMAN			9	2746	-		Prostate(267;0.186)	646					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1938C>A	CCDS5794.1																																																																																				0.463	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			50	54	1	0	2.43468e-25	1	3.22416e-25	50	54				
FAM135B	51059	broad.mit.edu	37	8	139163460	139163460	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139163460C>T	ENST00000395297.1	-	13	3428	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1086										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTGACTTCCTCATCCAACG	0.468										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3256-3258)gaG>gaA		family with sequence similarity 135, member B							54.0	46.0	49.0					8																	139163460		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163460C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3258G>A	8.37:g.139163460C>T		HNSCC(54;0.14)					p.E1086E	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3428	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1086					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3258G>A	CCDS6375.2																																																																																				0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	58	0	0	0	1	0	18	58				
ZNF527	84503	broad.mit.edu	37	19	37870093	37870093	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:37870093G>C	ENST00000436120.2	+	3	212	c.105G>C	c.(103-105)caG>caC	p.Q35H	ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	35	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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCATCTCAGAAGGATTTAT	0.433																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(103-105)caG>caC		zinc finger protein 527							115.0	116.0	116.0					19																	37870093		2080	4253	6333	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37870093G>C	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.105G>C	19.37:g.37870093G>C	ENSP00000390179:p.Gln35His					ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H	p.Q35H	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	212	+			35			KRAB.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.105G>C	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473473	0.63737	.	.	ENSG00000189164	ENST00000356178;ENST00000317566	T	0.09445	2.98	4.97	3.94	0.45596	Krueppel-associated box (4);	0.265329	0.20167	N	0.097808	T	0.39091	0.1065	M	0.92649	3.33	0.23628	N	0.997255	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;0.982;1.0	T	0.32481	-0.9905	10	0.87932	D	0	.	9.4244	0.38570	0.1711:0.0:0.8289:0.0	.	35;35;35	Q8NB42;Q8NB42-2;Q0P6G1	ZN527_HUMAN;.;.	H	35	ENSP00000348501:Q35H	ENSP00000325231:Q35H	Q	+	3	2	ZNF527	42561933	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.851000	0.39338	1.352000	0.45808	0.650000	0.86243	CAG		0.433	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		45	105	0	0	0	1	0	45	105				
AURKC	6795	broad.mit.edu	37	19	57746378	57746378	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57746378A>G	ENST00000302804.7	+	6	897	c.711A>G	c.(709-711)ccA>ccG	p.P237P	AURKC_ENST00000448930.1_Silent_p.P203P|AURKC_ENST00000599062.1_Silent_p.P234P|AURKC_ENST00000598785.1_Silent_p.P203P|AURKC_ENST00000415300.2_Silent_p.P218P	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGGGATATCCACCCTTTGAGA	0.527																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(709-711)ccA>ccG		aurora kinase C							155.0	131.0	139.0					19																	57746378		2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746378A>G		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.711A>G	19.37:g.57746378A>G						AURKC_ENST00000598785.1_Silent_p.P203P|AURKC_ENST00000448930.1_Silent_p.P203P|AURKC_ENST00000599062.1_Silent_p.P234P|AURKC_ENST00000415300.2_Silent_p.P218P	p.P237P	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	897	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	237			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.711A>G	CCDS33128.1																																																																																				0.527	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		19	46	0	0	0	1	0	19	46				
EPDR1	54749	broad.mit.edu	37	7	37960229	37960229	+	5'UTR	SNP	G	G	T	rs560476417		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:37960229G>T	ENST00000199448.4	+	0	67				EPDR1_ENST00000559325.1_Missense_Mutation_p.L16F|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ATTTCCTGTTGGCAGCAGTGA	0.587																																						ENST00000559325.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(46-48)ttG>ttT		ependymin related 1							25.0	29.0	28.0					7																	37960229		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960229G>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-313G>T	7.37:g.37960229G>T						EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron	p.L16F			Q9UM22	EPDR1_HUMAN			1	67	+			0					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.48G>T	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100795	0.76983	.	.	ENSG00000086289	ENST00000199448	.	.	.	4.93	4.93	0.64822	.	0.000000	0.30410	N	0.009686	T	0.50939	0.1645	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.60525	-0.7246	9	0.87932	D	0	-13.9681	13.5135	0.61526	0.0:0.0:1.0:0.0	.	16	A4D1W8	.	F	16	.	ENSP00000199448:L16F	L	+	3	2	EPDR1	37926754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.566000	0.45948	2.550000	0.86006	0.563000	0.77884	TTG		0.587	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		5	12	1	0	0.0215528	1	0.0217389	5	12				
ZRANB2	9406	broad.mit.edu	37	1	71538196	71538196	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:71538196C>T	ENST00000370920.3	-	5	638	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E113K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	113					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTATATATTCAACATTTTCT	0.289																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(337-339)Gaa>Aaa		zinc finger, RAN-binding domain containing 2							64.0	69.0	67.0					1																	71538196		2201	4291	6492	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71538196C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.337G>A	1.37:g.71538196C>T	ENSP00000359958:p.Glu113Lys					ZRANB2_ENST00000254821.6_Missense_Mutation_p.E113K	p.E113K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			5	638	-			113					D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.337G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327964	0.95733	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.74002	-0.8;-0.7	5.32	5.32	0.75619	.	0.056028	0.64402	D	0.000001	D	0.84365	0.5456	M	0.76727	2.345	0.80722	D	1	B;D	0.89917	0.334;1.0	B;D	0.76071	0.132;0.987	D	0.85837	0.1395	10	0.72032	D	0.01	.	19.0069	0.92854	0.0:1.0:0.0:0.0	.	113;113	O95218;O95218-2	ZRAB2_HUMAN;.	K	113	ENSP00000359958:E113K;ENSP00000254821:E113K	ENSP00000254821:E113K	E	-	1	0	ZRANB2	71310784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.503000	0.84419	0.460000	0.39030	GAA		0.289	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		39	68	0	0	0	1	0	39	68				
LRP5L	91355	broad.mit.edu	37	22	25753225	25753225	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:25753225G>A	ENST00000402785.2	-	2	531	c.435C>T	c.(433-435)atC>atT	p.I145I	LRP5L_ENST00000402859.2_Silent_p.I145I|LRP5L_ENST00000444995.3_Silent_p.I145I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	145					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCTCACCTCGATCTTGTCTG	0.657																																						ENST00000444995.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(433-435)atC>atT		low density lipoprotein receptor-related protein 5-like							113.0	88.0	97.0					22																	25753225		2201	4300	6501	SO:0001819	synonymous_variant	91355							g.chr22:25753225G>A	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.435C>T	22.37:g.25753225G>A						LRP5L_ENST00000402785.2_Silent_p.I145I|LRP5L_ENST00000402859.2_Silent_p.I145I	p.I145I			A4QPB2	LRP5L_HUMAN			5	1135	-			145					B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	c.435C>T	CCDS33626.1																																																																																				0.657	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		26	39	0	0	0	1	0	26	39				
PLBD1	79887	broad.mit.edu	37	12	14664248	14664248	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:14664248C>T	ENST00000240617.5	-	8	1784	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	378					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAATTTGCTCCACAATGTAC	0.383																																						ENST00000240617.5																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1132-1134)Gag>Aag		phospholipase B domain containing 1							158.0	134.0	142.0					12																	14664248		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14664248C>T	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1132G>A	12.37:g.14664248C>T	ENSP00000240617:p.Glu378Lys						p.E378K	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN			8	1784	-			378					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.1132G>A	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691528	0.96793	.	.	ENSG00000121316	ENST00000240617	T	0.37915	1.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79371	-0.1831	10	0.87932	D	0	-27.4857	18.8245	0.92111	0.0:1.0:0.0:0.0	.	378	Q6P4A8	PLBL1_HUMAN	K	378	ENSP00000240617:E378K	ENSP00000240617:E378K	E	-	1	0	PLBD1	14555515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.299000	0.78831	2.884000	0.98904	0.655000	0.94253	GAG		0.383	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		41	81	0	0	0	1	0	41	81				
HMCN1	83872	broad.mit.edu	37	1	185987437	185987437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:185987437delC	ENST00000271588.4	+	34	5652	c.5423delC	c.(5422-5424)gcafs	p.A1808fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.A1808fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1808	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCATGGCAGCAAATACTGCT	0.398																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5422-5424)gafs		hemicentin 1							139.0	139.0	139.0					1																	185987437		2203	4300	6503	SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987437delC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5423delC	1.37:g.185987437delC	ENSP00000271588:p.Ala1808fs					HMCN1_ENST00000367492.2_Frame_Shift_Del_p.A1808fs	p.A1808fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			34	5652	+			1808			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	c.5423delC	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		32	109						32	109	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915432	48915432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:48915432delG	ENST00000294954.7	-	11	1525	c.1504delC	c.(1504-1506)cttfs	p.L502fs	LHCGR_ENST00000344775.3_Frame_Shift_Del_p.L440fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.L475fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	502			L -> P (in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation). {ECO:0000269|PubMed:15372531}.		activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACACCGACAAGGGGCAACATA	0.428																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1504-1506)ttfs		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						120.0	110.0	114.0					2																	48915432		2203	4300	6503	SO:0001589	frameshift_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915432delG		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1504delC	2.37:g.48915432delG	ENSP00000294954:p.Leu502fs					STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.L475fs|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.L440fs|LHCGR_ENST00000401907.1_Intron	p.L502fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1525	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	502		L -> P (in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation).			Q14751|Q15996|Q9UEW9	Frame_Shift_Del	DEL	ENST00000294954.7	37	c.1504delC	CCDS1842.1																																																																																				0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		32	96						32	96	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			101927533							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			4	3						4	3	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		gactccatctcaaaaaaaaaaa	0.564																																						ENST00000427638.1																			0																																																			285103							g.chr2:130893080_130893081insA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893091_130893091dupA								NR_033903.1						0	541_542	+									RNA	INS	ENST00000427638.1	37																																																																																						0.564	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		4	3						4	3	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			8	220						8	220	---	---	---	---
FAM86JP	100125556	broad.mit.edu	37	3	125635510	125635510	+	RNA	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:125635510delG	ENST00000485843.1	+	0	38					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		TTGCTGCAGAGTTTGCAGCGC	0.731																																						ENST00000485843.1																			0																																																			100125556							g.chr3:125635510delG			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125635510delG								NR_024251.1						0	38	+									RNA	DEL	ENST00000485843.1	37																																																																																						0.731	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		2	4						2	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637659	176637659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:176637659delA	ENST00000439151.2	+	5	2304	c.2259delA	c.(2257-2259)ccafs	p.P753fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P650fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	753					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCTCTCTCCAAAATTCAACC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2257-2259)ccfs		nuclear receptor binding SET domain protein 1							76.0	77.0	76.0					5																	176637659		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637659delA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2259delA	5.37:g.176637659delA	ENSP00000395929:p.Pro753fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P650fs	p.P753fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2304	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	753					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.2259delA	CCDS4412.1																																																																																				0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	36						21	36	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31110739	31110739	+	Splice_Site	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:31110739delC	ENST00000376266.5	-	17	2347		c.e17+1		CCHCR1_ENST00000451521.2_Splice_Site|CCHCR1_ENST00000396268.3_Splice_Site|CCHCR1_ENST00000396263.2_Splice_Site	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGCCCAAGACCTTTTATGGA	0.542																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.e17+1		coiled-coil alpha-helical rod protein 1							351.0	409.0	388.0					6																	31110739		1509	2709	4218	SO:0001630	splice_region_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110739delC	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2224+1G>-	6.37:g.31110739delC						CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000396263.2_Splice_Site|CCHCR1_ENST00000451521.2_Splice_Site		NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			17	2680	-								A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Splice_Site	DEL	ENST00000376266.5	37		CCDS4695.1																																																																																				0.542	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	Intron	181	224						181	224	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12675735	12675735	+	Frame_Shift_Del	DEL	G	G	-	rs76010472	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:12675735delG	ENST00000297029.5	+	10	1486	c.1385delG	c.(1384-1386)cggfs	p.R462fs	SCIN_ENST00000519209.1_Frame_Shift_Del_p.R215fs|SCIN_ENST00000445618.2_Frame_Shift_Del_p.R215fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	462	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTTGGATCGGTCCCTTGGA	0.478																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1384-1386)cgfs		scinderin							86.0	85.0	85.0					7																	12675735		2001	4179	6180	SO:0001589	frameshift_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12675735delG	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1385delG	7.37:g.12675735delG	ENSP00000297029:p.Arg462fs					SCIN_ENST00000445618.2_Frame_Shift_Del_p.R215fs|SCIN_ENST00000519209.1_Frame_Shift_Del_p.R215fs	p.R462fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1486	+			462			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Frame_Shift_Del	DEL	ENST00000297029.5	37	c.1385delG	CCDS47545.1																																																																																				0.478	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		10	24						10	24	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65225141	65225141	+	RNA	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:65225141delC	ENST00000442266.1	+	0	1034				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TAAGGTTTTTCATAGCATATC	0.383																																						ENST00000442266.1																			0																																																			643253							g.chr7:65225141delC	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65225141delC						SNORA15_ENST00000384058.1_RNA								0	1034	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		13	20						13	20	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		4	5						4	5	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						442582					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765242	141765242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:141765242delG	ENST00000549489.2	+	38	4687	c.4592delG	c.(4591-4593)tggfs	p.W1531fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.W1531fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1531	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGGCCGCATGGGATCAGCTG	0.617																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4591-4593)tgfs		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						58.0	65.0	63.0					7																	141765242		2034	4185	6219	SO:0001589	frameshift_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765242delG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4592delG	7.37:g.141765242delG	ENSP00000447378:p.Trp1531fs					MGAM_ENST00000549489.2_Frame_Shift_Del_p.W1531fs	p.W1531fs			O43451	MGA_HUMAN			38	4646	+	Melanoma(164;0.0272)		1531			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	c.4592delG	CCDS47727.1																																																																																				0.617	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	17						10	17	---	---	---	---
TRBV6-8	28599	broad.mit.edu	37	7	142124559	142124559	+	RNA	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142124559delG	ENST00000390376.2	-	0	6									T cell receptor beta variable 6-8																		AGGAGCCCGAGGCTCATGGCA	0.597																																						ENST00000390376.2																			0																				59.0	60.0	59.0					7																	142124559		1866	4095	5961			28599							g.chr7:142124559delG	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124559delG														0	6	-									RNA	DEL	ENST00000390376.2	37																																																																																						0.597	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		48	172						48	172	---	---	---	---
MRPL23	6150	broad.mit.edu	37	11	1968600	1968600	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1968600delG	ENST00000397298.3	+	1	93	c.8delG	c.(7-9)cggfs	p.R3fs	MRPL23_ENST00000397294.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381514.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.R3fs	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	3					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCCATGGCGCGGAATGTGGTG	0.766																																						ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(7-9)cgfs		mitochondrial ribosomal protein L23							7.0	8.0	8.0					11																	1968600		2153	4221	6374	SO:0001589	frameshift_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1968600delG	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.8delG	11.37:g.1968600delG	ENSP00000380466:p.Arg3fs					MRPL23_ENST00000397294.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397298.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.R3fs	p.R3fs			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	1	30	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3					A8MT29|Q96Q71	Frame_Shift_Del	DEL	ENST00000397298.3	37	c.8delG	CCDS31336.1																																																																																				0.766	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		2	4						2	4	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5010886	5010886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5010886delC	ENST00000380390.1	+	3	324	c.108delC	c.(106-108)ttcfs	p.F36fs	MMP26_ENST00000300762.1_Frame_Shift_Del_p.F36fs|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	36					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AGGGCTATTTCCATCAATTTT	0.468																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(106-108)ttfs		matrix metallopeptidase 26							46.0	43.0	44.0					11																	5010886		2201	4298	6499	SO:0001589	frameshift_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5010886delC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.108delC	11.37:g.5010886delC	ENSP00000369753:p.Phe36fs					MMP26_ENST00000300762.1_Frame_Shift_Del_p.F36fs|MMP26_ENST00000477339.1_3'UTR	p.F36fs			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	324	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	36					Q3MJ78|Q9GZS2|Q9NR87	Frame_Shift_Del	DEL	ENST00000380390.1	37	c.108delC	CCDS7752.1																																																																																				0.468	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		8	14						8	14	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412003	51412003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:51412003delC	ENST00000319760.6	-	1	445	c.393delG	c.(391-393)ttgfs	p.L131fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCATGATGGTCAAATAGTGCA	0.463																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(391-393)ttfs		olfactory receptor, family 4, subfamily A, member 5							77.0	72.0	74.0					11																	51412003		2201	4293	6494	SO:0001589	frameshift_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412003delC	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.393delG	11.37:g.51412003delC	ENSP00000367664:p.Leu131fs						p.L131fs	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	445	-		all_lung(304;0.236)	131					Q6IF84	Frame_Shift_Del	DEL	ENST00000319760.6	37	c.393delG	CCDS31497.1																																																																																				0.463	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		43	63						43	63	---	---	---	---
TBC1D3P5	440419	broad.mit.edu	37	17	25756988	25756988	+	RNA	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:25756988delC	ENST00000586223.1	+	0	1822					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGGCAGCAGACCACTCTCTGG	0.662																																						ENST00000586223.1																			0																																																			440419							g.chr17:25756988delC			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25756988delC								NR_033892.1						0	1822	+									RNA	DEL	ENST00000586223.1	37																																																																																						0.662	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		2	4						2	4	---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40521432	40521434	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40521432_40521434delAAG	ENST00000347077.4	+	7	2471_2473	c.2255_2257delAAG	c.(2254-2259)aaagaa>aaa	p.E753del	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_In_Frame_Del_p.E727del	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATAGCTGTAAAGAATGTGGGAA	0.394																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(2254-2259)aaa>a		zinc finger protein 546																																				SO:0001651	inframe_deletion	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521432_40521434delAAG	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2255_2257delAAG	19.37:g.40521432_40521434delAAG	ENSP00000339823:p.Glu753del					ZNF546_ENST00000600094.1_In_Frame_Del_p.KE726del|ZNF546_ENST00000596894.1_Intron	p.KE752del	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2471_2473	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		752					A8K913	In_Frame_Del	DEL	ENST00000347077.4	37	c.2255_2257delAAG	CCDS12548.1																																																																																				0.394	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		25	84						25	84	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451373	55451373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55451373delC	ENST00000590030.1	-	3	854	c.814delG	c.(814-816)gacfs	p.D272fs	NLRP7_ENST00000340844.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000588756.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.D300fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.D272fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	272	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTCCCAGTCCCCGCAGATG	0.607																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(814-816)acfs		NLR family, pyrin domain containing 7							58.0	60.0	59.0					19																	55451373		2203	4300	6503	SO:0001589	frameshift_variant	199713						ATP binding	g.chr19:55451373delC	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.814delG	19.37:g.55451373delC	ENSP00000465520:p.Asp272fs					NLRP7_ENST00000590030.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.D300fs	p.D272fs			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1300	-			272			NACHT.		E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Del	DEL	ENST00000590030.1	37	c.814delG	CCDS33109.1																																																																																				0.607	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		30	71						30	71	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			7	121						7	121	---	---	---	---
