#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
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20884854	20884854	+	RNA	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:20884854A>G	ENST00000582583.1	+	0	854				RP11-344E13.3_ENST00000439794.2_RNA|RP11-381P6.1_ENST00000581673.1_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA																							GAAGAGCAGTACTGGGCTGCT	0.627																																						ENST00000582583.1																			0																																																			440416							g.chr17:20884854A>G																													17.37:g.20884854A>G						RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA								0	854	+									RNA	SNP	ENST00000582583.1	37																																																																																						0.627	RP11-381P6.1-002	KNOWN	basic|readthrough_transcript	antisense	antisense	OTTHUMT00000444060.1			2	7	0	0	0	6.4e-05	0	2	7				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		22	55	0	0	0	0.00152264	0	22	55				
KRTAP5-10	387273	broad.mit.edu	37	11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(433-435)Tgt>Cgt		keratin associated protein 5-10							84.0	107.0	99.0					11																	71277066		2200	4293	6493	SO:0001583	missense	387273					keratin filament		g.chr11:71277066T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.433T>C	11.37:g.71277066T>C	ENSP00000381542:p.Cys145Arg					KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	p.C145R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	458	+			145			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.433T>C	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.773	-0.765051	0.02996	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01430	4.9;5.41	1.95	1.95	0.26073	.	.	.	.	.	T	0.02455	0.0075	M	0.82823	2.61	0.26601	N	0.973012	P	0.39964	0.697	B	0.32289	0.143	T	0.32161	-0.9917	9	0.59425	D	0.04	.	7.808	0.29215	0.0:0.0:0.0:1.0	.	145	Q6L8G5	KR510_HUMAN	R	145;97	ENSP00000381542:C145R;ENSP00000365719:C97R	ENSP00000365719:C97R	C	+	1	0	KRTAP5-10	70954714	0.732000	0.28121	0.410000	0.26471	0.005000	0.04900	0.567000	0.23608	1.160000	0.42584	0.383000	0.25322	TGT		0.647	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			47	102	0	0	0	0.000781405	0	47	102				
STARD13	90627	broad.mit.edu	37	13	33703125	33703125	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1687-1689)ccT>ccC		StAR-related lipid transfer (START) domain containing 13							63.0	62.0	62.0					13																	33703125		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703125A>G	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1689T>C	13.37:g.33703125A>G						STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	p.P563P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1805	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	563					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1689T>C	CCDS9348.1																																																																																				0.473	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		18	32	0	0	0	0.00074312	0	18	32				
LRRC14	9684	broad.mit.edu	37	8	145746352	145746352	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(970-972)gaG>gaA		leucine rich repeat containing 14							130.0	138.0	135.0					8																	145746352		2203	4299	6502	SO:0001819	synonymous_variant	9684							g.chr8:145746352G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.972G>A	8.37:g.145746352G>A						LRRC14_ENST00000529022.1_Silent_p.E324E	p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1118	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		324					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.972G>A	CCDS6432.1																																																																																				0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		18	159	0	0	0	0.000566183	0	18	159				
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	A	rs267606070		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(664-666)gcC>gcT		p21 protein (Cdc42/Rac)-activated kinase 7							75.0	73.0	74.0					20																	9561116		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561116G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.666C>T	20.37:g.9561116G>A						PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A	p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1212	-			222			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.666C>T	CCDS13107.1																																																																																				0.488	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			15	35	0	0	0	0.000566183	0	15	35				
N4BP3	23138	broad.mit.edu	37	5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGAAGCCCAGGCGGAACTGGC	0.622																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(1165-1167)Gcg>Acg		NEDD4 binding protein 3							97.0	108.0	104.0					5																	177548532		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177548532G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1165G>A	5.37:g.177548532G>A	ENSP00000274605:p.Ala389Thr						p.A389T	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1524	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	389					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.1165G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015677	0.93404	.	.	ENSG00000145911	ENST00000274605	T	0.51574	0.7	5.05	5.05	0.67936	.	0.103551	0.64402	D	0.000004	T	0.55924	0.1951	L	0.36672	1.1	0.58432	D	0.99999	D	0.71674	0.998	D	0.66847	0.947	T	0.47935	-0.9078	10	0.20519	T	0.43	-12.7974	15.9263	0.79618	0.0:0.0:1.0:0.0	.	389	O15049	N4BP3_HUMAN	T	389	ENSP00000274605:A389T	ENSP00000274605:A389T	A	+	1	0	N4BP3	177481138	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	7.903000	0.87398	2.362000	0.80069	0.561000	0.74099	GCG		0.622	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		47	90	0	0	0	0.000781405	0	47	90				
SENP6	26054	broad.mit.edu	37	6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:76344481C>T	ENST00000447266.2	+	5	890	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000370014.3_Missense_Mutation_p.H138Y	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(412-414)Cat>Tat		SUMO1/sentrin specific peptidase 6							110.0	102.0	105.0					6																	76344481		1875	4119	5994	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344481C>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.412C>T	6.37:g.76344481C>T	ENSP00000402527:p.His138Tyr					SENP6_ENST00000447266.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y	p.H138Y	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			5	1031	+		all_hematologic(105;0.189)	138					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.412C>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699743	0.68501	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.83	5.83	0.93111	.	0.435365	0.26411	N	0.024532	T	0.46249	0.1383	M	0.61703	1.905	0.80722	D	1	P;P;P	0.40376	0.715;0.593;0.715	B;B;B	0.43575	0.309;0.163;0.424	T	0.51116	-0.8746	10	0.72032	D	0.01	-0.7907	19.7221	0.96147	0.0:1.0:0.0:0.0	.	138;138;138	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Y	138;138;138;138;138;29;28	ENSP00000359027:H138Y;ENSP00000359031:H138Y;ENSP00000321820:H138Y;ENSP00000402527:H138Y;ENSP00000426480:H29Y;ENSP00000391426:H28Y	ENSP00000321820:H138Y	H	+	1	0	SENP6	76401201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.068000	0.64364	2.775000	0.95449	0.585000	0.79938	CAT		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		14	32	0	0	0	0.000308642	0	14	32				
PLXND1	23129	broad.mit.edu	37	3	129303021	129303021	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:129303021G>A	ENST00000324093.4	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000393239.1_Silent_p.A695A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	695					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2083-2085)gcC>gcT		plexin D1							114.0	78.0	90.0					3																	129303021		2203	4299	6502	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303021G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2085C>T	3.37:g.129303021G>A						PLXND1_ENST00000324093.4_Silent_p.A695A	p.A695A			Q9Y4D7	PLXD1_HUMAN			7	2263	-			695					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2085C>T	CCDS33854.1																																																																																				0.597	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	6	0	0	0	0.000602214	0	5	6				
GRIN3A	116443	broad.mit.edu	37	9	104449192	104449192	+	Silent	SNP	G	G	A	rs144389302	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTTCCATGTCGCAGCCAAACA	0.527																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(988-990)tgC>tgT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	A		0,4406		0,0,2203	85.0	82.0	83.0		990	-6.5	0.0	9	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIN3A	NM_133445.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		330/1116	104449192	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449192G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.990C>T	9.37:g.104449192G>A							p.C330C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1590	-		Acute lymphoblastic leukemia(62;0.0568)	330					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.990C>T	CCDS6758.1																																																																																				0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			11	26	0	0	0	0.000673444	0	11	26				
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25213157C>T	ENST00000577949.1	+	3	252	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000338094.6_Silent_p.F63F|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	63						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468																																						ENST00000338094.6																			0				breast(2)|large_intestine(2)|lung(1)	5						c.(187-189)ttC>ttT		SNRPN upstream reading frame							119.0	108.0	111.0					15																	25213157		2203	4300	6503	SO:0001819	synonymous_variant	8926							g.chr15:25213157C>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.189C>T	15.37:g.25213157C>T						SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000577949.1_Silent_p.F63F	p.F63F	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2				all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	3	250	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)						A6NCW2	Silent	SNP	ENST00000577949.1	37	c.189C>T	CCDS10016.1																																																																																				0.468	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		4	60	0	0	0	0.000602214	0	4	60				
LMBRD1	55788	broad.mit.edu	37	6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(757-759)tCa>tGa		LMBR1 domain containing 1							173.0	142.0	152.0					6																	70428852		2203	4300	6503	SO:0001587	stop_gained	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70428852G>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.758C>G	6.37:g.70428852G>C	ENSP00000359609:p.Ser253*					LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	p.S253*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			8	987	-			253					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Nonsense_Mutation	SNP	ENST00000370577.3	37	c.758C>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710790	0.68730	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	.	.	.	5.21	5.21	0.72293	.	0.062950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.5387	18.7413	0.91774	0.0:0.0:1.0:0.0	.	.	.	.	X	253;180	.	ENSP00000359602:S180X	S	-	2	0	LMBRD1	70485573	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.502000	0.81614	2.398000	0.81561	0.467000	0.42956	TCA		0.353	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		5	23	0	0	0	0.000602214	0	5	23				
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(982-984)taC>taT		vomeronasal 1 receptor 2							272.0	235.0	248.0					19																	53762612		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762612C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.984C>T	19.37:g.53762612C>T						VN1R2_ENST00000598458.1_Intron	p.Y328Y	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1068	+			328					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.984C>T	CCDS12862.1																																																																																				0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		45	109	0	0	0	0.00285205	0	45	109				
USP8	9101	broad.mit.edu	37	15	50788056	50788056	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:50788056G>C	ENST00000396444.3	+	17	3008	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Silent_p.R890R|USP8_ENST00000307179.4_Silent_p.R890R|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Silent_p.R784R	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890	USP.				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)		CTGATAATCGGAAGAGATATA	0.318																																						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.(2668-2670)cgG>cgC		ubiquitin specific peptidase 8							24.0	24.0	24.0					15																	50788056		2196	4264	6460	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.chr15:50788056G>C	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.2670G>C	15.37:g.50788056G>C						USP8_ENST00000425032.3_Silent_p.R784R|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.R890R|USP8_ENST00000396444.3_Silent_p.R890R	p.R890R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3170	+			890					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2670G>C	CCDS10137.1																																																																																				0.318	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		6	16	0	0	0	0.000157383	0	6	16				
NSD1	64324	broad.mit.edu	37	5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					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)		TTGGCTCAGTCAGAACTTGGA	0.542			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.(4075-4077)tCa>tAa		nuclear receptor binding SET domain protein 1							98.0	97.0	97.0					5																	176665392		2203	4300	6503	SO:0001587	stop_gained	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.chr5:176665392C>A	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.4076C>A	5.37:g.176665392C>A	ENSP00000395929:p.Ser1359*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	p.S1359*	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)	7	4121	+	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)	1359					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4076C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	41	8.991467	0.99029	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.28	5.28	0.74379	.	0.267348	0.27323	N	0.019882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2969	0.66318	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1359;1090;1256	.	ENSP00000343209:S1090X	S	+	2	0	NSD1	176597998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.959000	0.56744	2.756000	0.94617	0.655000	0.94253	TCA		0.542	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		78	34	1	0	1.03218e-28	0.000781405	4.75559e-28	78	34				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	62	0	0	0	0.00188189	0	17	62				
CERS2	29956	broad.mit.edu	37	1	150941485	150941485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150941485G>A	ENST00000271688.6	-	2	468	c.82C>T	c.(82-84)Cga>Tga	p.R28*	CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	28					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CGTCCATCTCGGTCTTCTAGA	0.527																																						ENST00000271688.6																			0											c.(82-84)Cga>Tga		ceramide synthase 2							146.0	112.0	124.0					1																	150941485		2203	4300	6503	SO:0001587	stop_gained	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150941485G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.82C>T	1.37:g.150941485G>A	ENSP00000271688:p.Arg28*					CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron|CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*	p.R28*	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			2	468	-			28					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Nonsense_Mutation	SNP	ENST00000271688.6	37	c.82C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614630	0.87359	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	.	.	.	4.65	3.64	0.41730	.	0.157936	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-2.3164	10.8078	0.46529	0.0:0.0:0.5642:0.4358	.	.	.	.	X	28;28;48;28;28;28	.	ENSP00000271688:R28X	R	-	1	2	CERS2	149208109	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	2.628000	0.46477	0.940000	0.37473	0.650000	0.86243	CGA		0.527	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		8	47	0	0	0	0.000157383	0	8	47				
B4GALNT3	283358	broad.mit.edu	37	12	666883	666883	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATAGCAGTGAGGACATGGATG	0.547																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2488-2490)gaG>gaA		beta-1,4-N-acetyl-galactosaminyl transferase 3							72.0	63.0	66.0					12																	666883		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:666883G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2490G>A	12.37:g.666883G>A							p.E830E	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		16	2503	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		830					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2490G>A	CCDS8504.1																																																																																				0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		14	21	0	0	0	0.00244969	0	14	21				
PHKB	5257	broad.mit.edu	37	16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:47627442T>C	ENST00000323584.5	+	11	1124	c.1100T>C	c.(1099-1101)aTa>aCa	p.I367T	PHKB_ENST00000566044.1_Missense_Mutation_p.I360T|PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000455779.1_Missense_Mutation_p.I360T	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					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)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1078-1080)aTa>aCa		phosphorylase kinase, beta							71.0	69.0	70.0					16																	47627442		2198	4297	6495	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47627442T>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1100T>C	16.37:g.47627442T>C	ENSP00000313504:p.Ile367Thr					PHKB_ENST00000323584.5_Missense_Mutation_p.I367T|PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T	p.I360T			Q93100	KPBB_HUMAN			12	1264	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	367					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1079T>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407741	0.83340	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92965	-3.14;-3.14	5.36	5.36	0.76844	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.117909	0.56097	D	0.000021	D	0.94456	0.8216	M	0.65498	2.005	0.58432	D	0.999991	P;P	0.40660	0.51;0.726	P;P	0.54100	0.742;0.552	D	0.94987	0.8131	10	0.87932	D	0	-17.1707	15.3467	0.74343	0.0:0.0:0.0:1.0	.	367;360	Q93100;Q93100-4	KPBB_HUMAN;.	T	360;360;367	ENSP00000414345:I360T;ENSP00000313504:I367T	ENSP00000299167:I360T	I	+	2	0	PHKB	46184943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.374000	0.66167	2.021000	0.59480	0.528000	0.53228	ATA		0.249	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			10	18	0	0	0	0.000978159	0	10	18				
SYNGR1	9145	broad.mit.edu	37	22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A|SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	157	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(469-471)Tcc>Gcc		synaptogyrin 1							99.0	107.0	104.0					22																	39772188		2203	4300	6503	SO:0001583	missense	9145							g.chr22:39772188T>G	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.469T>G	22.37:g.39772188T>G	ENSP00000332287:p.Ser157Ala					SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A	p.S157A	NM_004711.4	NP_004702.2					3	484	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.469T>G	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622312	0.87460	.	.	ENSG00000100321	ENST00000318801;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.21	4.18	0.49190	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.92077	3.27	0.58432	D	0.999999	D;P;D;D	0.69078	0.997;0.824;0.996;0.997	D;B;D;D	0.80764	0.994;0.3;0.936;0.993	T	0.64381	-0.6421	10	0.59425	D	0.04	.	10.8901	0.46990	0.0:0.0739:0.0:0.9261	.	158;151;157;157	O43759-3;Q59FT7;O43759;O43759-2	.;.;SNG1_HUMAN;.	A	157;157;157;158	ENSP00000318845:S157A;ENSP00000385447:S157A;ENSP00000332287:S157A;ENSP00000370946:S158A	ENSP00000318845:S157A	S	+	1	0	SYNGR1	38102134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	0.933000	0.37291	0.454000	0.30748	TCC		0.637	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		35	51	0	0	0	0.00111076	0	35	51				
DNAI2	64446	broad.mit.edu	37	17	72285736	72285736	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72285736C>T	ENST00000311014.6	+	5	538	c.471C>T	c.(469-471)gaC>gaT	p.D157D	DNAI2_ENST00000579490.1_Silent_p.D214D|DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(640-642)gaC>gaT		dynein, axonemal, intermediate chain 2							43.0	45.0	44.0					17																	72285736		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285736C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.471C>T	17.37:g.72285736C>T						DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D|DNAI2_ENST00000311014.6_Silent_p.D157D|DNAI2_ENST00000582036.1_Silent_p.D157D	p.D214D			Q9GZS0	DNAI2_HUMAN			4	777	+			157					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.642C>T	CCDS11697.1																																																																																				0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		22	34	0	0	0	0.00188189	0	22	34				
IL4	3565	broad.mit.edu	37	5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542																																						ENST00000231449.2																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(214-216)Gct>Act		interleukin 4							112.0	116.0	115.0					5																	132015436		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132015436G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.214G>A	5.37:g.132015436G>A	ENSP00000231449:p.Ala72Thr					IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	p.A72T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	3	279	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	72					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.214G>A	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013551	0.93346	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.65549	-0.16;-0.16	5.57	5.57	0.84162	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.127761	0.36409	N	0.002618	T	0.78110	0.4232	M	0.73430	2.235	0.41441	D	0.987924	D;D	0.67145	0.996;0.996	D;D	0.70935	0.971;0.971	T	0.80473	-0.1367	10	0.72032	D	0.01	-9.4664	15.0587	0.71936	0.0:0.0:1.0:0.0	.	56;72	Q5FC01;P05112	.;IL4_HUMAN	T	72;56	ENSP00000231449:A72T;ENSP00000325190:A56T	ENSP00000231449:A72T	A	+	1	0	IL4	132043335	0.964000	0.33143	0.992000	0.48379	0.993000	0.82548	2.916000	0.48813	2.638000	0.89438	0.650000	0.86243	GCT		0.542	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		63	124	0	0	0	0.000781405	0	63	124				
KCNJ12	3768	broad.mit.edu	37	17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	371				S -> R (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCTGCTGCCCAGCGCCAACTC	0.607										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(1111-1113)Agc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 12							93.0	86.0	89.0					17																	21319765		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319765A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1111A>T	17.37:g.21319765A>T	ENSP00000463778:p.Ser371Cys	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	p.S371C	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	2006	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1111A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781484	0.49891	.	.	ENSG00000184185	ENST00000331718	D	0.94184	-3.37	5.65	4.57	0.56435	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.337788	0.37012	N	0.002288	D	0.94631	0.8269	L	0.60455	1.87	0.41906	D	0.990449	D	0.58970	0.984	D	0.64237	0.923	D	0.93838	0.7134	10	0.56958	D	0.05	.	9.4714	0.38844	0.8572:0.0:0.1428:0.0	.	371	Q14500	IRK12_HUMAN	C	371	ENSP00000328150:S371C	ENSP00000328150:S371C	S	+	1	0	KCNJ12	21260358	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.380000	0.59581	0.975000	0.38392	0.523000	0.50628	AGC		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	84	0	0	0	0.00198382	0	5	84				
EPM2AIP1	9852	broad.mit.edu	37	3	37033930	37033930	+	Silent	SNP	G	G	A	rs376388178		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(637-639)aaC>aaT		EPM2A (laforin) interacting protein 1		G		1,4023		0,1,2011	87.0	88.0	88.0		639	3.6	1.0	3		88	1,8353		0,1,4176	no	coding-synonymous	EPM2AIP1	NM_014805.3		0,2,6187	AA,AG,GG		0.012,0.0249,0.0162		213/608	37033930	2,12376	2012	4177	6189	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37033930G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.639C>T	3.37:g.37033930G>A							p.N213N	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	865	-			213					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.639C>T	CCDS46790.1																																																																																				0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		6	97	0	0	0	0.00116845	0	6	97				
TSPY1	7258	broad.mit.edu	37	Y	9305927	9305927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrY:9305927C>G	ENST00000451548.1	+	3	629	c.583C>G	c.(583-585)Cct>Gct	p.P195A	AC006156.1_ENST00000423213.1_Intron|TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000450145.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	195			P -> R. {ECO:0000269|PubMed:10773691, ECO:0000269|PubMed:11173833}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(4)	4						AGAGAAGCATCCTGTTCATCT	0.443																																						ENST00000451548.1																			0				lung(4)	4						c.(583-585)Cct>Gct		testis specific protein, Y-linked 1																																				SO:0001583	missense	7258				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9305927C>G		CCDS48205.1, CCDS76071.1	Yp11.2	2009-08-06	2004-04-05	2004-04-07					12381	protein-coding gene	gene with protein product	"""cancer/testis antigen 78"""	480100	"""testis specific protein, Y-linked"""	TSPY			Standard	NM_003308		Approved	CT78	uc004frw.4	Q01534		ENST00000451548.1:c.583C>G	Y.37:g.9305927C>G	ENSP00000403304:p.Pro195Ala					TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000423213.1_Intron	p.P195A	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN			3	629	+			195		P -> R.			A6NJD2|O00216|P09002|Q0VAD3|Q9UNN7	Missense_Mutation	SNP	ENST00000451548.1	37	c.583C>G	CCDS48205.1	.	.	.	.	.	.	.	.	.	.	.	2.940	-0.219210	0.06101	.	.	ENSG00000258992	ENST00000423647	T	0.26067	1.76	.	.	.	.	.	.	.	.	T	0.28034	0.0691	L	0.61036	1.89	.	.	.	D;D	0.89917	0.996;1.0	D;D	0.87578	0.966;0.998	T	0.07790	-1.0754	5	.	.	.	.	.	.	.	.	195;195	Q01534-2;Q01534	.;TSPY1_HUMAN	A	201	ENSP00000389324:P201A	.	P	+	1	0	TSPY1	9915927	0.217000	0.23597	0.000000	0.03702	0.000000	0.00434	0.684000	0.25364	0.000000	0.14550	0.000000	0.15137	CCT		0.443	TSPY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413463.1	NM_003308		20	139	0	0	0	0.00188189	0	20	139				
TINAG	27283	broad.mit.edu	37	6	54245333	54245333	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1258-1260)acA>acT		tubulointerstitial nephritis antigen							104.0	112.0	109.0					6																	54245333		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54245333A>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1260A>T	6.37:g.54245333A>T							p.T420T	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		10	1356	+	Lung NSC(77;0.0518)		420					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1260A>T	CCDS4955.1																																																																																				0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		4	11	0	0	0	0.00024832	0	4	11				
CACNG6	59285	broad.mit.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C	rs538013052	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P|CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736																																						ENST00000252729.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(43-45)cGg>cCg		calcium channel, voltage-dependent, gamma subunit 6							9.0	12.0	11.0					19																	54496175		1234	2522	3756	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54496175G>C	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.44G>C	19.37:g.54496175G>C	ENSP00000252729:p.Arg15Pro					CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	1	634	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		15						Missense_Mutation	SNP	ENST00000252729.2	37	c.44G>C	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.375982	0.61735	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.32753	1.46;1.44;1.46	2.97	2.97	0.34412	.	0.571192	0.15452	U	0.261622	T	0.37999	0.1024	N	0.24115	0.695	0.34679	D	0.724482	D;D;D	0.76494	0.994;0.999;0.998	P;D;D	0.85130	0.885;0.997;0.992	T	0.50083	-0.8869	10	0.59425	D	0.04	-15.2774	9.5302	0.39189	0.0:0.0:1.0:0.0	.	15;15;15	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	P	15	ENSP00000252729:R15P;ENSP00000319135:R15P;ENSP00000319097:R15P	ENSP00000252729:R15P	R	+	2	0	CACNG6	59187987	0.641000	0.27251	0.928000	0.36995	0.959000	0.62525	1.098000	0.31000	1.671000	0.50874	0.471000	0.43371	CGG		0.736	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			8	17	0	0	0	0.000157383	0	8	17				
PON2	5445	broad.mit.edu	37	7	95039308	95039308	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:95039308G>A	ENST00000222572.3	-	6	846	c.600C>T	c.(598-600)caC>caT	p.H200H	PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Silent_p.H221H			Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(661-663)caC>caT		paraoxonase 2							151.0	146.0	148.0					7																	95039308		2203	4300	6503	SO:0001819	synonymous_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039308G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.600C>T	7.37:g.95039308G>A						PON2_ENST00000222572.3_Silent_p.H200H|PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000483292.1_5'UTR	p.H221H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	846	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		200					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Silent	SNP	ENST00000222572.3	37	c.663C>T	CCDS5640.1																																																																																				0.373	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		23	54	0	0	0	0.00229938	0	23	54				
PGGT1B	5229	broad.mit.edu	37	5	114588910	114588910	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTAAGGAATCCAACATATCCA	0.363																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(181-183)ttG>ttA		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						121.0	121.0	121.0					5																	114588910		2202	4300	6502	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114588910C>T		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.183G>A	5.37:g.114588910C>T						PGGT1B_ENST00000379615.3_Silent_p.L61L	p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	2	203	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	61					Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.183G>A	CCDS4116.1																																																																																				0.363	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		11	50	0	0	0	0.00136819	0	11	50				
HOXB2	3212	broad.mit.edu	37	17	46620658	46620658	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(841-843)ggG>ggA		homeobox B2							13.0	17.0	16.0					17																	46620658		2081	4080	6161	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620658C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.843G>A	17.37:g.46620658C>T							p.G281G	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2010	-			281					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.843G>A	CCDS11527.1																																																																																				0.711	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			9	48	0	0	0	0.000274275	0	9	48				
CDCP1	64866	broad.mit.edu	37	3	45127378	45127378	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2263-2265)Ctg>Ttg		CUB domain containing protein 1							113.0	110.0	111.0					3																	45127378		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127378G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2263C>T	3.37:g.45127378G>A							p.L755L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2397	-			755					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.2263C>T	CCDS2727.1																																																																																				0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		71	41	0	0	0	0.000781405	0	71	41				
CERK	64781	broad.mit.edu	37	22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(694-696)Cgg>Tgg		ceramide kinase							88.0	96.0	93.0					22																	47103761		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47103761G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.694C>T	22.37:g.47103761G>A	ENSP00000216264:p.Arg232Trp					CERK_ENST00000541677.1_Missense_Mutation_p.R34W	p.R232W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	806	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	232			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.694C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584448	0.46110	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.14266	2.52;2.52	5.01	-9.86	0.00473	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.90922	3.16	0.41100	D	0.98566	D	0.89917	1.0	D	0.76071	0.987	T	0.71272	-0.4642	10	0.72032	D	0.01	-33.8038	18.7241	0.91708	0.0:0.0:0.1476:0.8524	.	232	Q8TCT0	CERK1_HUMAN	W	232;34	ENSP00000216264:R232W;ENSP00000438659:R34W	ENSP00000216264:R232W	R	-	1	2	CERK	45482425	0.150000	0.22732	0.000000	0.03702	0.038000	0.13279	0.346000	0.19997	-1.127000	0.02925	-0.181000	0.13052	CGG		0.602	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	109	0	0	0	0.000566183	0	16	109				
GRM3	2913	broad.mit.edu	37	7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACCTTGTTTTAGGGGGCCTG	0.413																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(121-123)tTa>tCa		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						100.0	104.0	103.0					7																	86394583		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394583T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.122T>C	7.37:g.86394583T>C	ENSP00000355316:p.Leu41Ser					GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	p.L41S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			2	1221	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		41					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.122T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308306	0.81247	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.93452	0.7911	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.909	D	0.94330	0.7561	10	0.87932	D	0	.	14.4674	0.67492	0.0:0.0:0.0:1.0	.	41;41	G5E9K2;Q14832	.;GRM3_HUMAN	S	41;41;39;41;41	ENSP00000355316:L41S;ENSP00000398767:L41S;ENSP00000378209:L39S;ENSP00000390037:L41S;ENSP00000407490:L41S	ENSP00000355316:L41S	L	+	2	0	GRM3	86232519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	2.206000	0.71126	0.533000	0.62120	TTA		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			23	48	0	0	0	0.00229938	0	23	48				
TTYH2	94015	broad.mit.edu	37	17	72233624	72233624	+	Silent	SNP	C	C	T	rs563788375		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.001					ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(604-606)tcC>tcT		tweety family member 2							70.0	63.0	65.0					17																	72233624		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233624C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.606C>T	17.37:g.72233624C>T						TTYH2_ENST00000529107.1_Silent_p.S181S	p.S202S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			4	680	+			202					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.606C>T	CCDS32717.1																																																																																				0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			7	64	0	0	0	0.000157383	0	7	64				
FAM184A	79632	broad.mit.edu	37	6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1348-1350)aAg>aGg		family with sequence similarity 184, member A							84.0	79.0	81.0					6																	119338093		1803	4066	5869	SO:0001583	missense	79632							g.chr6:119338093T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1349A>G	6.37:g.119338093T>C	ENSP00000342604:p.Lys450Arg					FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R	p.K450R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1792	-			450					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1349A>G	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.91|11.91	1.780215|1.780215	0.31502|0.31502	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00360|.	7.86;7.86;7.86;7.86;7.86|.	4.94|4.94	3.76|3.76	0.43208|0.43208	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.16656|0.16656	0.425|0.425	0.44908|0.44908	D|D	0.997924|0.997924	B;B;B|.	0.10296|.	0.001;0.003;0.001|.	B;B;B|.	0.12156|.	0.005;0.004;0.007|.	T|T	0.05321|0.05321	-1.0892|-1.0892	10|5	0.09843|.	T|.	0.71|.	-18.0805|-18.0805	7.7618|7.7618	0.28957|0.28957	0.0:0.1941:0.0:0.8059|0.0:0.1941:0.0:0.8059	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	R|G	450;330;330;450;330|36	ENSP00000342604:K450R;ENSP00000326608:K330R;ENSP00000357460:K330R;ENSP00000430442:K450R;ENSP00000429826:K330R|.	ENSP00000342604:K450R|.	K|R	-|-	2|1	0|2	FAM184A|FAM184A	119379792|119379792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	3.408000|3.408000	0.52651|0.52651	1.876000|1.876000	0.54355|0.54355	0.402000|0.402000	0.26972|0.26972	AAG|AGA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	35	0	0	0	0.000673444	0	11	35				
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C	rs375815032	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:17611496G>C	ENST00000262102.6	-	2	2045	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						ENST00000381869.3																			2	Substitution - coding silent(2)	p.A607A(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1819-1821)gcC>gcG		microtubule associated tumor suppressor 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>G	8.37:g.17611496G>C						MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000262102.6_Silent_p.A607A	p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2294	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>G	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		5	167	0	0	0	0.000602214	0	5	167				
FAM83H	286077	broad.mit.edu	37	8	144808544	144808544	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTACAAGGCGTTGGCCGTGG	0.692																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3085-3087)aaC>aaT		family with sequence similarity 83, member H							17.0	23.0	21.0					8																	144808544		2124	4233	6357	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808544G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3087C>T	8.37:g.144808544G>A							p.N1029N	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3212	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1029					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3087C>T	CCDS6410.2																																																																																				0.692	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		5	10	0	0	0	0.000602214	0	5	10				
OR4K5	79317	broad.mit.edu	37	14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(277-279)tCt>tAt		olfactory receptor, family 4, subfamily K, member 5							268.0	286.0	280.0					14																	20389043		2203	4299	6502	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389043C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.278C>A	14.37:g.20389043C>A	ENSP00000319511:p.Ser93Tyr						p.S93Y	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	303	+	all_cancers(95;0.00108)		93					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.278C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.08	3.298180	0.60195	.	.	ENSG00000176281	ENST00000315915	T	0.00745	5.75	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.07188	0.0182	H	0.95712	3.71	0.31163	N	0.704121	D	0.89917	1.0	D	0.70487	0.969	T	0.02232	-1.1191	10	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	93	Q8NGD3	OR4K5_HUMAN	Y	93	ENSP00000319511:S93Y	ENSP00000319511:S93Y	S	+	2	0	OR4K5	19458883	0.942000	0.31987	0.861000	0.33841	0.944000	0.59088	3.317000	0.51968	2.269000	0.75478	0.655000	0.94253	TCT		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		57	295	1	0	8.99859e-20	0.000781405	4.0899e-19	57	295				
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438																																						ENST00000502773.1																			1	Substitution - Missense(1)	p.E261K(1)	skin(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(781-783)Gaa>Aaa		platelet derived growth factor C							188.0	173.0	178.0					4																	157689065		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689065C>T	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.781G>A	4.37:g.157689065C>T	ENSP00000422464:p.Glu261Lys					PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K	p.E261K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1271	-	all_hematologic(180;0.24)	Renal(120;0.0458)	261					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.781G>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578593	0.96565	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.44083	2.41;0.94;0.93	5.35	5.35	0.76521	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.64567	1.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.63554	-0.6611	10	0.49607	T	0.09	-15.1184	19.0757	0.93161	0.0:1.0:0.0:0.0	.	106;261	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	K	261;98;106	ENSP00000422464:E261K;ENSP00000442943:E98K;ENSP00000439728:E106K	ENSP00000422464:E261K	E	-	1	0	PDGFC	157908515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.505000	0.84491	0.655000	0.94253	GAA		0.438	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			38	90	0	0	0	0.00148497	0	38	90				
JPH1	56704	broad.mit.edu	37	8	75227563	75227563	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(670-672)cgC>cgG		junctophilin 1							70.0	75.0	73.0					8																	75227563		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227563G>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.672C>G	8.37:g.75227563G>C							p.R224R	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	712	-	Breast(64;0.00576)		224					B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.672C>G	CCDS6217.1																																																																																				0.582	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	104	0	0	0	0.00136819	0	9	104				
PPAPDC1A	196051	broad.mit.edu	37	10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(346-348)Tgc>Agc		phosphatidic acid phosphatase type 2 domain containing 1A							93.0	92.0	93.0					10																	122280508		1879	4105	5984	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280508T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.346T>A	10.37:g.122280508T>A	ENSP00000381302:p.Cys116Ser					PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000439221.1_Intron	p.C116S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	698	+		Lung NSC(174;0.1)|all_lung(145;0.132)	116					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.346T>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872719	0.91587	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.98;1.0	D	0.95765	0.8804	10	0.87932	D	0	-23.9746	16.0707	0.80928	0.0:0.0:0.0:1.0	.	116;116	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	S	116;116;116;106	ENSP00000381302:C116S;ENSP00000407979:C116S;ENSP00000440493:C116S;ENSP00000358069:C106S	ENSP00000358069:C106S	C	+	1	0	PPAPDC1A	122270498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	TGC		0.512	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		21	57	0	0	0	0.00188189	0	21	57				
GBGT1	26301	broad.mit.edu	37	9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136037789C>T	ENST00000372040.3	-	2	322	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|RALGDS_ENST00000542690.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	4					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGCCAGTCTCCGGCGATGCAT	0.662																																						ENST00000542690.1										T					CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(10-12)cGg>cAg		ral guanine nucleotide dissociation stimulator							33.0	29.0	30.0					9																	136037789		2202	4297	6499	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136037789C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.11G>A	9.37:g.136037789C>T	ENSP00000361110:p.Arg4Gln					GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372040.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q	p.R4Q			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	2	291	-			0					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.11G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530024	0.13127	.	.	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.33865	1.76;2.13;5.0;5.01;1.39;1.47	2.6	-5.2	0.02823	.	4.129620	0.00909	N	0.002451	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26708	0.157;0.0;0.0;0.157	B;B;B;B	0.15052	0.007;0.0;0.001;0.012	T	0.07986	-1.0744	10	0.42905	T	0.14	-9.577	1.775	0.03019	0.1158:0.4005:0.2319:0.2519	.	4;4;4;4	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	Q	4	ENSP00000437518:R4Q;ENSP00000361113:R4Q;ENSP00000361110:R4Q;ENSP00000437663:R4Q;ENSP00000361108:R4Q;ENSP00000361106:R4Q	ENSP00000361106:R4Q	R	-	2	0	GBGT1;RALGDS	135027610	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.988000	0.01482	-2.968000	0.00287	-0.657000	0.03884	CGG		0.662	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		5	15	0	0	0	0.00116845	0	5	15				
IKZF2	22807	broad.mit.edu	37	2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:213878608T>C	ENST00000434687.1	-	8	1072	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000457361.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V|IKZF2_ENST00000421754.2_Intron|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(763-765)Att>Gtt		IKAROS family zinc finger 2 (Helios)							129.0	127.0	128.0					2																	213878608		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878608T>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.763A>G	2.37:g.213878608T>C	ENSP00000412869:p.Ile255Val					IKZF2_ENST00000434687.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V|IKZF2_ENST00000413091.3_3'UTR	p.I255V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	931	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	255					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.763A>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701555	0.48307	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.14144	3.27;3.23;3.27;3.31;3.34;2.53	5.4	5.4	0.78164	.	0.068551	0.64402	D	0.000011	T	0.14141	0.0342	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.004;0.001;0.0;0.001	T	0.03608	-1.1020	10	0.33940	T	0.23	-0.3349	11.6754	0.51427	0.0:0.0:0.1479:0.8521	.	183;110;229;255;33	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	V	255;261;255;229;183;110	ENSP00000410447:I255V;ENSP00000342876:I261V;ENSP00000412869:I255V;ENSP00000363439:I229V;ENSP00000395203:I183V;ENSP00000363447:I110V	ENSP00000342876:I261V	I	-	1	0	IKZF2	213586853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	2.171000	0.68590	0.459000	0.35465	ATT		0.388	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		38	70	0	0	0	0.00148497	0	38	70				
ADCYAP1R1	117	broad.mit.edu	37	7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(496-498)gTc>gAc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							292.0	215.0	241.0					7																	31124410		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124410T>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.497T>A	7.37:g.31124410T>A	ENSP00000306620:p.Val166Asp					ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D	p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			8	786	+			166					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.497T>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492594	0.84962	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.52057	1.0;0.97;0.68;0.68	5.8	4.62	0.57501	GPCR, family 2-like (1);	0.064020	0.64402	D	0.000009	T	0.68293	0.2985	M	0.85197	2.74	0.80722	D	1	P;P;P;B;B	0.48503	0.612;0.738;0.911;0.425;0.425	P;P;D;P;P	0.63793	0.698;0.776;0.918;0.629;0.721	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.2984	0.43637	0.0:0.0786:0.0:0.9214	.	166;166;166;145;166	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	D	166;145;166;166	ENSP00000306620:V166D;ENSP00000387335:V145D;ENSP00000379514:V166D;ENSP00000386395:V166D	ENSP00000306620:V166D	V	+	2	0	ADCYAP1R1	31090935	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	5.100000	0.64560	0.978000	0.38470	0.533000	0.62120	GTC		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		30	79	0	0	0	0.000814825	0	30	79				
HEATR1	55127	broad.mit.edu	37	1	236714247	236714247	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(6388-6390)caG>caA		HEAT repeat containing 1							136.0	135.0	136.0					1																	236714247		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236714247C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6390G>A	1.37:g.236714247C>T						LGALS8_ENST00000526589.1_3'UTR|LGALS8_ENST00000366584.4_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q	p.Q2130Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		45	6504	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2130					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.6390G>A	CCDS31066.1																																																																																				0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		30	38	0	0	0	0.0024448	0	30	38				
HEPHL1	341208	broad.mit.edu	37	11	93806191	93806191	+	Splice_Site	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1233T>G	c.(1231-1233)agT>agG	p.S411R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.e7-1		hephaestin-like 1							66.0	62.0	63.0					11																	93806191		1883	4110	5993	SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93806191T>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1233-1T>G	11.37:g.93806191T>G							p.S411_splice	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			7	1241	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	411			Plastocyanin-like 3.		Q3C1W7	Splice_Site	SNP	ENST00000315765.9	37	c.1232_splice	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419111	0.62622	.	.	ENSG00000181333	ENST00000315765	D	0.99005	-5.32	5.66	3.37	0.38596	Cupredoxin (2);	0.124872	0.64402	D	0.000001	D	0.97782	0.9272	L	0.56280	1.765	0.40428	D	0.979911	P	0.45569	0.861	P	0.48189	0.57	D	0.95651	0.8707	9	.	.	.	.	8.1937	0.31383	0.0:0.2164:0.0:0.7836	.	411	Q6MZM0	HPHL1_HUMAN	R	411	ENSP00000313699:S411R	.	S	+	3	2	HEPHL1	93445839	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.027000	0.30115	0.440000	0.26502	0.528000	0.53228	AGT		0.368	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Missense_Mutation	8	21	0	0	0	0.000274275	0	8	21				
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000545297.1_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.S49S	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(145-147)agC>agT		surfeit 4							119.0	95.0	103.0					9																	136234223		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234223G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.147C>T	9.37:g.136234223G>A						SURF4_ENST00000485435.2_Silent_p.S49S|SURF4_ENST00000545297.1_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR	p.S49S	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	276	-			49					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.147C>T	CCDS6968.1																																																																																				0.597	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		22	25	0	0	0	0.00278032	0	22	25				
ANKRD30B	374860	broad.mit.edu	37	18	14797798	14797798	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:14797798A>G	ENST00000358984.4	+	20	2154	c.1974A>G	c.(1972-1974)aaA>aaG	p.K658K	ANKRD30B_ENST00000579292.1_3'UTR	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	658										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGGAAGGAAAGTTTCTCTTC	0.279																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1972-1974)aaA>aaG		ankyrin repeat domain 30B							83.0	69.0	73.0					18																	14797798		692	1589	2281	SO:0001819	synonymous_variant	374860							g.chr18:14797798A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1974A>G	18.37:g.14797798A>G						ANKRD30B_ENST00000579292.1_3'UTR	p.K658K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			20	2154	+			658					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.1974A>G	CCDS54182.1																																																																																				0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		2	1	0	0	0	6.4e-05	0	2	1				
PPP1R3A	5506	broad.mit.edu	37	7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2164-2166)Act>Gct		protein phosphatase 1, regulatory subunit 3A							176.0	170.0	172.0					7																	113518983		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518983T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2164A>G	7.37:g.113518983T>C	ENSP00000284601:p.Thr722Ala						p.T722A	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2232	-			722					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2164A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319893	0.41096	.	.	ENSG00000154415	ENST00000284601	T	0.21361	2.01	6.01	0.802	0.18686	.	0.481828	0.21155	N	0.079251	T	0.18718	0.0449	M	0.66939	2.045	0.25387	N	0.988568	P	0.52316	0.952	B	0.41860	0.368	T	0.19582	-1.0301	10	0.72032	D	0.01	-2.3231	3.0877	0.06283	0.1102:0.1274:0.1287:0.6337	.	722	Q16821	PPR3A_HUMAN	A	722	ENSP00000284601:T722A	ENSP00000284601:T722A	T	-	1	0	PPP1R3A	113306219	1.000000	0.71417	0.903000	0.35520	0.718000	0.41266	1.044000	0.30329	-0.081000	0.12662	-0.297000	0.09499	ACT		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	139	0	0	0	0.00024832	0	3	139				
NXPE3	91775	broad.mit.edu	37	3	101535734	101535734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:101535734C>T	ENST00000491511.2	+	7	1974	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	NXPE3_ENST00000422132.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	340						extracellular region (GO:0005576)											TAAGATGCGTCAGTTTAATGA	0.393																																						ENST00000422132.1																			0											c.(1018-1020)Cag>Tag		neurexophilin and PC-esterase domain family, member 3							142.0	139.0	140.0					3																	101535734		2203	4300	6503	SO:0001587	stop_gained	91775							g.chr3:101535734C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1018C>T	3.37:g.101535734C>T	ENSP00000417485:p.Gln340*					NXPE3_ENST00000491511.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*	p.Q340*							4	1215	+								A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	ENST00000491511.2	37	c.1018C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	46	12.144701	0.99640	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	5.71	5.71	0.89125	.	0.205125	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.5368	16.4748	0.84129	0.1316:0.8684:0.0:0.0	.	.	.	.	X	340	.	ENSP00000273347:Q340X	Q	+	1	0	FAM55C	103018424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.022000	0.70839	2.861000	0.98227	0.650000	0.86243	CAG		0.393	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		7	92	0	0	0	0.00198382	0	7	92				
C11orf84	144097	broad.mit.edu	37	11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(175-177)gCa>gAa		chromosome 11 open reading frame 84							40.0	35.0	36.0					11																	63585325		2201	4297	6498	SO:0001583	missense	144097							g.chr11:63585325C>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.176C>A	11.37:g.63585325C>A	ENSP00000294244:p.Ala59Glu						p.A59E	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			2	475	+			59					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.176C>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438343	0.62955	.	.	ENSG00000168005	ENST00000294244	T	0.46063	0.88	5.24	3.26	0.37387	.	1.177730	0.06190	N	0.681107	T	0.35307	0.0927	L	0.51422	1.61	0.09310	N	0.999991	P	0.36837	0.571	B	0.29598	0.104	T	0.35201	-0.9798	10	0.87932	D	0	-3.2663	6.509	0.22212	0.0:0.7201:0.1828:0.0971	.	59	Q9BUA3	CK084_HUMAN	E	59	ENSP00000294244:A59E	ENSP00000294244:A59E	A	+	2	0	C11orf84	63341901	0.524000	0.26282	0.570000	0.28473	0.015000	0.08874	1.277000	0.33167	1.233000	0.43693	0.561000	0.74099	GCA		0.637	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		4	12	1	0	2.56e-06	0.00024832	1.01694e-05	4	12				
TECPR2	9895	broad.mit.edu	37	14	102900897	102900897	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1741-1743)ctG>ctT		tectonin beta-propeller repeat containing 2							80.0	63.0	68.0					14																	102900897		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102900897G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1743G>T	14.37:g.102900897G>T						TECPR2_ENST00000558678.1_Silent_p.L581L	p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	1969	+			581					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1743G>T	CCDS32162.1																																																																																				0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	30	1	0	1.58986e-06	0.000673444	6.3406e-06	11	30				
OXGR1	27199	broad.mit.edu	37	13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(259-261)cCc>cAc		oxoglutarate (alpha-ketoglutarate) receptor 1							81.0	75.0	77.0					13																	97639754		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639754G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.260C>A	13.37:g.97639754G>T	ENSP00000298440:p.Pro87His					OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	503	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		87					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.260C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447453	0.84101	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.73897	-0.79;-0.79	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.85945	2.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89519	0.3777	10	0.87932	D	0	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	87	Q96P68	OXGR1_HUMAN	H	87	ENSP00000298440:P87H;ENSP00000438800:P87H	ENSP00000298440:P87H	P	-	2	0	OXGR1	96437755	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	CCC		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		10	16	1	0	2.17888e-05	0.000442599	8.48837e-05	10	16				
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11141507G>T	ENST00000429416.3	+	26	3765	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3484-3486)Ggc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							24.0	25.0	25.0					19																	11141507		2197	4297	6494	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141507G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3484G>T	19.37:g.11141507G>T	ENSP00000395654:p.Gly1162Cys					SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C	p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3768	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1162			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3484G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591560	0.86953	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98581	1.0650	10	0.87932	D	0	-37.1265	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1162;1162;1162;1162;1162;382;1162;1162	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	1162;1162;1226;1162;1162;1162;1162;1162	ENSP00000395654:G1162C;ENSP00000350720:G1162C;ENSP00000343896:G1162C;ENSP00000445036:G1162C;ENSP00000392837:G1162C;ENSP00000397783:G1162C;ENSP00000414727:G1162C	ENSP00000343896:G1162C	G	+	1	0	SMARCA4	11002507	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGC		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	7	1	0	3.59834e-05	0.00116845	0.000139108	6	7				
BTRC	8945	broad.mit.edu	37	10	103291078	103291078	+	Silent	SNP	A	A	T	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000393441.4_Silent_p.I235I|BTRC_ENST00000408038.2_Silent_p.I240I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(826-828)atA>atT		beta-transducin repeat containing E3 ubiquitin protein ligase							72.0	79.0	77.0					10																	103291078		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103291078A>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.828A>T	10.37:g.103291078A>T						BTRC_ENST00000408038.2_Silent_p.I240I|BTRC_ENST00000393441.4_Silent_p.I235I	p.I276I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	7	946	+		Colorectal(252;0.234)	276					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.828A>T	CCDS7512.1																																																																																				0.368	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		24	50	0	0	0	0.00278032	0	24	50				
KRTAP19-7	337974	broad.mit.edu	37	21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552																																						ENST00000334849.2																			0				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						c.(43-45)tGt>tAt		keratin associated protein 19-7							131.0	115.0	120.0					21																	31933565		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933565C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.44G>A	21.37:g.31933565C>T	ENSP00000334696:p.Cys15Tyr						p.C15Y	NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN			1	68	-			15					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.44G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	0.092	-1.165832	0.01673	.	.	ENSG00000244362	ENST00000334849	T	0.09073	3.02	3.62	-7.24	0.01475	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41893	-0.9483	8	0.87932	D	0	.	4.6685	0.12676	0.4057:0.3837:0.0:0.2105	.	15	Q3SYF9	KR197_HUMAN	Y	15	ENSP00000334696:C15Y	ENSP00000334696:C15Y	C	-	2	0	KRTAP19-7	30855436	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.673000	0.01951	-1.856000	0.01161	-0.708000	0.03648	TGT		0.552	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			23	75	0	0	0	0.00278032	0	23	75				
ZEB2	9839	broad.mit.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			1	Substitution - Missense(1)	p.P893S(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2677-2679)Cct>Tct		zinc finger E-box binding homeobox 2							168.0	160.0	162.0					2																	145156077		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156077G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2677C>T	2.37:g.145156077G>A	ENSP00000454157:p.Pro893Ser					ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S	p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3861	-			893					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2677C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067176	0.55539	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14766	2.52;2.48;2.48	5.96	5.08	0.68730	.	0.092903	0.85682	D	0.000000	T	0.34454	0.0898	M	0.68593	2.085	0.80722	D	1	D;B;P;P	0.76494	0.999;0.104;0.798;0.798	P;B;B;B	0.62885	0.908;0.081;0.3;0.3	T	0.12116	-1.0560	10	0.72032	D	0.01	-1.6034	16.3329	0.83049	0.0:0.0:0.8604:0.1396	.	869;758;892;893	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	869;893;893	ENSP00000443792:P869S;ENSP00000302501:P893S;ENSP00000386854:P893S	ENSP00000302501:P893S	P	-	1	0	ZEB2	144872547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	1.489000	0.48450	0.655000	0.94253	CCT		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	177	0	0	0	0.000673444	0	9	177				
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:37881982G>A	ENST00000269571.5	+	23	2907	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.M886I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	GGGAGCTGATGACTTTTGGGG	0.602		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"""		0				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.(2656-2658)atG>atA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						114.0	93.0	100.0					17																	37881982		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.chr17:37881982G>A	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.2748G>A	17.37:g.37881982G>A	ENSP00000269571:p.Met916Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I	p.M886I	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)	25	3168	+	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)	916			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2658G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295345	0.60086	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81749	0.4888	N	0.11106	0.095	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.81914	0.964;0.995;0.974	D	0.85988	0.1487	9	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	640;901;916	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	886;901;640;916;886	ENSP00000385185:M886I;ENSP00000446466:M901I;ENSP00000404047:M640I;ENSP00000269571:M916I;ENSP00000443562:M886I	ENSP00000269571:M916I	M	+	3	0	ERBB2	35135508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	ATG		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	64	0	0	0	0.00116845	0	6	64				
PLEKHN1	84069	broad.mit.edu	37	1	906364	906364	+	Missense_Mutation	SNP	G	G	A	rs370898773	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736													G|||	2	0.000399361	0.0	0.0014	5008	,	,		10953	0.001		0.0	False		,,,				2504	0.0					ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(709-711)cGc>cAc		pleckstrin homology domain containing, family N member 1		G	HIS/ARG,HIS/ARG	2,3696		0,2,1847	5.0	8.0	7.0		590,590	0.2	0.1	1		7	1,7731		0,1,3865	no	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	29,29	0,3,5712	AA,AG,GG		0.0129,0.0541,0.0262	benign,benign	197/577,197/612	906364	3,11427	1849	3866	5715	SO:0001583	missense	84069							g.chr1:906364G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.710G>A	1.37:g.906364G>A	ENSP00000368719:p.Arg237His					PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H	p.R237H			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	740	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	237					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.710G>A		.	.	.	.	.	.	.	.	.	.	G	1.703	-0.501032	0.04261	5.41E-4	1.29E-4	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.46451	0.87;0.95;0.9	4.4	0.243	0.15503	.	1.285040	0.05166	N	0.498738	T	0.38081	0.1027	L	0.47716	1.5	0.20975	N	0.999816	B;B;B	0.15930	0.0;0.015;0.003	B;B;B	0.09377	0.001;0.004;0.001	T	0.33163	-0.9879	10	0.41790	T	0.15	.	10.0715	0.42337	0.3295:0.0:0.6705:0.0	.	197;237;197	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	H	197;197;237	ENSP00000368720:R197H;ENSP00000368717:R197H;ENSP00000368719:R237H	ENSP00000368717:R197H	R	+	2	0	PLEKHN1	896227	0.000000	0.05858	0.100000	0.21137	0.004000	0.04260	-1.298000	0.02756	-0.372000	0.07992	-1.688000	0.00730	CGC		0.736	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	10	0	0	0	0.00116845	0	5	10				
NCAPG2	54892	broad.mit.edu	37	7	158449250	158449250	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:158449250C>T	ENST00000409423.1	-	19	2380	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000409339.3_Silent_p.Q736Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2206-2208)caG>caA		non-SMC condensin II complex, subunit G2							57.0	60.0	59.0					7																	158449250		1987	4174	6161	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158449250C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2208G>A	7.37:g.158449250C>T						NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q|NCAPG2_ENST00000409423.1_Silent_p.Q736Q	p.Q736Q			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	18	2321	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	736					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2208G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.473975	0.01044	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.63	0.489	0.16854	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28870	-1.0030	4	.	.	.	-9.0942	10.5998	0.45360	0.0:0.4706:0.0:0.5294	.	.	.	.	K	538	.	.	R	-	2	0	NCAPG2	158142011	0.041000	0.20044	0.001000	0.08648	0.014000	0.08584	0.143000	0.16115	-0.142000	0.11354	-0.140000	0.14226	AGG		0.468	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		7	55	0	0	0	0.00198382	0	7	55				
TEX13A	56157	broad.mit.edu	37	X	104464103	104464103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:104464103G>T	ENST00000413579.1	-	5	884	c.773C>A	c.(772-774)aCc>aAc	p.T258N	TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.P259T			Q9BXU3	TX13A_HUMAN	testis expressed 13A	258							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(775-777)Cct>Act		testis expressed 13A							59.0	59.0	59.0					X																	104464103		1979	4142	6121	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464103G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.773C>A	X.37:g.104464103G>T	ENSP00000399753:p.Thr258Asn					TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.T258N	p.P259T	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	886	-			0					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.775C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.084301|2.084301	0.36758|0.36758	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	1.5|1.5	0.22942|0.22942	.|.	.|0.747973	.|0.10944	.|N	.|0.616872	T|T	0.32164|0.32164	0.0820|0.0820	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|B	.|0.34290	.|0.447	.|B	.|0.25759	.|0.063	T|T	0.12066|0.12066	-1.0562|-1.0562	6|9	0.87932|0.38643	D|T	0|0.18	.|.	7.2035|7.2035	0.25895|0.25895	0.0:0.0:0.5187:0.4813|0.0:0.0:0.5187:0.4813	.|.	.|258	.|Q9BXU3	.|TX13A_HUMAN	T|N	259|258	.|.	ENSP00000361656:P259T|ENSP00000399753:T258N	P|T	-|-	1|2	0|0	TEX13A|TEX13A	104350759|104350759	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.723000|0.723000	0.25939|0.25939	0.244000|0.244000	0.21351|0.21351	0.513000|0.513000	0.50165|0.50165	CCT|ACC		0.562	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		15	5	1	0	1.15088e-07	0.000422831	4.62644e-07	15	5				
HOXC9	3225	broad.mit.edu	37	12	54396248	54396248	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(571-573)tcC>tcA		homeobox C9							75.0	80.0	78.0					12																	54396248		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396248C>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.573C>A	12.37:g.54396248C>A						HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR	p.S191S	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			2	643	+			191					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.573C>A	CCDS8869.1																																																																																				0.567	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			6	109	1	0	5.18039e-06	0.000157383	2.04981e-05	6	109				
TARDBP	23435	broad.mit.edu	37	1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(910-912)Ggt>Agt		TAR DNA binding protein							80.0	77.0	78.0					1																	11082376		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082376G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.910G>A	1.37:g.11082376G>A	ENSP00000240185:p.Gly304Ser					TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S|TARDBP_ENST00000315091.3_Intron	p.G304S	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	1024	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	304			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.910G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824311	0.71143	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.91237	-2.81;-2.81	5.81	5.81	0.92471	.	0.128561	0.64402	D	0.000001	D	0.92519	0.7624	L	0.31926	0.97	0.80722	D	1	D;B	0.89917	1.0;0.02	D;B	0.75484	0.986;0.014	D	0.89565	0.3809	10	0.20519	T	0.43	-15.4605	20.0825	0.97783	0.0:0.0:1.0:0.0	.	188;304	B4DJ45;Q13148	.;TADBP_HUMAN	S	304;188	ENSP00000240185:G304S;ENSP00000404666:G188S	ENSP00000240185:G304S	G	+	1	0	TARDBP	11004963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.326000	0.59241	2.746000	0.94184	0.655000	0.94253	GGT		0.498	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		6	60	0	0	0	0.00198382	0	6	60				
TMEM168	64418	broad.mit.edu	37	7	112407741	112407741	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:112407741G>C	ENST00000312814.6	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1603-1605)tcC>tcG		transmembrane protein 168							64.0	64.0	64.0					7																	112407741		2203	4300	6503	SO:0001819	synonymous_variant	64418					integral to membrane|transport vesicle		g.chr7:112407741G>C		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1605C>G	7.37:g.112407741G>C						TMEM168_ENST00000454074.1_Silent_p.S535S	p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			5	2165	-			535					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	c.1605C>G	CCDS5757.1																																																																																				0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		17	41	0	0	0	0.000566183	0	17	41				
GLB1	2720	broad.mit.edu	37	3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:33059966C>T	ENST00000399402.3	-	13	1362	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000307363.5_Missense_Mutation_p.D441N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	441					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM064028	GLB1	M		c.(1321-1323)Gat>Aat		galactosidase, beta 1							156.0	153.0	154.0					3																	33059966		1975	4167	6142	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33059966C>T	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1231G>A	3.37:g.33059966C>T	ENSP00000382333:p.Asp411Asn					GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000399402.3_Missense_Mutation_p.D411N|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000497796.1_5'UTR	p.D441N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			13	1465	-		Melanoma(143;0.104)	441		D -> N (in GM1G1).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1321G>A	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329556	0.81690	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	H	0.97415	4	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;0.999;0.999;1.0	D	0.99741	1.1015	10	0.87932	D	0	-26.1881	17.8915	0.88874	0.0:1.0:0.0:0.0	.	441;310;441;489	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	N	411;441;489;310	ENSP00000382333:D411N;ENSP00000306920:D441N;ENSP00000393377:D489N;ENSP00000305920:D310N	ENSP00000306920:D441N	D	-	1	0	GLB1	33034970	1.000000	0.71417	0.803000	0.32268	0.300000	0.27592	6.893000	0.75649	2.514000	0.84764	0.585000	0.79938	GAT		0.507	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		16	70	0	0	0	0.00074312	0	16	70				
GHSR	2693	broad.mit.edu	37	3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	GRCh37	CM077844	GHSR	M		c.(478-480)Gtg>Atg		growth hormone secretagogue receptor							56.0	56.0	56.0					3																	172165726		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165726C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.478G>A	3.37:g.172165726C>T	ENSP00000241256:p.Val160Met					GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	520	-	Ovarian(172;0.00143)|Breast(254;0.197)		160					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.478G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801426	0.90538	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.39056	1.1;1.1	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78597	-0.2142	10	0.87932	D	0	-21.9123	19.5728	0.95428	0.0:1.0:0.0:0.0	.	160;160	Q92847-2;Q92847	.;GHSR_HUMAN	M	160	ENSP00000241256:V160M;ENSP00000395344:V160M	ENSP00000241256:V160M	V	-	1	0	GHSR	173648420	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.786000	0.85741	2.636000	0.89361	0.455000	0.32223	GTG		0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		6	53	0	0	0	0.00116845	0	6	53				
PIWIL3	440822	broad.mit.edu	37	22	25131809	25131809	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1498-1500)ccC>ccT		piwi-like RNA-mediated gene silencing 3							204.0	199.0	201.0					22																	25131809		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131809G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1500C>T	22.37:g.25131809G>A						PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P	p.P500P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			13	1916	-			500						Silent	SNP	ENST00000332271.5	37	c.1500C>T	CCDS33623.1																																																																																				0.383	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		39	103	0	0	0	0.00111076	0	39	103				
PCDHA5	56143	broad.mit.edu	37	5	140202653	140202653	+	Silent	SNP	G	G	A	rs374495677		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1291-1293)tcG>tcA				G	,,,,,,	0,4406		0,0,2203	76.0	82.0	80.0		,,,,1293,,1293	-1.1	0.9	5		80	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,431/937,,431/817	140202653	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56143							g.chr5:140202653G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1293G>A	5.37:g.140202653G>A						PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S431S	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1293G>A	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		12	150	0	0	0	0.000978159	0	12	150				
FAT3	120114	broad.mit.edu	37	11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGTTAGCCCTTTGGATTA	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6733-6735)Cct>Tct		FAT atypical cadherin 3							66.0	61.0	62.0					11																	92532912		1902	4122	6024	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532912C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6733C>T	11.37:g.92532912C>T	ENSP00000298047:p.Pro2245Ser	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S|FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S	p.P2245S			Q8TDW7	FAT3_HUMAN			9	6750	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2245			Cadherin 20.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6733C>T		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551089	0.45383	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.54675	0.56;0.56;0.56	5.94	5.94	0.96194	.	.	.	.	.	T	0.49270	0.1547	L	0.38953	1.18	0.80722	D	1	B	0.29766	0.256	B	0.33295	0.161	T	0.34254	-0.9836	9	0.31617	T	0.26	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	2245	Q8TDW7-3	.	S	2245;2245;2095	ENSP00000298047:P2245S;ENSP00000387040:P2245S;ENSP00000432586:P2095S	ENSP00000298047:P2245S	P	+	1	0	FAT3	92172560	0.964000	0.33143	1.000000	0.80357	0.996000	0.88848	1.541000	0.36126	2.820000	0.97059	0.650000	0.86243	CCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	16	0	0	0	0.00198382	0	7	16				
MDN1	23195	broad.mit.edu	37	6	90384310	90384310	+	Splice_Site	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		MDN1_ENST00000428876.1_Splice_Site|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e79-2		MDN1, midasin homolog (yeast)							32.0	36.0	35.0					6																	90384310		2117	4128	6245	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384310T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12762-2A>G	6.37:g.90384310T>C						RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Splice_Site				Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	12877	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)						O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219520	0.79464	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90441031	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.963000	0.76055	2.203000	0.70933	0.533000	0.62120	.		0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Intron	13	32	0	0	0	0.00244969	0	13	32				
FLNA	2316	broad.mit.edu	37	X	153588903	153588903	+	Missense_Mutation	SNP	C	C	T	rs369668866		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:153588903C>T	ENST00000369850.3	-	22	3496	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000422373.1_Missense_Mutation_p.R1087H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1087					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATGGTGAAGCGGGCGGGGGA	0.692											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3259-3261)cGc>cAc		filamin A, alpha			HIS/ARG,HIS/ARG	1,3302		0,1,1367,567	23.0	26.0	25.0		3260,3260	4.2	1.0	X		25	0,6433		0,0,2327,1779	no	missense,missense	FLNA	NM_001456.3,NM_001110556.1	29,29	0,1,3694,2346	TT,TC,CC,C		0.0,0.0303,0.0103	benign,benign	1087/2640,1087/2648	153588903	1,9735	1935	4106	6041	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588903C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3260G>A	X.37:g.153588903C>T	ENSP00000358866:p.Arg1087His		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369850.3_Missense_Mutation_p.R1087H	p.R1087H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3508	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1087					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3260G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077126	0.36662	3.03E-4	0.0	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.06	4.18	0.49190	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.228496	0.35708	N	0.003024	T	0.77505	0.4140	L	0.28274	0.84	0.80722	D	1	B;B	0.30664	0.289;0.002	B;B	0.38921	0.285;0.005	T	0.76138	-0.3069	10	0.56958	D	0.05	.	6.5514	0.22436	0.0:0.4161:0.4598:0.1241	.	1087;1087	P21333-2;P21333	.;FLNA_HUMAN	H	1087;1060;1087;1087;1087	ENSP00000353467:R1087H;ENSP00000416926:R1087H;ENSP00000358866:R1087H;ENSP00000358863:R1087H	ENSP00000358863:R1087H	R	-	2	0	FLNA	153242097	0.023000	0.18921	1.000000	0.80357	0.875000	0.50365	0.424000	0.21330	2.104000	0.64026	0.525000	0.51046	CGC		0.692	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	14	0	0	0	0.000602214	0	5	14				
PCDHA8	56140	broad.mit.edu	37	5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	Cadherin 5. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1435-1437)gCg>gTg									43.0	48.0	46.0					5																	140222342		2192	4260	6452	SO:0001583	missense	56140							g.chr5:140222342C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1436C>T	5.37:g.140222342C>T	ENSP00000434655:p.Ala479Val					PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V	p.A479V	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1436C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551665	0.65311	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.59364	0.27;0.27	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.80539	0.4642	M	0.91090	3.175	0.45676	D	0.998595	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86420	0.1754	10	0.87932	D	0	.	15.9202	0.79556	0.0:1.0:0.0:0.0	.	479;479	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	479	ENSP00000434655:A479V;ENSP00000367363:A479V	ENSP00000367363:A479V	A	+	2	0	PCDHA8	140202526	1.000000	0.71417	0.072000	0.20136	0.038000	0.13279	5.798000	0.69095	1.790000	0.52503	0.306000	0.20318	GCG		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		32	18	0	0	0	0.000692331	0	32	18				
C8B	732	broad.mit.edu	37	1	57422503	57422503	+	Silent	SNP	A	A	G	rs545739274		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:57422503A>G	ENST00000371237.4	-	3	396	c.330T>C	c.(328-330)tgT>tgC	p.C110C	C8B_ENST00000535057.1_Silent_p.C48C|C8B_ENST00000543257.1_Silent_p.C58C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20354	0.0		0.0	False		,,,				2504	0.0					ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(172-174)tgT>tgC		complement component 8, beta polypeptide							291.0	269.0	277.0					1																	57422503		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422503A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.330T>C	1.37:g.57422503A>G						C8B_ENST00000371237.4_Silent_p.C110C|C8B_ENST00000535057.1_Silent_p.C48C	p.C58C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	740	-			110					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.174T>C	CCDS30730.1																																																																																				0.498	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			28	222	0	0	0	0.00127121	0	28	222				
PBRM1	55193	broad.mit.edu	37	3	52637658	52637658	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52637658A>G	ENST00000296302.7	-	17	2659	c.2658T>C	c.(2656-2658)ctT>ctC	p.L886L	PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000356770.4_Silent_p.L854L|PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2560-2562)ctT>ctC		polybromo 1							79.0	75.0	76.0					3																	52637658		2203	4299	6502	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637658A>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2658T>C	3.37:g.52637658A>G						PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000296302.7_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L	p.L854L			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2564	-			886			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.2562T>C																																																																																					0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		9	29	0	0	0	0.000274275	0	9	29				
NADK	65220	broad.mit.edu	37	1	1685535	1685535	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:1685535C>T	ENST00000341426.5	-	10	1277	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000378625.1_Silent_p.S497S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000344463.4_Silent_p.S497S	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	352					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGAAGGACAGCGAGTGGGGGC	0.662																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1489-1491)tcG>tcA		NAD kinase							54.0	66.0	62.0					1																	1685535		2203	4300	6503	SO:0001819	synonymous_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685535C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1056G>A	1.37:g.1685535C>T						NADK_ENST00000341426.5_Silent_p.S352S|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000378625.1_Silent_p.S497S	p.S497S			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	12	1712	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	352					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.1491G>A	CCDS30565.1																																																																																				0.662	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		9	77	0	0	0	0.000978159	0	9	77				
MAPKBP1	23005	broad.mit.edu	37	15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:42107957G>C	ENST00000456763.2	+	13	1667	c.1471G>C	c.(1471-1473)Gga>Cga	p.G491R	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G485R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1453-1455)Gga>Cga		mitogen-activated protein kinase binding protein 1							83.0	74.0	77.0					15																	42107957		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107957G>C	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1471G>C	15.37:g.42107957G>C	ENSP00000393099:p.Gly491Arg					MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G491R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R	p.G485R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1739	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	491					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1453G>C	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	35	5.483396	0.96307	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.72167	1.13;-0.42;0.39;-0.63;0.39	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048414	0.85682	D	0.000000	D	0.87569	0.6210	M	0.88310	2.945	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;0.988;1.0;0.999	D	0.88611	0.3156	10	0.66056	D	0.02	-5.1434	20.1081	0.97899	0.0:0.0:1.0:0.0	.	324;485;491;485	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	R	485;368;324;491;485	ENSP00000397570:G485R;ENSP00000221214:G368R;ENSP00000260357:G324R;ENSP00000393099:G491R;ENSP00000426154:G485R	ENSP00000221214:G368R	G	+	1	0	MAPKBP1	39895249	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.866000	0.99616	2.764000	0.94973	0.555000	0.69702	GGA		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		10	26	0	0	0	0.000673444	0	10	26				
FGFR4	2264	broad.mit.edu	37	5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GCATGGAGAAGAAACTGCATG	0.612										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(469-471)aaG>aaC		fibroblast growth factor receptor 4	Palifermin(DB00039)						88.0	72.0	77.0					5																	176517973		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517973G>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.471G>C	5.37:g.176517973G>C	ENSP00000292408:p.Lys157Asn	TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N|FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N	p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	716	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157			Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.471G>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223662	0.79576	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.72167	1.58;-0.63;1.58;1.58;1.58;1.58	4.74	3.87	0.44632	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	L	0.41906	1.305	0.51012	D	0.999906	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	T	0.76369	-0.2984	10	0.46703	T	0.11	.	12.4733	0.55799	0.0817:0.0:0.9183:0.0	.	157;157;157;157	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	N	157;157;157;157;157;157;269	ENSP00000292408:K157N;ENSP00000424905:K157N;ENSP00000377259:K157N;ENSP00000424960:K157N;ENSP00000292410:K157N;ENSP00000377254:K157N	ENSP00000292408:K157N	K	+	3	2	FGFR4	176450579	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.923000	0.56469	1.230000	0.43646	0.561000	0.74099	AAG		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	48	0	0	0	0.000602214	0	5	48				
CCDC50	152137	broad.mit.edu	37	3	191093190	191093190	+	Intron	SNP	G	G	A	rs534593003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:191093190G>A	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.R263Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488																																						ENST00000392456.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(787-789)cGa>cAa		coiled-coil domain containing 50							97.0	88.0	91.0					3																	191093190		2203	4300	6503	SO:0001627	intron_variant	152137					cytoplasm	protein binding	g.chr3:191093190G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4758G>A	3.37:g.191093190G>A						CCDC50_ENST00000392455.3_Intron	p.R263Q	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	6	1378	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		283					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.788G>A	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540445	0.27563	.	.	ENSG00000152492	ENST00000392456	T	0.32515	1.45	5.78	1.82	0.25136	.	0.446213	0.19208	N	0.120016	T	0.20007	0.0481	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.16424	-1.0403	9	0.33141	T	0.24	.	9.4196	0.38544	0.0769:0.4073:0.5158:0.0	.	263	Q8IVM0-2	.	Q	263	ENSP00000376250:R263Q	ENSP00000376250:R263Q	R	+	2	0	CCDC50	192575884	0.000000	0.05858	0.053000	0.19242	0.042000	0.13812	-0.355000	0.07671	0.350000	0.24002	0.655000	0.94253	CGA		0.488	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		13	33	0	0	0	0.00185496	0	13	33				
NEB	4703	broad.mit.edu	37	2	152423805	152423805	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152423805G>A	ENST00000172853.10	-	86	13077	c.12930C>T	c.(12928-12930)gcC>gcT	p.A4310A	NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000427231.2_Silent_p.A6011A|NEB_ENST00000409198.1_Silent_p.A4310A			P20929	NEBU_HUMAN	nebulin	4310					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18031-18033)gcC>gcT		nebulin							171.0	160.0	164.0					2																	152423805		1953	4153	6106	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152423805G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12930C>T	2.37:g.152423805G>A						NEB_ENST00000172853.10_Silent_p.A4310A|NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000409198.1_Silent_p.A4310A	p.A6011A	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	114	18235	-			6028					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18033C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		52	53	0	0	0	0.000781405	0	52	53				
COL3A1	1281	broad.mit.edu	37	2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 22; AA sequence). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAGGAGCTAACGGTCTCAG	0.433																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2956-2958)Aac>Tac		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						113.0	117.0	115.0					2																	189870100		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870100A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2956A>T	2.37:g.189870100A>T	ENSP00000304408:p.Asn986Tyr					COL3A1_ENST00000317840.5_Intron	p.N986Y	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3126	+			986	ANGLS -> PSGQN (in Ref. 20; AA sequence).		Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2956A>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835661	0.50951	.	.	ENSG00000168542	ENST00000304636	D	0.93811	-3.29	5.5	3.07	0.35406	.	0.538514	0.18159	N	0.149839	D	0.94358	0.8186	L	0.39898	1.24	0.09310	N	0.999996	D	0.69078	0.997	D	0.77557	0.99	D	0.88360	0.2987	10	0.72032	D	0.01	.	12.6558	0.56786	0.7579:0.2421:0.0:0.0	.	986	P02461	CO3A1_HUMAN	Y	986	ENSP00000304408:N986Y	ENSP00000304408:N986Y	N	+	1	0	COL3A1	189578345	0.001000	0.12720	0.200000	0.23457	0.898000	0.52572	0.137000	0.15995	0.360000	0.24265	0.528000	0.53228	AAC		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		52	62	0	0	0	0.000781405	0	52	62				
IL19	29949	broad.mit.edu	37	1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478																																						ENST00000340758.2																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(28-30)agA>agT		interleukin 19							181.0	146.0	158.0					1																	206972269		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:206972269A>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.30A>T	1.37:g.206972269A>T	ENSP00000343000:p.Arg10Ser						p.R10S	NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	55	+			0					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000340758.2	37	c.30A>T	CCDS1468.1	.	.	.	.	.	.	.	.	.	.	A	1.255	-0.617453	0.03663	.	.	ENSG00000142224	ENST00000340758	T	0.36699	1.24	4.05	2.94	0.34122	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	9	0.87932	D	0	.	5.42	0.16396	0.8679:0.0:0.1321:0.0	.	10	Q5VUT3	.	S	10	ENSP00000343000:R10S	ENSP00000343000:R10S	R	+	3	2	IL19	205038892	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.340000	0.19892	0.921000	0.36994	0.533000	0.62120	AGA		0.478	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		34	80	0	0	0	0.000814825	0	34	80				
PARP10	84875	broad.mit.edu	37	8	145060329	145060329	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(73-75)gaG>gaA		poly (ADP-ribose) polymerase family, member 10							48.0	55.0	53.0					8																	145060329		2202	4300	6502	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060329C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.75G>A	8.37:g.145060329C>T						PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.E37E	p.E25E	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	169	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		25					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.75G>A	CCDS34960.1																																																																																				0.657	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		12	63	0	0	0	0.000308642	0	12	63				
TENM3	55714	broad.mit.edu	37	4	183601503	183601503	+	Splice_Site	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:183601503G>A	ENST00000511685.1	+	9	1762		c.e9+1		TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTCAAGAGGTATGCAAGTT	0.443																																						ENST00000511685.1																			0											c.e9+1		teneurin transmembrane protein 3							126.0	112.0	117.0					4																	183601503		1852	4102	5954	SO:0001630	splice_region_variant	55714							g.chr4:183601503G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1639+1G>A	4.37:g.183601503G>A						TENM3_ENST00000406950.2_Splice_Site|TENM3_ENST00000502950.1_Splice_Site								9	1762	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Splice_Site	SNP	ENST00000511685.1	37		CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576606	0.65878	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODZ3	183838497	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.240000	0.95396	2.861000	0.98227	0.655000	0.94253	.		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		Intron	8	19	0	0	0	0.000274275	0	8	19				
AC015849.16	0	broad.mit.edu	37	17	34234112	34234112	+	lincRNA	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:34234112G>T	ENST00000587132.1	-	0	3915																											GGGGCCGCCTGCTGGGCTGGA	0.517																																						ENST00000587132.1																			0																																																			0							g.chr17:34234112G>T																													17.37:g.34234112G>T														0	3915	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.517	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			8	57	1	0	1.06961e-07	0.000157383	4.3343e-07	8	57				
CTNNB1	1499	broad.mit.edu	37	3	41267196	41267196	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H|CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAACTCTCCACAACCTTTTAT	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(778-780)caC>caT		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						94.0	100.0	98.0					3																	41267196		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41267196C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.780C>T	3.37:g.41267196C>T						CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	p.H260H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	6	1060	+			260					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.780C>T	CCDS2694.1																																																																																				0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		54	37	0	0	0	0.000781405	0	54	37				
SLC19A3	80704	broad.mit.edu	37	2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1072-1074)gGt>gAt		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82.0	93.0	89.0					2																	228560704		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560704C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1073G>A	2.37:g.228560704C>T	ENSP00000258403:p.Gly358Asp					SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D	p.G358D	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1144	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	358						Missense_Mutation	SNP	ENST00000258403.3	37	c.1073G>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461724	0.26248	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.80994	-1.44;-1.44	5.03	2.06	0.26882	Major facilitator superfamily domain, general substrate transporter (1);	0.327983	0.34484	N	0.003925	D	0.89255	0.6663	M	0.92604	3.325	0.24671	N	0.993419	D;P	0.52996	0.957;0.911	P;P	0.59171	0.853;0.853	T	0.82386	-0.0483	10	0.46703	T	0.11	-11.6664	12.2542	0.54615	0.1221:0.5234:0.3545:0.0	.	354;358	F5H2M8;Q9BZV2	.;S19A3_HUMAN	D	358;354	ENSP00000258403:G358D;ENSP00000445519:G354D	ENSP00000258403:G358D	G	-	2	0	SLC19A3	228268948	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.357000	0.07651	0.683000	0.31428	-0.150000	0.13652	GGT		0.468	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			29	86	0	0	0	0.00127121	0	29	86				
TIAM2	26230	broad.mit.edu	37	6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1372-1374)Att>Gtt		T-cell lymphoma invasion and metastasis 2							103.0	111.0	108.0					6																	155458488		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458488A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1372A>G	6.37:g.155458488A>G	ENSP00000437188:p.Ile458Val					TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR	p.I458V			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2645	+		Ovarian(120;0.196)	458					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1372A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746020	0.30955	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04862	3.67;3.54;3.63;3.67;3.67;3.63	6.08	4.91	0.64330	.	0.051889	0.85682	N	0.000000	T	0.05318	0.0141	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.44081	-0.9351	10	0.10902	T	0.67	.	9.2029	0.37270	0.8616:0.0:0.1384:0.0	.	458	Q8IVF5	TIAM2_HUMAN	V	458;704;458;458;458;458;458	ENSP00000437188:I458V;ENSP00000434901:I458V;ENSP00000407746:I458V;ENSP00000327315:I458V;ENSP00000353528:I458V;ENSP00000433348:I458V	ENSP00000327315:I458V	I	+	1	0	TIAM2	155500180	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	4.872000	0.63050	1.117000	0.41842	0.533000	0.62120	ATT		0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		38	76	0	0	0	0.000953801	0	38	76				
MME	4311	broad.mit.edu	37	3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000360490.2_Missense_Mutation_p.P162A|MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAAACTGTTACCAGACATATA	0.363																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(484-486)Cca>Gca		membrane metallo-endopeptidase	Candoxatril(DB00616)						63.0	65.0	64.0					3																	154834497		2199	4299	6498	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834497C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.484C>G	3.37:g.154834497C>G	ENSP00000418525:p.Pro162Ala					MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000360490.2_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A	p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		6	604	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	162					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.484C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099331	0.37048	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.95	4.14	0.48551	Peptidase M13 (1);	0.148203	0.64402	D	0.000009	T	0.61502	0.2352	N	0.16743	0.435	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.42050	-0.9474	10	0.14656	T	0.56	-5.5888	7.0425	0.25029	0.2225:0.6067:0.108:0.0628	.	162	P08473	NEP_HUMAN	A	162	ENSP00000420389:P162A;ENSP00000418525:P162A;ENSP00000420101:P162A;ENSP00000419653:P162A;ENSP00000417079:P162A;ENSP00000353679:P162A	ENSP00000353679:P162A	P	+	1	0	MME	156317191	1.000000	0.71417	0.034000	0.17996	0.615000	0.37417	2.089000	0.41672	1.518000	0.48934	0.655000	0.94253	CCA		0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		7	45	0	0	0	0.00198382	0	7	45				
PCDHGB1	56104	broad.mit.edu	37	5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	716					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTCCAGCCTCGACACT	0.582																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2146-2148)aGc>aTc									108.0	114.0	112.0					5																	140731974		2048	4186	6234	SO:0001583	missense	56104							g.chr5:140731974G>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2147G>T	5.37:g.140731974G>T	ENSP00000429273:p.Ser716Ile					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S716I	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2147	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2147G>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.754838	0.49362	.	.	ENSG00000254221	ENST00000523390	T	0.16196	2.36	5.47	3.28	0.37604	.	.	.	.	.	T	0.32285	0.0824	M	0.78637	2.42	0.09310	N	1	D;P	0.55800	0.973;0.836	P;P	0.55999	0.789;0.62	T	0.09465	-1.0673	9	0.52906	T	0.07	.	6.5964	0.22677	0.1321:0.3337:0.5342:0.0	.	716;716	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	I	716	ENSP00000429273:S716I	ENSP00000429273:S716I	S	+	2	0	PCDHGB1	140712158	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.132000	0.10467	1.416000	0.47057	0.655000	0.94253	AGC		0.582	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		15	147	1	0	1.52009e-12	0.000308642	6.49903e-12	15	147				
MAGEB18	286514	broad.mit.edu	37	X	26157205	26157205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(103-105)Gga>Aga		melanoma antigen family B, 18							52.0	45.0	47.0					X																	26157205		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157205G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.103G>A	X.37:g.26157205G>A	ENSP00000314543:p.Gly35Arg						p.G35R	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	290	+			35						Missense_Mutation	SNP	ENST00000325250.1	37	c.103G>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776167	0.16051	.	.	ENSG00000176774	ENST00000325250	T	0.04194	3.68	3.93	-0.507	0.11985	Melanoma associated antigen, MAGE, N-terminal (1);	2.322340	0.02115	N	0.055125	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	B	0.26809	0.16	B	0.20184	0.028	T	0.41124	-0.9526	10	0.56958	D	0.05	.	7.0248	0.24934	0.5444:0.0:0.4556:0.0	.	35	Q96M61	MAGBI_HUMAN	R	35	ENSP00000314543:G35R	ENSP00000314543:G35R	G	+	1	0	MAGEB18	26067126	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.607000	0.24209	-0.260000	0.09418	-0.176000	0.13171	GGA		0.587	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		5	15	0	0	0	0.000602214	0	5	15				
NOL4	8715	broad.mit.edu	37	18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S|NOL4_ENST00000269185.4_Missense_Mutation_p.N391S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1819-1821)aAt>aGt		nucleolar protein 4							116.0	102.0	107.0					18																	31432903		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432903T>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1820A>G	18.37:g.31432903T>C	ENSP00000261592:p.Asn607Ser					NOL4_ENST00000269185.4_Missense_Mutation_p.N391S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S	p.N607S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			11	2117	-			607					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1820A>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	0.984	-0.696232	0.03279	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.31664	0.95	0.46749	D	0.999187	P;P;P;P;P;B	0.50943	0.655;0.94;0.907;0.655;0.917;0.041	B;P;P;B;D;B	0.63488	0.269;0.465;0.546;0.269;0.915;0.078	T	0.54603	-0.8269	9	0.02654	T	1	-21.7792	16.4338	0.83864	0.0:0.0:0.0:1.0	.	322;533;607;322;505;388	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	S	607;391;322;388;533	.	ENSP00000261592:N607S	N	-	2	0	NOL4	29686901	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.976000	0.56867	2.270000	0.75569	0.533000	0.62120	AAT		0.468	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		25	49	0	0	0	0.000878237	0	25	49				
DNMT3A	1788	broad.mit.edu	37	2	25468197	25468197	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000321117.5_Silent_p.I493I|DNMT3A_ENST00000402667.1_Silent_p.I270I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	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)					AGGAGATGCAGATGTCTGGAA	0.602			"""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.(1477-1479)atC>atT		DNA (cytosine-5-)-methyltransferase 3 alpha							79.0	79.0	79.0					2																	25468197		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.chr2:25468197G>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.1479C>T	2.37:g.25468197G>A						DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000321117.5_Silent_p.I493I	p.I493I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			13	1816	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		493			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1479C>T	CCDS33157.1																																																																																				0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		34	36	0	0	0	0.00283554	0	34	36				
TJP1	7082	broad.mit.edu	37	15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1252-1254)Ctt>Ttt		tight junction protein 1							57.0	57.0	57.0					15																	30033539		1819	4079	5898	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30033539G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1252C>T	15.37:g.30033539G>A	ENSP00000281537:p.Leu418Phe					TJP1_ENST00000545208.2_Missense_Mutation_p.L418F|TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F	p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	10	1726	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	418					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1252C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311747	0.40895	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.27	5.27	0.74061	PDZ/DHR/GLGF (1);	114.053000	0.00166	N	0.000002	T	0.49643	0.1569	L	0.44542	1.39	0.80722	D	1	B;B;B;P	0.35155	0.002;0.005;0.068;0.487	B;B;B;B	0.34779	0.009;0.021;0.069;0.189	T	0.18871	-1.0323	9	.	.	.	.	16.061	0.80838	0.0:0.0:1.0:0.0	.	411;418;418;422	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	418;422;418;418;418	ENSP00000281537:L418F;ENSP00000382890:L422F;ENSP00000441202:L418F;ENSP00000348416:L418F	.	L	-	1	0	TJP1	27820831	1.000000	0.71417	0.996000	0.52242	0.479000	0.33129	6.789000	0.75110	2.458000	0.83093	0.555000	0.69702	CTT		0.338	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		19	23	0	0	0	0.000958276	0	19	23				
PSORS1C1	170679	broad.mit.edu	37	6	31084822	31084822	+	Intron	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:31084822G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S190S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GTCCAGGCTGGGAAGGGTTTA	0.557																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(568-570)tcC>tcA		corneodesmosin							85.0	92.0	89.0					6																	31084822		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084822G>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2154G>T	6.37:g.31084822G>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S190S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	596	-			190			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.570C>A	CCDS34390.1																																																																																				0.557	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		38	36	1	0	3.62531e-18	0.000814825	1.61856e-17	38	36				
CCDC40	55036	broad.mit.edu	37	17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1873-1875)aGg>aTg		coiled-coil domain containing 40							39.0	43.0	41.0					17																	78055742		2146	4256	6402	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055742G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1874G>T	17.37:g.78055742G>T	ENSP00000380679:p.Arg625Met					CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	1901	+	all_neural(118;0.167)		625					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1874G>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224128	0.58668	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51817	0.69;0.73	5.07	-1.4	0.08968	.	.	.	.	.	T	0.57140	0.2033	M	0.63428	1.95	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.862;0.891	T	0.51725	-0.8669	9	0.46703	T	0.11	-21.2565	9.6452	0.39863	0.7851:0.0:0.2149:0.0	.	625;408	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	625	ENSP00000364011:R625M;ENSP00000380679:R625M	ENSP00000364011:R625M	R	+	2	0	CCDC40	75670337	0.009000	0.17119	0.000000	0.03702	0.142000	0.21351	1.492000	0.35594	-0.102000	0.12197	-0.302000	0.09304	AGG		0.577	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		9	36	1	0	3.09899e-07	0.000274275	1.24082e-06	9	36				
ZNF585B	92285	broad.mit.edu	37	19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1153-1155)Agt>Tgt		zinc finger protein 585B							108.0	101.0	103.0					19																	37677286		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677286T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1153A>T	19.37:g.37677286T>A	ENSP00000433773:p.Ser385Cys					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	p.S385C	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1404	-			385					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1153A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.899	1.206353	0.22205	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19669	2.13;3.14	2.89	0.66	0.17868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194277	0.26268	N	0.025344	T	0.20536	0.0494	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.46020	0.871;0.871	B;P	0.47626	0.327;0.552	T	0.12451	-1.0547	10	0.66056	D	0.02	.	2.2284	0.03990	0.23:0.2983:0.0:0.4716	.	330;385	E9PQH3;Q52M93	.;Z585B_HUMAN	C	330;385	ENSP00000436774:S330C;ENSP00000433773:S385C	ENSP00000436774:S330C	S	-	1	0	ZNF585B	42369126	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	-3.204000	0.00559	-0.024000	0.13941	0.374000	0.22700	AGT		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		10	56	0	0	0	0.000442599	0	10	56				
ARNT	405	broad.mit.edu	37	1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		1	Substitution - coding silent(1)	p.R185R(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(553-555)agG>agT		aryl hydrocarbon receptor nuclear translocator							97.0	83.0	88.0					1																	150808901		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150808901C>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.555G>T	1.37:g.150808901C>A	ENSP00000351407:p.Arg185Ser					ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S	p.R185S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	755	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		185			PAS 1.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.555G>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.52	-1.71	0.08133	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	M	0.74389	2.26	0.80722	D	1	D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;0.863;0.863;0.996;1.0	D;D;D;P;P;D;D	0.91635	0.999;0.999;0.999;0.8;0.8;0.969;0.999	T	0.18209	-1.0344	10	0.56958	D	0.05	.	2.0473	0.03563	0.1045:0.3483:0.1984:0.3488	.	169;185;170;185;176;170;185	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	S	185;185;185;176;169;170	ENSP00000351407:R185S;ENSP00000346372:R185S;ENSP00000423851:R176S;ENSP00000427571:R170S	ENSP00000346372:R185S	R	-	3	2	ARNT	149075525	0.012000	0.17670	0.998000	0.56505	0.981000	0.71138	-1.036000	0.03560	0.027000	0.15297	0.655000	0.94253	AGG		0.453	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			11	40	1	0	3.86212e-05	0.000673444	0.000147609	11	40				
HSP90AB1	3326	broad.mit.edu	37	6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(322-324)tCt>tTt		heat shock protein 90kDa alpha (cytosolic), class B member 1							81.0	80.0	80.0					6																	44217289		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217289C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.323C>T	6.37:g.44217289C>T	ENSP00000360609:p.Ser108Phe					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F	p.S108F			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	537	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		108					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.323C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721356	0.89205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	D;D;D	0.82526	-1.62;-1.62;-1.62	4.25	4.25	0.50352	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	U	0.000002	D	0.96278	0.8786	H	0.99993	5.37	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.903;1.0	D	0.98834	1.0752	10	0.87932	D	0	-4.4865	17.0507	0.86518	0.0:1.0:0.0:0.0	.	108;108	B4DGL0;P08238	.;HS90B_HUMAN	F	108	ENSP00000360709:S108F;ENSP00000325875:S108F;ENSP00000360609:S108F	ENSP00000325875:S108F	S	+	2	0	HSP90AB1	44325267	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.818000	0.86416	2.112000	0.64535	0.555000	0.69702	TCT		0.418	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		9	59	0	0	0	0.000442599	0	9	59				
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138423G>T	ENST00000299308.3	+	9	2412	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2404-2406)Gat>Tat		transmembrane protein 132B							81.0	81.0	81.0					12																	126138423		2066	4209	6275	SO:0001583	missense	114795					integral to membrane		g.chr12:126138423G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2404G>T	12.37:g.126138423G>T	ENSP00000299308:p.Asp802Tyr					TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	p.D802Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2412	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		802					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2404G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915096	0.33815	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.19105	2.17;2.17	5.54	5.54	0.83059	.	2.820060	0.00980	N	0.003370	T	0.43678	0.1258	L	0.28192	0.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.19549	-1.0302	10	0.44086	T	0.13	.	19.4949	0.95069	0.0:0.0:1.0:0.0	.	802	Q14DG7	T132B_HUMAN	Y	802;314	ENSP00000299308:D802Y;ENSP00000440436:D314Y	ENSP00000299308:D802Y	D	+	1	0	TMEM132B	124704376	1.000000	0.71417	0.123000	0.21794	0.083000	0.17756	4.511000	0.60462	2.601000	0.87937	0.655000	0.94253	GAT		0.473	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		6	57	1	0	3.59834e-05	0.00116845	0.000139108	6	57				
ERICH3	127254	broad.mit.edu	37	1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		879	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCAAGGCTTGCTTTTCAGG	0.527																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2635-2637)cAa>cGa		chromosome 1 open reading frame 173							227.0	226.0	226.0					1																	75038758		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038758T>C																												ENST00000326665.5:c.2636A>G	1.37:g.75038758T>C	ENSP00000322609:p.Gln879Arg					C1orf173_ENST00000433746.2_5'UTR	p.Q879R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2854	-			879			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2636A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	4.397	0.073358	0.08485	.	.	ENSG00000178965	ENST00000326665	T	0.13657	2.57	5.37	-6.16	0.02098	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.29988	0.264	B	0.24701	0.055	T	0.44050	-0.9353	9	0.18710	T	0.47	-0.8712	1.4491	0.02371	0.2047:0.1253:0.3168:0.3532	.	879	Q5RHP9	CA173_HUMAN	R	879	ENSP00000322609:Q879R	ENSP00000322609:Q879R	Q	-	2	0	C1orf173	74811346	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.015000	0.13355	-1.087000	0.03081	-0.490000	0.04691	CAA		0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			72	156	0	0	0	0.000781405	0	72	156				
PRR12	57479	broad.mit.edu	37	19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A	rs542085119	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCGAGGACGGGGCAGCAGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		13575	0.0		0.0	False		,,,				2504	0.002					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1996-1998)Ggg>Agg		proline rich 12							13.0	16.0	15.0					19																	50099588		1874	4027	5901	SO:0001583	missense	57479						DNA binding	g.chr19:50099588G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1996G>A	19.37:g.50099588G>A	ENSP00000394510:p.Gly666Arg						p.G666R	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2008	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	412			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1996G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729106	0.15507	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.61	2.57	0.30868	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.19575	N	0.999963	B	0.23490	0.086	B	0.13407	0.009	T	0.15464	-1.0436	7	0.39692	T	0.17	.	6.958	0.24582	0.22:0.0:0.78:0.0	.	666	Q9ULL5-3	.	R	666	.	ENSP00000394510:G666R	G	+	1	0	PRR12	54791400	0.625000	0.27111	0.835000	0.33067	0.898000	0.52572	2.128000	0.42045	0.884000	0.36064	0.297000	0.19635	GGG		0.672	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	11	0	0	0	0.00198382	0	4	11				
PLEKHS1	79949	broad.mit.edu	37	10	115534710	115534710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:115534710C>A	ENST00000369310.3	+	9	1449	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.S46Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	296																	TGGTGTCTTTCCCCTGCCGAT	0.488																																						ENST00000354462.3																			0											c.(136-138)tCc>tAc		pleckstrin homology domain containing, family S member 1							94.0	81.0	86.0					10																	115534710		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115534710C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.887C>A	10.37:g.115534710C>A	ENSP00000358316:p.Ser296Tyr					PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S296Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y	p.S46Y							3	295	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.137C>A	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.973|5.973	0.363548|0.363548	0.11296|0.11296	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36	5.49|5.49	2.53|2.53	0.30540|0.30540	.|.	.|0.568511	.|0.18319	.|N	.|0.144845	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.46457	.|0.878;0.631;0.85;0.795	.|P;B;P;P	.|0.49999	.|0.628;0.165;0.525;0.51	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.62326	.|D	.|0.03	2.0513|2.0513	6.0858|6.0858	0.19966|0.19966	0.0:0.6755:0.1534:0.1711|0.0:0.6755:0.1534:0.1711	.|.	.|296;296;296;302	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.|CJ081_HUMAN;.;.;.	L|Y	12|302;214;296;116;46	.|ENSP00000354332:S302Y;ENSP00000358318:S214Y;ENSP00000358316:S296Y;ENSP00000358315:S116Y;ENSP00000346451:S46Y	.|ENSP00000346451:S46Y	F|S	+|+	3|2	2|0	C10orf81|C10orf81	115524700|115524700	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	0.594000|0.594000	0.24014|0.24014	0.250000|0.250000	0.21479|0.21479	-0.216000|-0.216000	0.12614|0.12614	TTC|TCC		0.488	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		12	28	1	0	0.00010058	0.00136819	0.000382963	12	28				
COL6A6	131873	broad.mit.edu	37	3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(6175-6177)Gct>Tct		collagen, type VI, alpha 6							90.0	88.0	89.0					3																	130380825		1898	4131	6029	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130380825G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6175G>T	3.37:g.130380825G>T	ENSP00000351310:p.Ala2059Ser					COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			34	6206	+			2059			Nonhelical region.|VWFA 9.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6175G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314105	0.10789	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82433	-1.61;-1.61	6.04	4.23	0.50019	von Willebrand factor, type A (3);	.	.	.	.	T	0.73690	0.3619	L	0.31294	0.92	0.09310	N	1	B;B	0.25312	0.069;0.123	B;B	0.33890	0.049;0.172	T	0.60021	-0.7344	9	0.22109	T	0.4	.	6.4079	0.21674	0.0677:0.241:0.5661:0.1252	.	2059;2059	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	S	2059	ENSP00000351310:A2059S;ENSP00000399236:A2059S	ENSP00000351310:A2059S	A	+	1	0	COL6A6	131863515	0.000000	0.05858	0.109000	0.21407	0.911000	0.54048	-0.339000	0.07832	0.858000	0.35431	0.561000	0.74099	GCT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	42	1	0	3.27435e-08	0.00244969	1.33758e-07	14	42				
CD1D	912	broad.mit.edu	37	1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(715-717)Atg>Ttg		CD1d molecule							120.0	111.0	114.0					1																	158152775		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152775A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.715A>T	1.37:g.158152775A>T	ENSP00000357153:p.Met239Leu						p.M239L	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1214	+	all_hematologic(112;0.0378)		239			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.715A>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969021	0.53614	.	.	ENSG00000158473	ENST00000368171	T	0.11169	2.8	5.18	4.02	0.46733	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.100480	0.44902	N	0.000412	T	0.05914	0.0154	L	0.45051	1.395	0.30180	N	0.800538	P	0.48764	0.915	P	0.47044	0.535	T	0.09100	-1.0690	10	0.87932	D	0	-31.2078	9.1153	0.36753	0.815:0.185:0.0:0.0	.	239	P15813	CD1D_HUMAN	L	239	ENSP00000357153:M239L	ENSP00000357153:M239L	M	+	1	0	CD1D	156419399	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.327000	0.19663	0.869000	0.35703	0.533000	0.62120	ATG		0.627	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		10	133	0	0	0	0.000673444	0	10	133				
GPR119	139760	broad.mit.edu	37	X	129518927	129518927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(493-495)ttC>ttA		G protein-coupled receptor 119							112.0	92.0	99.0					X																	129518927		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518927G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.495C>A	X.37:g.129518927G>T	ENSP00000276218:p.Phe165Leu						p.F165L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	584	-			165					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.495C>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646431	0.14451	.	.	ENSG00000147262	ENST00000276218	T	0.36520	1.25	4.74	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.354834	0.30028	N	0.010593	T	0.27419	0.0673	L	0.43598	1.365	0.09310	N	1	P	0.44776	0.843	B	0.40741	0.339	T	0.30563	-0.9974	10	0.87932	D	0	-14.2445	11.2512	0.49026	0.6222:0.0:0.3778:0.0	.	165	Q8TDV5	GP119_HUMAN	L	165	ENSP00000276218:F165L	ENSP00000276218:F165L	F	-	3	2	GPR119	129346608	0.954000	0.32549	0.169000	0.22859	0.276000	0.26787	1.189000	0.32114	-0.503000	0.06586	-0.332000	0.08345	TTC		0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		21	13	1	0	2.54575e-18	0.00152264	1.14163e-17	21	13				
RASSF4	83937	broad.mit.edu	37	10	45484754	45484754	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:45484754G>A	ENST00000340258.5	+	7	677	c.564G>A	c.(562-564)gtG>gtA	p.V188V	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.V197V	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	802	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562																																						ENST00000334940.6																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(589-591)gtG>gtA		Ras association (RalGDS/AF-6) domain family member 4							110.0	90.0	97.0					10																	45484754		2203	4300	6503	SO:0001819	synonymous_variant	83937				cell cycle|signal transduction		protein binding	g.chr10:45484754G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.564G>A	10.37:g.45484754G>A						RASSF4_ENST00000340258.4_Silent_p.V188V|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR	p.V197V			Q9H2L5	RASF4_HUMAN			7	725	+			188			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	c.591G>A	CCDS7208.1																																																																																				0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		11	31	0	0	0	0.00136819	0	11	31				
KIR3DL1	3811	broad.mit.edu	37	19	55294944	55294944	+	Intron	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:55294944C>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A275V|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(823-825)gCg>gTg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							131.0	132.0	132.0					19																	55294944		2170	4191	6361	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294944C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34045C>T	19.37:g.55294944C>T						KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.A275V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	864	+			275					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.824C>T		.	.	.	.	.	.	.	.	.	.	C	7.873	0.728611	0.15507	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	T;T;T	0.00502	7.11;7.07;6.95	0.929	-0.622	0.11560	.	.	.	.	.	T	0.00496	0.0016	M	0.67953	2.075	0.09310	N	1	B;B;B	0.26547	0.152;0.008;0.071	B;B;B	0.20184	0.028;0.013;0.024	T	0.39742	-0.9599	9	0.56958	D	0.05	.	4.3733	0.11258	0.0:0.5684:0.4315:0.0	.	301;275;275	Q6IST4;Q6H2H3;P43627	.;.;KI2L2_HUMAN	V	275;275;301	ENSP00000415758:A275V;ENSP00000336769:A275V;ENSP00000291633:A301V	ENSP00000291633:A301V	A	+	2	0	KIR2DL1;KIR2DL3	59986756	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	1.250000	0.32850	-0.121000	0.11787	0.184000	0.17185	GCG		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		11	55	0	0	0	0.00152264	0	11	55				
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:70139220G>C	ENST00000602465.1	-	12	1266	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000388768.2_Missense_Mutation_p.T424S			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1270-1272)aCc>aGc		RUN and FYVE domain containing 2							117.0	118.0	118.0					10																	70139220		1826	4078	5904	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70139220G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1166C>G	10.37:g.70139220G>C	ENSP00000473462:p.Thr389Ser					RUFY2_ENST00000602465.1_Missense_Mutation_p.T389S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S	p.T424S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			12	1597	-			438					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1271C>G		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205384	0.39003	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.53640	0.61;1.89;1.46	4.84	2.9	0.33743	.	0.106288	0.64402	D	0.000005	T	0.41949	0.1181	L	0.56280	1.765	0.48395	D	0.999643	B;B;B;B	0.28178	0.009;0.202;0.073;0.143	B;B;B;B	0.32289	0.007;0.084;0.06;0.143	T	0.17684	-1.0361	10	0.11485	T	0.65	.	13.7045	0.62629	0.0:0.0:0.7038:0.2962	.	331;389;355;424	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	S	424;355;331	ENSP00000373420:T424S;ENSP00000382151:T355S;ENSP00000404986:T331S	ENSP00000373420:T424S	T	-	2	0	RUFY2	69809226	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.722000	0.61958	0.681000	0.31386	0.491000	0.48974	ACC		0.338	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	64	0	0	0	0.000442599	0	8	64				
SCPEP1	59342	broad.mit.edu	37	17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498																																						ENST00000262288.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(736-738)tAc>tGc		serine carboxypeptidase 1							91.0	92.0	92.0					17																	55072947		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072947A>G	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.737A>G	17.37:g.55072947A>G	ENSP00000262288:p.Tyr246Cys						p.Y246C	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			8	792	+	Breast(9;2.86e-08)		246					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.737A>G	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234140	0.39498	.	.	ENSG00000121064	ENST00000262288	D	0.85702	-2.02	5.72	4.62	0.57501	.	0.052425	0.85682	D	0.000000	D	0.91449	0.7301	M	0.87827	2.91	0.40118	D	0.976568	D	0.67145	0.996	D	0.65684	0.937	D	0.90250	0.4293	10	0.30854	T	0.27	-2.9879	10.6384	0.45579	0.7443:0.0:0.0:0.2557	.	246	Q9HB40	RISC_HUMAN	C	246	ENSP00000262288:Y246C	ENSP00000262288:Y246C	Y	+	2	0	SCPEP1	52427946	0.988000	0.35896	0.180000	0.23079	0.228000	0.25075	2.681000	0.46926	0.965000	0.38133	0.455000	0.32223	TAC		0.498	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		6	118	0	0	0	0.00116845	0	6	118				
ZNF550	162972	broad.mit.edu	37	19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:58058918C>G	ENST00000457177.1	-	4	874	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF550_ENST00000325134.5_Missense_Mutation_p.E200Q|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					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)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATTGCATTCATAGGGTTTC	0.488																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(598-600)Gaa>Caa		zinc finger protein 550							161.0	122.0	135.0					19																	58058918		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058918C>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.694G>C	19.37:g.58058918C>G	ENSP00000469679:p.Glu232Gln					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.E232Q|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF549_ENST00000602149.1_Intron	p.E200Q			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	754	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	232					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.598G>C		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093361	0.36952	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.20200	2.09;2.09	3.61	-1.09	0.09904	.	.	.	.	.	T	0.10423	0.0255	N	0.11106	0.095	0.09310	N	1	B	0.26195	0.144	B	0.32533	0.147	T	0.35574	-0.9783	9	0.66056	D	0.02	-6.1328	2.5973	0.04857	0.3592:0.3118:0.0:0.3291	.	200	Q7Z398-2	.	Q	232;200;191	ENSP00000446224:E200Q;ENSP00000422344:E191Q	ENSP00000446224:E200Q	E	-	1	0	AC003682.1	62750730	0.000000	0.05858	0.015000	0.15790	0.716000	0.41182	-2.751000	0.00792	0.009000	0.14813	0.655000	0.94253	GAA		0.488	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		16	38	0	0	0	0.000308642	0	16	38				
COL11A1	1301	broad.mit.edu	37	1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:103400075C>T	ENST00000370096.3	-	46	3842	c.3530G>A	c.(3529-3531)gGg>gAg	p.G1177E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1189E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3565-3567)gGg>gAg		collagen, type XI, alpha 1							120.0	108.0	112.0					1																	103400075		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400075C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3530G>A	1.37:g.103400075C>T	ENSP00000359114:p.Gly1177Glu					COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1177E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E	p.G1189E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3883	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1177			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3566G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278583	0.80692	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.97125	0.9814	10	0.87932	D	0	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	1061;1138;1189;1177;397	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1177;1189;1138;397;1061	ENSP00000359114:G1177E;ENSP00000351163:G1189E;ENSP00000302551:G1138E;ENSP00000426533:G1061E	ENSP00000302551:G1138E	G	-	2	0	COL11A1	103172663	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.752000	0.85141	2.589000	0.87451	0.655000	0.94253	GGG		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	49	0	0	0	0.00074312	0	16	49				
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					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)	p.T8414M(2)		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)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.T8414M(2)	large_intestine(2)	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.(25240-25242)aCg>aTg		spectrin repeat containing, nuclear envelope 1							173.0	149.0	157.0					6																	152462343		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.chr6:152462343G>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.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M	p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25842	-		Ovarian(120;0.0955)	8414					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.25241C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	60	0	0	0	0.00058488	0	28	60				
HIVEP3	59269	broad.mit.edu	37	1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:42050284G>A	ENST00000372583.1	-	4	1070	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AACTGATGAGGGGCCCGGGAA	0.622																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(184-186)cCc>cTc		human immunodeficiency virus type I enhancer binding protein 3							70.0	87.0	81.0					1																	42050284		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050284G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.185C>T	1.37:g.42050284G>A	ENSP00000361664:p.Pro62Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L	p.P62L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1199	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	62					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.185C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760478	0.31137	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06371	3.32;3.31;3.31;3.32	4.85	3.93	0.45458	.	0.261628	0.27591	N	0.018685	T	0.06508	0.0167	N	0.24115	0.695	0.42567	D	0.993166	P;B	0.44429	0.835;0.418	B;B	0.43728	0.429;0.136	T	0.34576	-0.9823	10	0.72032	D	0.01	-21.8676	11.5995	0.50995	0.0865:0.0:0.9135:0.0	.	62;62	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	62	ENSP00000361665:P62L;ENSP00000361664:P62L;ENSP00000247584:P62L;ENSP00000410828:P62L	ENSP00000247584:P62L	P	-	2	0	HIVEP3	41822871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.040000	0.57333	1.262000	0.44165	0.563000	0.77884	CCC		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		46	76	0	0	0	0.0025221	0	46	76				
SIGLEC9	27180	broad.mit.edu	37	19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607																																						ENST00000250360.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(1282-1284)Gaa>Taa		sialic acid binding Ig-like lectin 9							68.0	68.0	68.0					19																	51633226		2203	4300	6503	SO:0001587	stop_gained	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633226G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1282G>T	19.37:g.51633226G>T	ENSP00000250360:p.Glu428*					SIGLEC9_ENST00000440804.3_Intron	p.E428*	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1349	+		all_neural(266;0.0529)	428					Q6GTU4|Q9BYI9	Nonsense_Mutation	SNP	ENST00000250360.3	37	c.1282G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.509454	0.44660	.	.	ENSG00000129450	ENST00000250360	.	.	.	1.96	-0.634	0.11516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.3545	0.07164	0.1787:0.2705:0.5507:0.0	.	.	.	.	X	428	.	ENSP00000250360:E428X	E	+	1	0	SIGLEC9	56325038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.079000	0.14782	-0.050000	0.13356	0.514000	0.50259	GAA		0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	77	1	0	0.000274275	0.000274275	0.00103263	9	77				
SV2A	9900	broad.mit.edu	37	1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(2167-2169)Ctt>Ttt		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						47.0	41.0	43.0					1																	149876628		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149876628G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2167C>T	1.37:g.149876628G>A	ENSP00000358142:p.Leu723Phe						p.L723F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	2657	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		723					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2167C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338287	0.60963	.	.	ENSG00000159164	ENST00000369146	T	0.60672	0.17	4.35	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.313337	0.29145	N	0.013003	T	0.61173	0.2326	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.70016	0.874;0.967	T	0.65146	-0.6239	10	0.59425	D	0.04	-11.5295	8.0813	0.30746	0.1082:0.0:0.8918:0.0	.	175;723	B4E000;Q7L0J3	.;SV2A_HUMAN	F	723	ENSP00000358142:L723F	ENSP00000358142:L723F	L	-	1	0	SV2A	148143252	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.409000	0.66374	2.244000	0.73946	0.549000	0.68633	CTT		0.602	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	27	0	0	0	0.00198382	0	7	27				
ATP10A	57194	broad.mit.edu	37	15	25959362	25959362	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1801-1803)tcC>tcA		ATPase, class V, type 10A							36.0	41.0	40.0					15																	25959362		2197	4290	6487	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959362G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1803C>A	15.37:g.25959362G>T							p.S601S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1914	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	601					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1803C>A	CCDS32178.1																																																																																				0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	31	1	0	6.31663e-08	0.000308642	2.56995e-07	16	31				
PTPN21	11099	broad.mit.edu	37	14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2527-2529)Cga>Tga		protein tyrosine phosphatase, non-receptor type 21							141.0	137.0	138.0					14																	88940131		2203	4300	6503	SO:0001587	stop_gained	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940131G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2527C>T	14.37:g.88940131G>A	ENSP00000452414:p.Arg843*					PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2811	-			843						Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2527C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	43	10.436043	0.99405	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.43	5.43	0.79202	.	0.131690	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0467	0.64708	0.0:0.0:0.8119:0.1881	.	.	.	.	X	843	.	ENSP00000330276:R843X	R	-	1	2	PTPN21	88009884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.106000	0.50322	2.547000	0.85894	0.655000	0.94253	CGA		0.398	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	41	0	0	0	0.000602214	0	5	41				
KIAA1755	85449	broad.mit.edu	37	20	36869729	36869729	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(802-804)agC>agT		KIAA1755							131.0	119.0	123.0					20																	36869729		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869729G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.804C>T	20.37:g.36869729G>A							p.S268S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1075	-		Myeloproliferative disorder(115;0.00874)	268					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.804C>T	CCDS33467.1																																																																																				0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		11	75	0	0	0	0.000978159	0	11	75				
ATP13A4	84239	broad.mit.edu	37	3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2608-2610)Gca>Cca		ATPase type 13A4							133.0	116.0	122.0					3																	193156328		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193156328C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2608G>C	3.37:g.193156328C>G	ENSP00000339182:p.Ala870Pro					ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	p.A870P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	23	2930	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		870					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2608G>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466235	0.96257	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.59364	0.27;0.27	5.87	5.87	0.94306	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87089	0.2171	10	0.87932	D	0	-28.3807	19.1458	0.93467	0.0:1.0:0.0:0.0	.	870	Q4VNC1	AT134_HUMAN	P	851;870	ENSP00000376238:A851P;ENSP00000339182:A870P	ENSP00000339182:A870P	A	-	1	0	ATP13A4	194639022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	GCA		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		25	30	0	0	0	0.000720815	0	25	30				
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(685-687)Agt>Tgt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	76.0	73.0					7																	55220295		2203	4299	6502	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220295A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.685A>T	7.37:g.55220295A>T	ENSP00000275493:p.Ser229Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C	p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	862	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		229					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.685A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802635	0.90623	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.080531	0.85682	D	0.000000	T	0.66237	0.2769	M	0.83223	2.63	0.46823	D	0.999219	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.997	D;P;D;P;P	0.70935	0.971;0.895;0.96;0.831;0.784	T	0.72020	-0.4416	10	0.72032	D	0.01	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	184;229;229;229;229	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	184;229;99;229;229;229;229;176;23	ENSP00000415559:S184C;ENSP00000342376:S229C;ENSP00000345973:S229C;ENSP00000413843:S229C;ENSP00000275493:S229C;ENSP00000410031:S229C;ENSP00000395243:S176C	ENSP00000275493:S229C	S	+	1	0	EGFR	55187789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	1.981000	0.57761	0.533000	0.62120	AGT		0.617	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		56	85	0	0	0	0.000781405	0	56	85				
CDK4	1019	broad.mit.edu	37	12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGCAGCTGTGCTCCCGACTC	0.602			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(805-807)gCa>gTa		cyclin-dependent kinase 4							65.0	72.0	69.0					12																	58142978		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58142978G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.806C>T	12.37:g.58142978G>A	ENSP00000257904:p.Ala269Val					CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|TSPAN31_ENST00000547992.1_3'UTR	p.A269V	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1171	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		269			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.806C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006575	0.35415	.	.	ENSG00000135446	ENST00000257904;ENST00000549606;ENST00000540325;ENST00000546489	T;T;T;T	0.66099	-0.19;1.02;-0.19;-0.19	4.44	4.44	0.53790	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	T	0.36331	0.0963	N	0.05031	-0.125	0.80722	D	1	B	0.24768	0.111	B	0.23574	0.047	T	0.22068	-1.0227	10	0.23891	T	0.37	.	8.57	0.33563	0.1011:0.0:0.8989:0.0	.	269	P11802	CDK4_HUMAN	V	269;6;149;195	ENSP00000257904:A269V;ENSP00000447005:A6V;ENSP00000439076:A149V;ENSP00000447779:A195V	ENSP00000257904:A269V	A	-	2	0	CDK4	56429245	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.666000	0.54540	2.771000	0.95319	0.655000	0.94253	GCA		0.602	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		18	74	0	0	0	0.00074312	0	18	74				
APC2	10297	broad.mit.edu	37	19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|APC2_ENST00000238483.4_Missense_Mutation_p.G1032R			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAgcgcggcgggggcgccgg	0.786																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3916-3918)Ggg>Agg		adenomatosis polyposis coli 2							5.0	6.0	6.0					19																	1467216		1658	3346	5004	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467216G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3916G>A	19.37:g.1467216G>A	ENSP00000442954:p.Gly1306Arg					APC2_ENST00000238483.4_Missense_Mutation_p.G1032R|APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|C19orf25_ENST00000588427.1_Intron	p.G1306R			O95996	APC2_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)	14	5629	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1306			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.3916G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838189	0.16891	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.93247	-3.19;-2.86;-3.19	2.76	0.433	0.16534	.	1.488140	0.03835	N	0.269689	D	0.87067	0.6085	L	0.39898	1.24	0.09310	N	1	B;P	0.47910	0.004;0.902	B;B	0.38616	0.003;0.277	T	0.77528	-0.2554	10	0.13470	T	0.59	-11.4181	3.643	0.08174	0.1641:0.2564:0.5796:0.0	.	1305;1306	O95996-3;O95996	.;APC2_HUMAN	R	1306;1032;1306	ENSP00000233607:G1306R;ENSP00000238483:G1032R;ENSP00000442954:G1306R	ENSP00000233607:G1306R	G	+	1	0	APC2	1418216	0.002000	0.14202	0.000000	0.03702	0.074000	0.17049	0.167000	0.16602	0.195000	0.20347	0.511000	0.50034	GGG		0.786	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	11	0	0	0	0.00024832	0	4	11				
TLE4	7091	broad.mit.edu	37	9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:82320843G>C	ENST00000376552.2	+	10	1787	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376520.4_Missense_Mutation_p.D257H|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	257	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(769-771)Gac>Cac		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							354.0	339.0	344.0					9																	82320843		1937	4153	6090	SO:0001583	missense	7091							g.chr9:82320843G>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.769G>C	9.37:g.82320843G>C	ENSP00000365735:p.Asp257His					TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000376552.2_Missense_Mutation_p.D257H|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR	p.D257H			O60756	BCE1_HUMAN			10	1597	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.769G>C	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942211|4.942211	0.92526|0.92526	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347|ENST00000496114	T;T;T;T;T;T|.	0.75050|.	-0.39;-0.9;-0.88;-0.55;-0.28;0.65|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85592|.	0.5732|.	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.986;1.0;0.991|.	P;D;D|.	0.97110|.	0.858;1.0;0.966|.	D|.	0.86179|.	0.1605|.	10|.	0.87932|.	D|.	0|.	-27.3561|-27.3561	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;257;257|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	H|S	257;257;257;232;242;127|47	ENSP00000365735:D257H;ENSP00000365703:D257H;ENSP00000365720:D257H;ENSP00000265284:D232H;ENSP00000409313:D242H;ENSP00000417844:D127H|.	ENSP00000265284:D232H|.	D|X	+|+	1|2	0|2	TLE4|TLE4	81510663|81510663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	80	0	0	0	0.00116845	0	6	80				
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(871-873)tGc>tTc		DAZ interacting zinc finger protein 3							70.0	75.0	74.0					3																	108353773		2201	4295	6496	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353773G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.872G>T	3.37:g.108353773G>T	ENSP00000355028:p.Cys291Phe					DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			10	1102	+			291					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.872G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274390	0.59649	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000024	T	0.49201	0.1543	N	0.19112	0.55	0.41908	D	0.990454	D;P	0.76494	0.999;0.481	D;B	0.83275	0.996;0.355	T	0.54057	-0.8350	10	0.87932	D	0	-9.4169	13.8419	0.63444	0.0:0.0:1.0:0.0	.	291;291	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	291	ENSP00000355028:C291F;ENSP00000418115:C291F;ENSP00000419981:C291F	ENSP00000355028:C291F	C	+	2	0	DZIP3	109836463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	TGC		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		17	60	1	0	3.51602e-12	0.00121646	1.4969e-11	17	60				
MERTK	10461	broad.mit.edu	37	2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000421804.2_Missense_Mutation_p.E879G|MERTK_ENST00000409780.1_Missense_Mutation_p.E703G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	879					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTTGCTGGAGAGCTCTGAG	0.522																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2635-2637)gAg>gGg		c-mer proto-oncogene tyrosine kinase							126.0	129.0	128.0					2																	112786077		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786077A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2636A>G	2.37:g.112786077A>G	ENSP00000295408:p.Glu879Gly					MERTK_ENST00000421804.2_Missense_Mutation_p.E879G|MERTK_ENST00000409780.1_Missense_Mutation_p.E703G	p.E879G			Q12866	MERTK_HUMAN			19	2893	+			879					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2636A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315260	0.23908	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;D	0.84730	-1.07;-1.07;-1.04;-1.89	5.73	3.34	0.38264	Protein kinase-like domain (1);	0.000000	0.33895	U	0.004446	D	0.82273	0.5001	M	0.71581	2.175	0.43824	D	0.996391	B	0.23650	0.089	B	0.19391	0.025	T	0.76591	-0.2903	10	0.54805	T	0.06	-20.6491	9.0954	0.36636	0.8415:0.0:0.1585:0.0	.	879	Q12866	MERTK_HUMAN	G	879;879;538;703;203	ENSP00000295408:E879G;ENSP00000389152:E879G;ENSP00000387277:E703G;ENSP00000412660:E203G	ENSP00000295408:E879G	E	+	2	0	MERTK	112502548	1.000000	0.71417	0.057000	0.19452	0.012000	0.07955	3.646000	0.54396	0.430000	0.26230	0.533000	0.62120	GAG		0.522	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			43	164	0	0	0	0.000781405	0	43	164				
BSX	390259	broad.mit.edu	37	11	122852272	122852272	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(106-108)gtG>gtA		brain-specific homeobox							37.0	44.0	42.0					11																	122852272		2034	4180	6214	SO:0001819	synonymous_variant	390259							g.chr11:122852272C>T		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.108G>A	11.37:g.122852272C>T							p.V36V	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	1	156	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36						Silent	SNP	ENST00000343035.2	37	c.108G>A	CCDS41728.1																																																																																				0.612	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		3	4	0	0	0	6.4e-05	0	3	4				
MAPK11	5600	broad.mit.edu	37	22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GCACTTGACGATGTTGTTCAG	0.682																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(346-348)aTc>aAc		mitogen-activated protein kinase 11							24.0	27.0	26.0					22																	50705870		2189	4289	6478	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705870A>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.347T>A	22.37:g.50705870A>T	ENSP00000333685:p.Ile116Asn					MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N	p.I116N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	447	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	116			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.347T>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	a	17.28	3.349510	0.61183	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.67345	-0.26;-0.26	5.06	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.84660	0.5521	H	0.94462	3.54	0.80722	D	1	D;P	0.69078	0.997;0.792	D;P	0.75484	0.986;0.835	D	0.85969	0.1475	10	0.87932	D	0	-15.7829	9.6785	0.40056	0.9152:0.0:0.0848:0.0	.	8;116	B7Z630;Q15759	.;MK11_HUMAN	N	116;8	ENSP00000333685:I116N;ENSP00000406921:I8N	ENSP00000333685:I116N	I	-	2	0	MAPK11	49047997	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	5.715000	0.68430	0.785000	0.33685	0.449000	0.29647	ATC		0.682	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			9	12	0	0	0	0.000673444	0	9	12				
RSPO2	340419	broad.mit.edu	37	8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(442-444)gGt>gTt		R-spondin 2							110.0	106.0	107.0					8																	108970481		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970481C>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.443G>T	8.37:g.108970481C>A	ENSP00000276659:p.Gly148Val					RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	p.G148V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1063	-			148			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.443G>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682355	0.88542	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.01;-2.01;-2.75	5.81	5.81	0.92471	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.965	D	0.93623	0.6949	10	0.30854	T	0.27	-2.6947	20.4375	0.99097	0.0:1.0:0.0:0.0	.	148;84	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	V	81;84;84;148;81;81	ENSP00000428940:G81V;ENSP00000427937:G84V;ENSP00000367698:G84V;ENSP00000276659:G148V;ENSP00000428614:G81V;ENSP00000430485:G81V	ENSP00000276659:G148V	G	-	2	0	RSPO2	109039657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.696000	0.68287	2.906000	0.99361	0.655000	0.94253	GGT		0.368	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		20	41	1	0	1.50039e-11	0.00188189	6.33428e-11	20	41				
NEB	4703	broad.mit.edu	37	2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152483591G>C	ENST00000172853.10	-	66	9690	c.9543C>G	c.(9541-9543)gaC>gaG	p.D3181E	NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000427231.2_Missense_Mutation_p.D3424E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E			P20929	NEBU_HUMAN	nebulin	3181					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10270-10272)gaC>gaG		nebulin							131.0	132.0	132.0					2																	152483591		2055	4226	6281	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483591G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9543C>G	2.37:g.152483591G>C	ENSP00000172853:p.Asp3181Glu					NEB_ENST00000172853.10_Missense_Mutation_p.D3181E|NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E	p.D3424E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	70	10474	-			3424					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10272C>G		.	.	.	.	.	.	.	.	.	.	G	12.16	1.855689	0.32791	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05580	3.42;3.48;3.51;3.42	5.39	2.58	0.30949	.	0.196730	0.52532	D	0.000071	T	0.06872	0.0175	L	0.53249	1.67	0.80722	D	1	B	0.15141	0.012	B	0.17098	0.017	T	0.19943	-1.0290	10	0.35671	T	0.21	.	7.0905	0.25282	0.204:0.129:0.667:0.0	.	3181	P20929	NEBU_HUMAN	E	3181;3424;3424;3181	ENSP00000386259:D3181E;ENSP00000380505:D3424E;ENSP00000416578:D3424E;ENSP00000172853:D3181E	ENSP00000172853:D3181E	D	-	3	2	NEB	152191837	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	2.328000	0.43867	0.753000	0.32945	0.655000	0.94253	GAC		0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	111	0	0	0	0.000274275	0	9	111				
NOVA1	4857	broad.mit.edu	37	14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y|NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(643-645)Aac>Tac		neuro-oncological ventral antigen 1							177.0	164.0	168.0					14																	26918046		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918046T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.643A>T	14.37:g.26918046T>A	ENSP00000438875:p.Asn215Tyr					NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y	p.N215Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	960	-			218			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.643A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226980	0.79576	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;0.8	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.78456	2.415	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.997	D;D;D	0.81914	0.953;0.995;0.991	T	0.82275	-0.0538	10	0.72032	D	0.01	-19.9161	16.0142	0.80425	0.0:0.0:0.0:1.0	.	218;191;215	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	Y	191;215;93;174;69;93	ENSP00000447391:N191Y;ENSP00000438875:N215Y;ENSP00000267422:N93Y;ENSP00000408914:N174Y;ENSP00000299472:N69Y;ENSP00000449113:N93Y	ENSP00000267422:N93Y	N	-	1	0	NOVA1	25987886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.187000	0.69744	0.460000	0.39030	AAC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		43	76	0	0	0	0.00222228	0	43	76				
JPH2	57158	broad.mit.edu	37	20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(76-78)Cat>Aat		junctophilin 2							47.0	46.0	47.0					20																	42815270		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815270G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.76C>A	20.37:g.42815270G>T	ENSP00000362071:p.His26Asn					JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	948	-		Myeloproliferative disorder(115;0.0122)	26			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.76C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573156	0.65765	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55234	0.53;0.53	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.63169	1.94	0.80722	D	1	P;D	0.76494	0.674;0.999	P;D	0.80764	0.568;0.994	T	0.68584	-0.5370	10	0.34782	T	0.22	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	26;26	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	N	26	ENSP00000362071:H26N;ENSP00000344590:H26N	ENSP00000344590:H26N	H	-	1	0	JPH2	42248684	1.000000	0.71417	0.440000	0.26846	0.740000	0.42216	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	CAT		0.622	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			8	43	1	0	2.17888e-05	0.000442599	8.48837e-05	8	43				
NAIP	4671	broad.mit.edu	37	5	70308342	70308342	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:70308342T>C	ENST00000517649.1	-	4	691	c.401A>G	c.(400-402)aAc>aGc	p.N134S	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	134					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTTGGCAATGTTACCAACATC	0.488																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(400-402)aAc>aGc		NLR family, apoptosis inhibitory protein							209.0	172.0	184.0					5																	70308342		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308342T>C	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.401A>G	5.37:g.70308342T>C	ENSP00000428657:p.Asn134Ser					NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	691	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	134					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.401A>G	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	t	13.93	2.383908	0.42308	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.72051	-0.62;-0.62;-0.62	3.14	3.14	0.36123	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.35677	U	0.003043	T	0.73426	0.3585	L	0.29908	0.895	0.35335	D	0.785948	D;D	0.89917	0.997;1.0	D;D	0.83275	0.97;0.996	T	0.79217	-0.1894	10	0.51188	T	0.08	.	11.2839	0.49210	0.0:0.0:0.0:1.0	.	134;134	E7EQW0;Q13075	.;BIRC1_HUMAN	S	134	ENSP00000428657:N134S;ENSP00000443944:N134S;ENSP00000429545:N134S	ENSP00000443944:N134S	N	-	2	0	NAIP	70344098	1.000000	0.71417	0.961000	0.40146	0.214000	0.24535	4.918000	0.63376	1.673000	0.50895	0.358000	0.22013	AAC		0.488	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		36	126	0	0	0	0.00111076	0	36	126				
RALGAPA2	57186	broad.mit.edu	37	20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:20616166C>T	ENST00000202677.7	-	9	908	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(901-903)Gtt>Att		Ral GTPase activating protein, alpha subunit 2 (catalytic)							145.0	143.0	144.0					20																	20616166		1841	4085	5926	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20616166C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.901G>A	20.37:g.20616166C>T	ENSP00000202677:p.Val301Ile						p.V301I	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			9	1043	-			301					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.901G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.526847|5.526847	0.96431|0.96431	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490	.|T;T	.|0.78595	.|-1.19;-1.19	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.109052	.|0.64402	.|D	.|0.000008	D|D	0.88610|0.88610	0.6483|0.6483	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66196	.|0.942	D|D	0.89423|0.89423	0.3711|0.3711	5|10	.|0.72032	.|D	.|0.01	.|.	19.6557|19.6557	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301	.|Q2PPJ7	.|RGPA2_HUMAN	Y|I	152|301;153;153	.|ENSP00000202677:V301I;ENSP00000400901:V153I	.|ENSP00000202677:V301I	C|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20564166|20564166	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.996000|0.996000	0.88848|0.88848	7.386000|7.386000	0.79775|0.79775	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	TGT|GTT		0.358	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	121	0	0	0	0.00116845	0	6	121				
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418																																						ENST00000382758.1																			1	Substitution - Missense(1)	p.E46D(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(3)	7						c.(136-138)gaG>gaA		N-6 adenine-specific DNA methyltransferase 2 (putative)							215.0	193.0	201.0					13																	21331600		2203	4300	6503	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331600C>T	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.138G>A	13.37:g.21331600C>T						N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR	p.E46E			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	185	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	46					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.138G>A	CCDS9293.1																																																																																				0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		23	57	0	0	0	0.00278032	0	23	57				
PTPN13	5783	broad.mit.edu	37	4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:87703369G>A	ENST00000411767.2	+	37	6041	c.5978G>A	c.(5977-5979)gGg>gAg	p.G1993E	PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000436978.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5992-5994)gGg>gAg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							146.0	141.0	143.0					4																	87703369		1931	4122	6053	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87703369G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5978G>A	4.37:g.87703369G>A	ENSP00000407249:p.Gly1993Glu					PTPN13_ENST00000411767.2_Missense_Mutation_p.G1993E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E	p.G1998E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	37	6473	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1993					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5993G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286621	0.01387	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.47528	0.84;0.87;0.94;0.84;0.87	4.98	1.12	0.20585	.	0.936177	0.08854	N	0.884055	T	0.15305	0.0369	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	.	6.1666	0.20394	0.6942:0.0:0.3058:0.0	.	1802;1974;1993;1998	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	1974;1998;1802;1993;1998;1942	ENSP00000408368:G1974E;ENSP00000394794:G1998E;ENSP00000322675:G1802E;ENSP00000407249:G1993E;ENSP00000426626:G1998E	ENSP00000322675:G1802E	G	+	2	0	PTPN13	87922393	0.013000	0.17824	0.003000	0.11579	0.000000	0.00434	1.258000	0.32944	0.458000	0.26988	-0.300000	0.09419	GGG		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			9	85	0	0	0	0.000978159	0	9	85				
ASB16	92591	broad.mit.edu	37	17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(79-81)Gac>Cac		ankyrin repeat and SOCS box containing 16							21.0	21.0	21.0					17																	42248236		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248236G>C	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.79G>C	17.37:g.42248236G>C	ENSP00000293414:p.Asp27His						p.D27H	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	163	+		Breast(137;0.00765)|Prostate(33;0.0313)	27					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.79G>C	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316620	0.81469	.	.	ENSG00000161664	ENST00000293414	T	0.63913	-0.07	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72272	-0.4342	10	0.66056	D	0.02	-42.4346	17.7963	0.88572	0.0:0.0:1.0:0.0	.	27	Q96NS5	ASB16_HUMAN	H	27	ENSP00000293414:D27H	ENSP00000293414:D27H	D	+	1	0	ASB16	39603762	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	4.426000	0.59882	2.735000	0.93741	0.561000	0.74099	GAC		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			10	45	0	0	0	0.000673444	0	10	45				
CCIN	881	broad.mit.edu	37	9	36170744	36170744	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1243-1245)ggC>ggT		calicin							155.0	112.0	127.0					9																	36170744		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170744C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1245C>T	9.37:g.36170744C>T							p.G415G	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1356	+			415					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1245C>T	CCDS6599.1																																																																																				0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		29	43	0	0	0	0.001512	0	29	43				
LRRC40	55631	broad.mit.edu	37	1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1480-1482)cTg>cAg		leucine rich repeat containing 40							56.0	57.0	56.0					1																	70616847		2200	4293	6493	SO:0001583	missense	55631							g.chr1:70616847A>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1481T>A	1.37:g.70616847A>T	ENSP00000359990:p.Leu494Gln						p.L494Q	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			13	1560	-			494					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1481T>A	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154929	0.57259	.	.	ENSG00000066557	ENST00000370952	T	0.62639	0.01	5.74	4.6	0.57074	.	0.069659	0.53938	D	0.000052	T	0.79446	0.4447	M	0.93939	3.475	0.43536	D	0.995829	D	0.89917	1.0	D	0.80764	0.994	D	0.84989	0.0893	10	0.87932	D	0	.	13.1144	0.59292	0.8663:0.1337:0.0:0.0	.	494	Q9H9A6	LRC40_HUMAN	Q	494	ENSP00000359990:L494Q	ENSP00000359990:L494Q	L	-	2	0	LRRC40	70389435	0.724000	0.28038	0.353000	0.25747	0.532000	0.34746	5.810000	0.69179	0.968000	0.38212	0.533000	0.62120	CTG		0.284	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		10	19	0	0	0	0.000978159	0	10	19				
DNAH9	1770	broad.mit.edu	37	17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:11573072T>G	ENST00000262442.4	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTGGAGCCTCCTGTTCAAA	0.453																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3313-3315)cTc>cGc		dynein, axonemal, heavy chain 9							135.0	135.0	135.0					17																	11573072		2202	4300	6502	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11573072T>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3314T>G	17.37:g.11573072T>G	ENSP00000262442:p.Leu1105Arg					DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3382	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1105			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3314T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150667	0.37923	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26223	1.79;1.75	4.9	4.9	0.64082	.	0.234309	0.34507	N	0.003909	T	0.27663	0.0680	M	0.63843	1.955	0.80722	D	1	B	0.30179	0.271	B	0.28553	0.091	T	0.04693	-1.0933	10	0.27785	T	0.31	.	14.805	0.69945	0.0:0.0:0.0:1.0	.	1105	Q9NYC9	DYH9_HUMAN	R	1105	ENSP00000262442:L1105R;ENSP00000414874:L1105R	ENSP00000262442:L1105R	L	+	2	0	DNAH9	11513797	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.196000	0.72094	1.949000	0.56562	0.482000	0.46254	CTC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	95	0	0	0	0.00170553	0	40	95				
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000339310.3_Silent_p.S54S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(991-993)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		G	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	94.0	101.0		993,717,993	-7.0	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343337G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A						POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.S331S|DPCD_ENST00000470165.1_Intron	p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1487	-		Colorectal(252;0.234)	331					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.993C>T	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		15	29	0	0	0	0.000308642	0	15	29				
DPP6	1804	broad.mit.edu	37	7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:154172062G>C	ENST00000377770.3	+	3	538	c.397G>C	c.(397-399)Gta>Cta	p.V133L	DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000404039.1_Missense_Mutation_p.V69L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					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)			GAAGGTCACTGTAGAAGATCT	0.403																																					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.(205-207)Gta>Cta		dipeptidyl-peptidase 6							92.0	89.0	90.0					7																	154172062		1896	4115	6011	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172062G>C	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.397G>C	7.37:g.154172062G>C	ENSP00000367001:p.Val133Leu					DPP6_ENST00000377770.3_Missense_Mutation_p.V133L|DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L	p.V69L	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)		3	792	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	133						Missense_Mutation	SNP	ENST00000377770.3	37	c.205G>C		.	.	.	.	.	.	.	.	.	.	G	6.123	0.390986	0.11581	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.16	4.28	0.50868	.	0.203051	0.43747	D	0.000523	T	0.11067	0.0270	.	.	.	0.39772	D	0.972183	B;B;B;B;B;B	0.26081	0.001;0.073;0.027;0.034;0.141;0.034	B;B;B;B;B;B	0.25140	0.003;0.034;0.012;0.008;0.058;0.008	T	0.10965	-1.0607	9	0.02654	T	1	-13.2497	9.734	0.40377	0.096:0.0:0.904:0.0	.	71;71;71;133;133;69	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	L	69;133;133;71;71	ENSP00000385578:V69L;ENSP00000384393:V133L;ENSP00000367001:V133L;ENSP00000328226:V71L;ENSP00000397303:V71L	ENSP00000328226:V71L	V	+	1	0	DPP6	153802995	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	4.430000	0.59907	1.280000	0.44463	0.650000	0.86243	GTA		0.403	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		39	44	0	0	0	0.00170553	0	39	44				
SLC2A2	6514	broad.mit.edu	37	3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATCATCATATCCTCTGAGTCT	0.343																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(793-795)gGa>gAa		solute carrier family 2 (facilitated glucose transporter), member 2							90.0	84.0	86.0					3																	170723243		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170723243C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.794G>A	3.37:g.170723243C>T	ENSP00000323568:p.Gly265Glu					SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	p.G265E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		7	873	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		265					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.794G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622622	0.87460	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.76578	-1.03;-1.03;-1.03	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	H	0.96048	3.76	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.93735	0.7045	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	265	P11168	GTR2_HUMAN	E	265;146;92	ENSP00000323568:G265E;ENSP00000372258:G146E;ENSP00000418888:G92E	ENSP00000323568:G265E	G	-	2	0	SLC2A2	172205937	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	7.414000	0.80117	2.836000	0.97738	0.655000	0.94253	GGA		0.343	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		26	58	0	0	0	0.001512	0	26	58				
SETX	23064	broad.mit.edu	37	9	135204921	135204921	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:135204921G>A	ENST00000224140.5	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000372169.2_Silent_p.C688C|SETX_ENST00000393220.1_Silent_p.C688C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	688					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2062-2064)tgC>tgT		senataxin							78.0	78.0	78.0					9																	135204921		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204921G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2064C>T	9.37:g.135204921G>A						SETX_ENST00000393220.1_Silent_p.C688C|SETX_ENST00000224140.5_Silent_p.C688C	p.C688C			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2246	-		Myeloproliferative disorder(178;0.204)	688					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2064C>T	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		25	43	0	0	0	0.00278032	0	25	43				
CEP250	11190	broad.mit.edu	37	20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2704-2706)Cag>Tag		centrosomal protein 250kDa							119.0	104.0	109.0					20																	34078580		2203	4300	6503	SO:0001587	stop_gained	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34078580C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2704C>T	20.37:g.34078580C>T	ENSP00000380661:p.Gln902*					RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Intron	p.Q902*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		21	3424	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		902			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.2704C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	44	10.604332	0.99436	.	.	ENSG00000126001	ENST00000397527	.	.	.	4.47	4.47	0.54385	.	0.685577	0.13376	N	0.392536	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	.	.	.	X	902	.	ENSP00000380661:Q902X	Q	+	1	0	CEP250	33541994	0.052000	0.20516	0.008000	0.14137	0.092000	0.18411	3.486000	0.53215	2.503000	0.84419	0.555000	0.69702	CAG		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		9	77	0	0	0	0.000442599	0	9	77				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			645166							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				3	11	0	0	0	0.00024832	0	3	11				
SLC27A6	28965	broad.mit.edu	37	5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(988-990)Cat>Aat		solute carrier family 27 (fatty acid transporter), member 6							107.0	110.0	109.0					5																	128351596		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128351596C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.988C>A	5.37:g.128351596C>A	ENSP00000262462:p.His330Asn					SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N	p.H330N			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	5	1998	+		all_cancers(142;0.0483)|Prostate(80;0.055)	330					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.988C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885414	0.51908	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.49432	2.88;0.78;0.78;0.78	4.03	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.84846	2.72	0.58432	D	0.999997	D	0.65815	0.995	D	0.67382	0.951	T	0.75938	-0.3141	9	.	.	.	-7.1775	17.5651	0.87917	0.0:1.0:0.0:0.0	.	330	Q9Y2P4	S27A6_HUMAN	N	149;330;330;330	ENSP00000421759:H149N;ENSP00000262462:H330N;ENSP00000378684:H330N;ENSP00000421024:H330N	.	H	+	1	0	SLC27A6	128379495	1.000000	0.71417	0.918000	0.36340	0.167000	0.22549	7.082000	0.76851	2.558000	0.86282	0.461000	0.40582	CAT		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	30	1	0	3.86212e-05	0.000673444	0.000147609	11	30				
ZNF844	284391	broad.mit.edu	37	19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383																																						ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1141-1143)Gac>Cac		zinc finger protein 844							42.0	38.0	39.0					19																	12187076		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187076G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1141G>C	19.37:g.12187076G>C	ENSP00000392024:p.Asp381His					ZNF844_ENST00000441304.2_3'UTR	p.D381H	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1316	+			381					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1141G>C	CCDS45985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.338|8.338	0.828009|0.828009	0.16749|0.16749	.|.	.|.	ENSG00000223547|ENSG00000223547	ENST00000535505|ENST00000439326;ENST00000541708	.|T	.|0.05258	.|3.47	2.75|2.75	-5.5|-5.5	0.02576|0.02576	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04770	.|0.0129	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.47673	.|0.554	.|T	.|0.04440	.|-1.0951	.|9	.|0.32370	.|T	.|0.25	.|.	3.4921|3.4921	0.07641|0.07641	0.3835:0.0:0.2123:0.4042|0.3835:0.0:0.2123:0.4042	.|.	.|381	.|Q08AG5	.|ZN844_HUMAN	.|H	-1|381	.|ENSP00000392024:D381H	.|ENSP00000392024:D381H	.|D	+|+	.|1	.|0	ZNF844|ZNF844	12048076|12048076	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.100000|0.100000	0.18952|0.18952	-4.191000|-4.191000	0.00277|0.00277	-1.971000|-1.971000	0.01002|0.01002	0.411000|0.411000	0.27672|0.27672	.|GAC		0.383	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			7	21	0	0	0	0.00198382	0	7	21				
HIST1H2BG	8339	broad.mit.edu	37	6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(31-33)cCg>cGg		histone cluster 1, H2bg							110.0	102.0	105.0					6																	26216840		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216840G>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.32C>G	6.37:g.26216840G>C	ENSP00000244601:p.Pro11Arg						p.P11R	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	32	-		all_hematologic(11;0.196)	11					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.32C>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.952614	0.53293	.	.	ENSG00000187990	ENST00000244601	T	0.22539	1.95	3.9	3.9	0.45041	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.37057	D	0.897897	.	.	.	.	.	.	T	0.17684	-1.0361	6	0.87932	D	0	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	R	11	ENSP00000244601:P11R	ENSP00000244601:P11R	P	-	2	0	HIST1H2BG	26324819	1.000000	0.71417	0.104000	0.21259	0.169000	0.22640	9.377000	0.97184	2.163000	0.67991	0.655000	0.94253	CCG		0.493	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		10	113	0	0	0	0.000442599	0	10	113				
KRTAP10-4	386672	broad.mit.edu	37	21	45993766	45993766	+	Missense_Mutation	SNP	C	C	A	rs371402039		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:45993766C>A	ENST00000400374.3	+	1	161	c.131C>A	c.(130-132)cCc>cAc	p.P44H	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	44	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCTGCGCCCCCAGCTGCTGC	0.711																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(130-132)cCc>cAc		keratin associated protein 10-4							21.0	26.0	25.0					21																	45993766		1903	4093	5996	SO:0001583	missense	386672					keratin filament		g.chr21:45993766C>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.131C>A	21.37:g.45993766C>A	ENSP00000383225:p.Pro44His					TSPEAR_ENST00000323084.4_Intron	p.P44H	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	161	+			44			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.131C>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	15.12	2.738626	0.49045	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.09817	2.94	4.52	4.52	0.55395	.	.	.	.	.	T	0.39682	0.1087	M	0.88704	2.975	0.33988	D	0.64883	D	0.89917	1.0	D	0.87578	0.998	T	0.61955	-0.6956	9	0.87932	D	0	.	15.0602	0.71947	0.0:1.0:0.0:0.0	.	44	P60372	KR104_HUMAN	H	44;33	ENSP00000383225:P44H	ENSP00000333987:P33H	P	+	2	0	KRTAP10-4	44818194	0.464000	0.25807	1.000000	0.80357	0.064000	0.16182	0.942000	0.29017	2.204000	0.70986	0.471000	0.43371	CCC		0.711	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		15	27	1	0	3.8784e-16	0.00188189	1.70144e-15	15	27				
ZNF486	90649	broad.mit.edu	37	19	20308131	20308131	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(610-612)gaT>gaC		zinc finger protein 486							36.0	39.0	38.0					19																	20308131		2116	4253	6369	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308131T>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.612T>C	19.37:g.20308131T>C						CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	p.D204D	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	669	+			204					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.612T>C	CCDS46029.1																																																																																				0.358	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		18	38	0	0	0	0.00074312	0	18	38				
SERTAD1	29950	broad.mit.edu	37	19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(112-114)Ccg>Tcg		SERTA domain containing 1							24.0	28.0	27.0					19																	40929342		2195	4289	6484	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929342G>A	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.112C>T	19.37:g.40929342G>A	ENSP00000350633:p.Pro38Ser						p.P38S	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	270	-			38			SERTA.		Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.112C>T	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	2.759	-0.258289	0.05791	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	5.0	2.76	0.32466	.	0.584002	0.17754	N	0.163133	T	0.26484	0.0647	N	0.22421	0.69	0.09310	N	1	B	0.26081	0.141	B	0.25759	0.063	T	0.17349	-1.0372	10	0.13108	T	0.6	-0.5853	11.6817	0.51461	0.0:0.3427:0.6573:0.0	.	38	Q9UHV2	SRTD1_HUMAN	S	38	ENSP00000350633:P38S	ENSP00000350633:P38S	P	-	1	0	SERTAD1	45621182	0.741000	0.28217	0.004000	0.12327	0.011000	0.07611	1.584000	0.36589	0.460000	0.27045	0.561000	0.74099	CCG		0.647	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		12	21	0	0	0	0.00185496	0	12	21				
ITPR1	3708	broad.mit.edu	37	3	4768850	4768850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:4768850A>G	ENST00000443694.2	+	39	5168	c.5168A>G	c.(5167-5169)cAt>cGt	p.H1723R	ITPR1_ENST00000302640.8_Missense_Mutation_p.H1723R|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1738					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGAAGACCATAAAAGGGTA	0.478																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5167-5169)cAt>cGt		inositol 1,4,5-trisphosphate receptor, type 1							92.0	85.0	87.0					3																	4768850		1568	3582	5150	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4768850A>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5168A>G	3.37:g.4768850A>G	ENSP00000401671:p.His1723Arg					ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.H1723R|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000544951.1_Intron	p.H1723R	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	41	5518	+			1738					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5168A>G	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655297	0.29425	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000426160;ENST00000443694	D;D	0.90324	-2.65;-2.65	5.97	5.97	0.96955	.	0.074804	0.56097	D	0.000035	T	0.77212	0.4097	N	0.02011	-0.69	0.80722	D	1	.	.	.	.	.	.	T	0.76465	-0.2949	8	0.15499	T	0.54	.	11.5191	0.50541	0.8663:0.0:0.0:0.1337	.	.	.	.	R	1738;1723;184;1723	ENSP00000306253:H1723R;ENSP00000401671:H1723R	ENSP00000306253:H1723R	H	+	2	0	ITPR1	4743850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.325000	0.72901	2.281000	0.76405	0.533000	0.62120	CAT		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		17	43	0	0	0	0.00152264	0	17	43				
CCDC117	150275	broad.mit.edu	37	22	29169754	29169754	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:29169754A>T	ENST00000249064.4	+	2	403	c.227A>T	c.(226-228)gAg>gTg	p.E76V	CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V|CCDC117_ENST00000443309.2_De_novo_Start_OutOfFrame	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	76										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373																																						ENST00000443309.2																			0				breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7								coiled-coil domain containing 117							289.0	254.0	266.0					22																	29169754		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29169754A>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.227A>T	22.37:g.29169754A>T	ENSP00000249064:p.Glu76Val					CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000249064.4_Missense_Mutation_p.E76V|CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V				Q8IWD4	CC117_HUMAN			0	122	+								A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Translation_Start_Site	SNP	ENST00000249064.4	37		CCDS13846.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056827	0.76074	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.15834	2.39;2.39	5.24	3.0	0.34707	.	0.384575	0.26136	N	0.026133	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	B;B	0.26809	0.069;0.16	B;B	0.30029	0.11;0.11	T	0.05500	-1.0881	10	0.72032	D	0.01	.	11.0194	0.47709	0.7846:0.2154:0.0:0.0	.	76;76	B7Z2V1;Q8IWD4	.;CC117_HUMAN	V	76	ENSP00000249064:E76V;ENSP00000387827:E76V	ENSP00000249064:E76V	E	+	2	0	CCDC117	27499754	1.000000	0.71417	0.959000	0.39883	0.983000	0.72400	2.172000	0.42463	0.375000	0.24679	0.459000	0.35465	GAG		0.373	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		9	11	0	0	0	0.000442599	0	9	11				
BAZ1A	11177	broad.mit.edu	37	14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	rs116485187		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:35245154C>T	ENST00000382422.2	-	17	3131	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R935H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2803-2805)cGt>cAt		bromodomain adjacent to zinc finger domain, 1A							49.0	49.0	49.0					14																	35245154		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245154C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2804G>A	14.37:g.35245154C>T	ENSP00000371859:p.Arg935His					BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R935H	p.R935H	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	3371	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		935					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2804G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	6.514	0.462991	0.12402	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.72615	-0.67;-0.67;-0.67	5.61	-4.64	0.03349	.	1.126930	0.06415	N	0.721326	T	0.48295	0.1492	N	0.04636	-0.2	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.28839	-1.0031	10	0.33940	T	0.23	.	15.0915	0.72198	0.0:0.6715:0.0:0.3285	.	903;935	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	903;935;935;587	ENSP00000351555:R903H;ENSP00000371859:R935H;ENSP00000353458:R935H	ENSP00000351555:R903H	R	-	2	0	BAZ1A	34314905	0.000000	0.05858	0.137000	0.22149	0.983000	0.72400	-1.850000	0.01670	-0.879000	0.04002	0.655000	0.94253	CGT		0.353	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	29	0	0	0	0.000442599	0	10	29				
SKAP1	8631	broad.mit.edu	37	17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(907-909)tGg>tAg		src kinase associated phosphoprotein 1							103.0	86.0	92.0					17																	46239901		2203	4300	6503	SO:0001587	stop_gained	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46239901C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.908G>A	17.37:g.46239901C>T	ENSP00000338171:p.Trp303*					SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			11	977	-			303			SH3.		D3DTV1|O15268	Nonsense_Mutation	SNP	ENST00000336915.6	37	c.908G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	37	6.426581	0.97559	.	.	ENSG00000141293	ENST00000336915	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000338171:W303X	W	-	2	0	SKAP1	43594900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.317000	0.79018	2.765000	0.95021	0.655000	0.94253	TGG		0.463	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		12	70	0	0	0	0.00185496	0	12	70				
PLPPR4	9890	broad.mit.edu	37	1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L|LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1744-1746)Atg>Ctg									60.0	61.0	61.0					1																	99772018		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772018A>C																												ENST00000370185.3:c.1744A>C	1.37:g.99772018A>C	ENSP00000359204:p.Met582Leu					LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L|LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L	p.M582L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2241	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	582					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1744A>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023946	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.42;2.37;1.89	6.06	6.06	0.98353	.	0.080350	0.85682	D	0.000000	T	0.15609	0.0376	L	0.52126	1.63	0.50813	D	0.999892	B;B	0.19200	0.034;0.025	B;B	0.27887	0.015;0.084	T	0.05338	-1.0891	9	.	.	.	-32.9809	16.6093	0.84858	1.0:0.0:0.0:0.0	.	524;582	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	582;524;424	ENSP00000359204:M582L;ENSP00000394913:M524L;ENSP00000359203:M424L	.	M	+	1	0	RP4-788L13.1	99544606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.837000	0.69381	2.324000	0.78689	0.533000	0.62120	ATG		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			23	47	0	0	0	0.00278032	0	23	47				
CECR2	27443	broad.mit.edu	37	22	18031816	18031816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:18031816C>T	ENST00000400585.2	+	18	4324	c.3886C>T	c.(3886-3888)Ccc>Tcc	p.P1296S	CECR2_ENST00000262608.8_Missense_Mutation_p.P1439S|CECR2_ENST00000400573.5_Missense_Mutation_p.P1438S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1480					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCAACACTTCCCCTGGATCA	0.498																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(4315-4317)Ccc>Tcc		cat eye syndrome chromosome region, candidate 2							58.0	60.0	59.0					22																	18031816		2011	4174	6185	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18031816C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3886C>T	22.37:g.18031816C>T	ENSP00000383428:p.Pro1296Ser					CECR2_ENST00000400573.4_Missense_Mutation_p.P1438S|CECR2_ENST00000400585.2_Missense_Mutation_p.P1296S	p.P1439S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	17	4315	+		all_epithelial(15;0.139)	1480					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.4315C>T		.	.	.	.	.	.	.	.	.	.	C	9.232	1.036010	0.19590	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.36157	1.39;1.38;1.27	4.93	3.85	0.44370	.	0.124208	0.36555	N	0.002526	T	0.37183	0.0994	M	0.69823	2.125	0.42291	D	0.99213	B;B;B	0.29531	0.247;0.247;0.247	B;B;B	0.23716	0.048;0.048;0.048	T	0.41556	-0.9502	10	0.87932	D	0	-9.955	12.4789	0.55831	0.0:0.9119:0.0:0.0881	.	1480;1296;1438	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	S	1296;1438;1439	ENSP00000383428:P1296S;ENSP00000383417:P1438S;ENSP00000262608:P1439S	ENSP00000262608:P1439S	P	+	1	0	CECR2	16411816	1.000000	0.71417	0.991000	0.47740	0.026000	0.11368	3.279000	0.51670	1.309000	0.44985	0.462000	0.41574	CCC		0.498	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	32	0	0	0	0.00136819	0	12	32				
PGAP1	80055	broad.mit.edu	37	2	197767327	197767327	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:197767327G>T	ENST00000354764.4	-	5	903	c.789C>A	c.(787-789)acC>acA	p.T263T	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000409188.1_Silent_p.T221T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	263					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAAGGCACTGGTATGATGGC	0.358																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(787-789)acC>acA		post-GPI attachment to proteins 1							87.0	93.0	91.0					2																	197767327		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767327G>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.789C>A	2.37:g.197767327G>T						PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000409188.1_Silent_p.T221T	p.T263T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			5	903	-			263					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.789C>A	CCDS2318.1																																																																																				0.358	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		16	37	1	0	2.48551e-13	0.000566183	1.07634e-12	16	37				
ARPP21	10777	broad.mit.edu	37	3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2119-2121)Aac>Tac		cAMP-regulated phosphoprotein, 21kDa							158.0	143.0	148.0					3																	35833960		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35833960A>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2119A>T	3.37:g.35833960A>T	ENSP00000187397:p.Asn707Tyr					ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y	p.N707Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			19	2575	+			707			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2119A>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193813	0.58017	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	4.56	0.56223	.	0.573269	0.18527	N	0.138603	T	0.44074	0.1276	L	0.40543	1.245	0.26723	N	0.970739	P;P;B;P	0.52692	0.606;0.955;0.198;0.606	B;P;B;B	0.48089	0.242;0.566;0.113;0.242	T	0.22521	-1.0214	10	0.22109	T	0.4	-1.6253	11.4139	0.49941	0.9297:0.0:0.0703:0.0	.	708;230;707;688	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	Y	708;688;688;707;708	ENSP00000414351:N708Y;ENSP00000337792:N688Y;ENSP00000405276:N688Y;ENSP00000187397:N707Y;ENSP00000412326:N708Y	ENSP00000187397:N707Y	N	+	1	0	ARPP21	35808964	1.000000	0.71417	0.554000	0.28268	0.748000	0.42578	3.530000	0.53539	0.996000	0.38943	0.533000	0.62120	AAC		0.463	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		33	61	0	0	0	0.00178596	0	33	61				
MYH8	4626	broad.mit.edu	37	17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(694-696)Gcc>Ccc		myosin, heavy chain 8, skeletal muscle, perinatal							133.0	135.0	135.0					17																	10318656		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318656C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.694G>C	17.37:g.10318656C>G	ENSP00000384330:p.Ala232Pro					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A232P	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			8	788	-			232			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.694G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555152	0.86231	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82893	-1.66	4.53	4.53	0.55603	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000884	D	0.94670	0.8281	H	0.98068	4.14	0.80722	D	1	P	0.50617	0.937	D	0.75020	0.985	D	0.96755	0.9557	10	0.87932	D	0	.	17.4462	0.87579	0.0:1.0:0.0:0.0	.	232	P13535	MYH8_HUMAN	P	232	ENSP00000384330:A232P	ENSP00000252173:A232P	A	-	1	0	MYH8	10259381	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.522000	0.81844	2.356000	0.79943	0.655000	0.94253	GCC		0.502	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		28	75	0	0	0	0.00127121	0	28	75				
CDH9	1007	broad.mit.edu	37	5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A	rs183180776	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318													G|||	4	0.000798722	0.0	0.0058	5008	,	,		15449	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(814-816)aCg>aTg		cadherin 9, type 2 (T1-cadherin)		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	89.0	83.0	85.0		815	5.8	1.0	5		85	0,8598		0,0,4299	yes	missense	CDH9	NM_016279.3	81	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	272/790	26903930	2,13002	2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903930G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.815C>T	5.37:g.26903930G>A	ENSP00000231021:p.Thr272Met						p.T272M	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	987	-			272			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.815C>T	CCDS3893.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	13.07	2.126028	0.37533	4.54E-4	0.0	ENSG00000113100	ENST00000231021	T	0.38887	1.11	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.253267	0.40728	N	0.001026	T	0.27900	0.0687	L	0.45470	1.425	0.36323	D	0.858353	B	0.27594	0.182	B	0.26969	0.075	T	0.26258	-1.0108	9	.	.	.	.	12.2865	0.54795	0.078:0.0:0.922:0.0	.	272	Q9ULB4	CADH9_HUMAN	M	272	ENSP00000231021:T272M	.	T	-	2	0	CDH9	26939687	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	3.780000	0.55386	2.885000	0.99019	0.655000	0.94253	ACG		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	28	0	0	0	0.00198382	0	7	28				
ARHGAP29	9411	broad.mit.edu	37	1	94669495	94669495	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGAATTCCAATGTTAGTTC	0.338																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(751-753)atT>atC		Rho GTPase activating protein 29							81.0	80.0	80.0					1																	94669495		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94669495A>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.753T>C	1.37:g.94669495A>G						ARHGAP29_ENST00000370217.3_Silent_p.I251I	p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	8	935	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	251					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.753T>C	CCDS748.1																																																																																				0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		7	26	0	0	0	0.000157383	0	7	26				
ZNF568	374900	broad.mit.edu	37	19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37441482G>A	ENST00000333987.7	+	7	1933	c.1427G>A	c.(1426-1428)tGc>tAc	p.C476Y	ZNF568_ENST00000415168.1_Missense_Mutation_p.C412Y|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAGTGAATGT	0.393																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1234-1236)tGc>tAc		zinc finger protein 568							58.0	63.0	61.0					19																	37441482		2202	4300	6502	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441482G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1427G>A	19.37:g.37441482G>A	ENSP00000334685:p.Cys476Tyr					ZNF568_ENST00000333987.7_Missense_Mutation_p.C476Y|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	p.C412Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1611	+	Esophageal squamous(110;0.183)		476					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1235G>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175969	0.57692	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85088	-1.94;-1.94	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36665	N	0.002468	D	0.94810	0.8324	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96175	0.9126	10	0.72032	D	0.01	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	476	Q3ZCX4	ZN568_HUMAN	Y	476;412	ENSP00000334685:C476Y;ENSP00000394514:C412Y	ENSP00000334685:C476Y	C	+	2	0	ZNF568	42133322	1.000000	0.71417	0.975000	0.42487	0.635000	0.38103	7.104000	0.77024	2.204000	0.70986	0.467000	0.42956	TGC		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		20	61	0	0	0	0.00121646	0	20	61				
HFM1	164045	broad.mit.edu	37	1	91859650	91859650	+	Splice_Site	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494G>C	c.(493-495)aGa>aCa	p.R165T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		taataattaCCTTTTCCGGAA	0.289																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.e4+1		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							28.0	30.0	30.0					1																	91859650		2194	4285	6479	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859650C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.494+1G>C	1.37:g.91859650C>G						HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.R165_splice	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	592	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	165					B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37	c.494_splice	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326733	0.41197	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60299	0.2;1.31	4.34	4.34	0.51931	.	6.927540	0.01639	U	0.023941	T	0.33876	0.0878	L	0.27053	0.805	0.80722	D	1	P;P	0.47762	0.9;0.51	B;B	0.39419	0.299;0.098	T	0.30060	-0.9991	9	.	.	.	.	13.0581	0.58992	0.0:1.0:0.0:0.0	.	165;165	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	165;198;123	ENSP00000359454:R165T;ENSP00000388900:R123T	.	R	-	2	0	HFM1	91632238	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.651000	0.54431	2.373000	0.80994	0.591000	0.81541	AGA		0.289	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	9	10	0	0	0	0.000274275	0	9	10				
PXDN	7837	broad.mit.edu	37	2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3595-3597)gAg>gGg		peroxidasin homolog (Drosophila)							104.0	113.0	110.0					2																	1651956		2002	4174	6176	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651956T>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3596A>G	2.37:g.1651956T>C	ENSP00000252804:p.Glu1199Gly						p.E1199G	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3646	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1199					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3596A>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682704	0.68157	.	.	ENSG00000130508	ENST00000252804	T	0.70516	-0.49	5.48	4.26	0.50523	.	0.170105	0.51477	D	0.000082	T	0.77618	0.4157	M	0.81112	2.525	0.54753	D	0.999985	P	0.48294	0.908	P	0.50537	0.643	T	0.81212	-0.1035	10	0.62326	D	0.03	-41.6678	12.2124	0.54388	0.0:0.0:0.1422:0.8578	.	1199	Q92626	PXDN_HUMAN	G	1199	ENSP00000252804:E1199G	ENSP00000252804:E1199G	E	-	2	0	PXDN	1630963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.158000	0.71851	2.092000	0.63282	0.529000	0.55759	GAG		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		34	202	0	0	0	0.00058488	0	34	202				
HSPA4L	22824	broad.mit.edu	37	4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:128732697C>T	ENST00000296464.4	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1483-1485)gCa>gTa		heat shock 70kDa protein 4-like							97.0	92.0	94.0					4																	128732697		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128732697C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1484C>T	4.37:g.128732697C>T	ENSP00000296464:p.Ala495Val					HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V|HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V	p.A495V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			12	1895	+			495					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1484C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088300	0.94100	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.37561	1.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.59768	-0.7392	10	0.49607	T	0.09	.	17.4607	0.87619	0.0:1.0:0.0:0.0	.	469;495;495	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	V	495;526;495;454;469	ENSP00000422482:A495V;ENSP00000393926:A526V;ENSP00000296464:A495V;ENSP00000427305:A454V;ENSP00000425645:A469V	ENSP00000296464:A495V	A	+	2	0	HSPA4L	128952147	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.036000	0.76524	2.311000	0.77944	0.650000	0.86243	GCA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		8	26	0	0	0	0.000157383	0	8	26				
TCEAL2	140597	broad.mit.edu	37	X	101382277	101382277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(475-477)Gat>Tat		transcription elongation factor A (SII)-like 2							128.0	124.0	126.0					X																	101382277		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382277G>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.475G>T	X.37:g.101382277G>T	ENSP00000361866:p.Asp159Tyr					TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	694	+			159					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.475G>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055354	0.55325	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.10099	2.91;2.91	3.17	1.37	0.22104	.	0.279161	0.25786	N	0.028313	T	0.20780	0.0500	L	0.55103	1.725	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03807	-1.1002	10	0.87932	D	0	.	4.7363	0.12989	0.314:0.0:0.686:0.0	.	159	Q9H3H9	TCAL2_HUMAN	Y	159	ENSP00000361866:D159Y;ENSP00000332359:D159Y	ENSP00000332359:D159Y	D	+	1	0	TCEAL2	101268933	0.006000	0.16342	0.003000	0.11579	0.874000	0.50279	1.108000	0.31123	0.234000	0.21139	0.594000	0.82650	GAT		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		11	58	1	0	1.33987e-11	0.000673444	5.68037e-11	11	58				
PSG7	5676	broad.mit.edu	37	19	43433722	43433722	+	RNA	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:43433722T>A	ENST00000406070.2	-	0	677				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							295.0	296.0	295.0					19																	43433722		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433722T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433722T>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	670	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		138	254	0	0	0	0.000781405	0	138	254				
ALPK3	57538	broad.mit.edu	37	15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGTGGATGCTGGGACACA	0.547																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2533-2535)Gct>Tct		alpha-kinase 3							163.0	137.0	146.0					15																	85399896		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399896G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2533G>T	15.37:g.85399896G>T	ENSP00000258888:p.Ala845Ser						p.A845S	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2700	+			845					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2533G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	9.651	1.141519	0.21205	.	.	ENSG00000136383	ENST00000258888	T	0.59906	0.23	4.29	2.4	0.29515	.	5.485570	0.00810	N	0.001480	T	0.44829	0.1312	N	0.19112	0.55	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.27706	-1.0066	10	0.22706	T	0.39	-0.2174	8.5396	0.33384	0.1934:0.0:0.8066:0.0	.	845	Q96L96	ALPK3_HUMAN	S	845	ENSP00000258888:A845S	ENSP00000258888:A845S	A	+	1	0	ALPK3	83200900	0.000000	0.05858	0.011000	0.14972	0.093000	0.18481	-0.010000	0.12743	0.391000	0.25143	0.467000	0.42956	GCT		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		9	26	1	0	5.4927e-09	0.000274275	2.27137e-08	9	26				
HIVEP3	59269	broad.mit.edu	37	1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:41978886T>A	ENST00000372583.1	-	8	6891	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGCCTGTGGTTCTCGGGCCG	0.632																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6004-6006)gaA>gaT		human immunodeficiency virus type I enhancer binding protein 3							48.0	57.0	54.0					1																	41978886		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978886T>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6006A>T	1.37:g.41978886T>A	ENSP00000361664:p.Glu2002Asp					HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D	p.E2002D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7020	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2002					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6006A>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587687	0.46110	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06294	3.33;3.32;3.32;3.33	3.79	-5.21	0.02815	.	0.290096	0.24513	N	0.037867	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.33929	-0.9849	10	0.36615	T	0.2	-5.7312	6.3979	0.21622	0.1111:0.6277:0.1117:0.1494	.	2002;2002	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	2002	ENSP00000361665:E2002D;ENSP00000361664:E2002D;ENSP00000247584:E2002D;ENSP00000410828:E2002D	ENSP00000247584:E2002D	E	-	3	2	HIVEP3	41751473	0.000000	0.05858	0.023000	0.16930	0.890000	0.51754	-1.220000	0.02971	-0.808000	0.04387	-0.256000	0.11100	GAA		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		30	44	0	0	0	0.001512	0	30	44				
CD84	8832	broad.mit.edu	37	1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:160520798G>C	ENST00000311224.4	-	6	905	c.839C>G	c.(838-840)aCa>aGa	p.T280R	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.T263R|CD84_ENST00000368051.3_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000534968.1_Missense_Mutation_p.T149R	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(787-789)aCa>aGa		CD84 molecule							235.0	230.0	232.0					1																	160520798		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160520798G>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.839C>G	1.37:g.160520798G>C	ENSP00000312367:p.Thr280Arg					CD84_ENST00000368048.3_Missense_Mutation_p.T274R|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Missense_Mutation_p.T149R|CD84_ENST00000311224.4_Missense_Mutation_p.T280R	p.T263R	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	823	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		280					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.788C>G	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159434	0.21454	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	T;T;T;T	0.60299	2.47;0.25;1.13;0.2	4.2	3.25	0.37280	.	3.509730	0.01238	N	0.008536	T	0.33030	0.0849	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.27351	0.091;0.002;0.176;0.023	B;B;B;B	0.24541	0.027;0.007;0.054;0.027	T	0.16482	-1.0401	10	0.19590	T	0.45	-0.0023	8.5973	0.33723	0.0:0.0:0.7116:0.2884	.	149;280;274;263	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;SLAF5_HUMAN;.;.	R	149;263;274;280	ENSP00000442845:T149R;ENSP00000357033:T263R;ENSP00000357027:T274R;ENSP00000312367:T280R	ENSP00000312367:T280R	T	-	2	0	CD84	158787422	0.004000	0.15560	0.001000	0.08648	0.047000	0.14425	0.933000	0.28897	1.269000	0.44280	0.650000	0.86243	ACA		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		20	318	0	0	0	0.00121646	0	20	318				
RGPD4	285190	broad.mit.edu	37	2	108488441	108488441	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3979-3981)gaA>gaG		RANBP2-like and GRIP domain containing 4							16.0	14.0	14.0					2																	108488441		692	1577	2269	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108488441A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3981A>G	2.37:g.108488441A>G						RGPD4_ENST00000354986.4_Silent_p.E1327E	p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4058	+			1327					B9A029	Silent	SNP	ENST00000408999.3	37	c.3981A>G	CCDS46381.1																																																																																				0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		17	233	0	0	0	0.00278032	0	17	233				
SNHG14	104472715	broad.mit.edu	37	15	25451254	25451254	+	RNA	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25451254C>A	ENST00000424208.1	+	0	2384				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGGAAGACCCCGTGGCTCTG	0.642																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25451254C>A			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.25451254C>A						SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.642	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	17	1	0	7.03913e-09	0.00136819	2.89897e-08	13	17				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	62	0	0	0	0.00116845	0	4	62				
PLG	5340	broad.mit.edu	37	6	161159606	161159606	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1837-1839)tcC>tcT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						152.0	140.0	144.0					6																	161159606		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161159606C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1839C>T	6.37:g.161159606C>T							p.S613S	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	15	1902	+			613			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1839C>T	CCDS5279.1																																																																																				0.403	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	60	0	0	0	0.000814825	0	30	60				
FCN1	2219	broad.mit.edu	37	9	137809628	137809628	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(88-90)gcG>gcA		ficolin (collagen/fibrinogen domain containing) 1							81.0	75.0	77.0					9																	137809628		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809628C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.90G>A	9.37:g.137809628C>T							p.A30A	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	181	-		Myeloproliferative disorder(178;0.0333)	30					Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.90G>A	CCDS6985.1																																																																																				0.572	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		23	42	0	0	0	0.000720815	0	23	42				
SULT1B1	27284	broad.mit.edu	37	4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:70620403C>A	ENST00000310613.3	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(262-264)Gga>Tga		sulfotransferase family, cytosolic, 1B, member 1							90.0	98.0	95.0					4																	70620403		2203	4298	6501	SO:0001587	stop_gained	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620403C>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.262G>T	4.37:g.70620403C>A	ENSP00000308770:p.Gly88*						p.G88*	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			3	559	-			88					O15497|Q96FI1|Q9UK34	Nonsense_Mutation	SNP	ENST00000310613.3	37	c.262G>T	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195585	0.78902	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	.	.	.	4.9	4.06	0.47325	.	0.363413	0.19507	U	0.112618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.1	0.48168	0.0:0.9084:0.0:0.0916	.	.	.	.	X	88;88;69	.	ENSP00000308770:G88X	G	-	1	0	SULT1B1	70654992	0.710000	0.27896	0.582000	0.28627	0.034000	0.12701	2.036000	0.41165	1.217000	0.43442	0.585000	0.79938	GGA		0.299	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		28	70	1	0	9.65021e-13	0.00209593	4.16114e-12	28	70				
RXRG	6258	broad.mit.edu	37	1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(52-54)tCc>tTc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						43.0	39.0	41.0					1																	165398200		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398200G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.53C>T	1.37:g.165398200G>A	ENSP00000352900:p.Ser18Phe						p.S18F	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			2	355	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		18			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.53C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067760	0.55539	.	.	ENSG00000143171	ENST00000359842	D	0.93189	-3.18	4.56	4.56	0.56223	.	0.926309	0.09347	N	0.814646	D	0.87030	0.6076	L	0.27053	0.805	0.41198	D	0.986358	B	0.26258	0.145	B	0.33521	0.165	T	0.80188	-0.1486	9	0.52906	T	0.07	.	16.0757	0.80967	0.0:0.0:1.0:0.0	.	18	P48443	RXRG_HUMAN	F	18	ENSP00000352900:S18F	ENSP00000352900:S18F	S	-	2	0	RXRG	163664824	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.702000	0.84576	2.359000	0.80004	0.561000	0.74099	TCC		0.567	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		18	22	0	0	0	0.00121646	0	18	22				
TSHZ1	10194	broad.mit.edu	37	18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A	rs557571956		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:73000493G>A	ENST00000580243.1	+	2	3479	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	TSHZ1_ENST00000322038.5_Missense_Mutation_p.R999Q			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19559	0.0		0.0	False		,,,				2504	0.0					ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2995-2997)cGg>cAg		teashirt zinc finger homeobox 1							80.0	83.0	82.0					18																	73000493		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000493G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3131G>A	18.37:g.73000493G>A	ENSP00000464391:p.Arg1044Gln					TSHZ1_ENST00000580243.1_Missense_Mutation_p.R1044Q	p.R999Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3580	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	1044					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2996G>A		.	.	.	.	.	.	.	.	.	.	G	14.10	2.435311	0.43224	.	.	ENSG00000179981	ENST00000322038	T	0.42131	0.98	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.49126	1.545	0.41978	D	0.990782	D	0.89917	1.0	D	0.87578	0.998	T	0.66329	-0.5951	10	0.87932	D	0	-38.0559	19.3064	0.94164	0.0:0.0:1.0:0.0	.	1044	Q6ZSZ6	TSH1_HUMAN	Q	999	ENSP00000323584:R999Q	ENSP00000323584:R999Q	R	+	2	0	TSHZ1	71129481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.378000	0.46305	0.655000	0.94253	CGG		0.532	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		24	53	0	0	0	0.000586117	0	24	53				
SIPA1L3	23094	broad.mit.edu	37	19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3679-3681)Cct>Gct		signal-induced proliferation-associated 1 like 3							86.0	79.0	81.0					19																	38652910		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38652910C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3679C>G	19.37:g.38652910C>G	ENSP00000222345:p.Pro1227Ala						p.P1227A	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4188	+			1227					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3679C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310117	0.81358	.	.	ENSG00000105738	ENST00000222345	T	0.54479	0.57	4.62	4.62	0.57501	.	0.064283	0.64402	D	0.000006	T	0.58075	0.2097	M	0.66297	2.02	0.58432	D	0.999992	P	0.47762	0.9	P	0.45794	0.493	T	0.66356	-0.5944	10	0.72032	D	0.01	-22.1853	16.2461	0.82446	0.0:1.0:0.0:0.0	.	1227	O60292	SI1L3_HUMAN	A	1227	ENSP00000222345:P1227A	ENSP00000222345:P1227A	P	+	1	0	SIPA1L3	43344750	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.240000	0.72363	2.117000	0.64856	0.563000	0.77884	CCT		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	51	0	0	0	0.00024832	0	4	51				
ROCK2	9475	broad.mit.edu	37	2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTACCATGCCTGTCTGCATG	0.373																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(727-729)Ggc>Agc		Rho-associated, coiled-coil containing protein kinase 2							186.0	181.0	182.0					2																	11367521		1909	4145	6054	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11367521C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.727G>A	2.37:g.11367521C>T	ENSP00000317985:p.Gly243Ser					ROCK2_ENST00000401753.1_5'UTR	p.G243S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1175	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		243			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.727G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815408	0.90790	.	.	ENSG00000134318	ENST00000315872;ENST00000431087	T;T	0.62788	0.0;1.55	4.95	4.95	0.65309	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	T	0.65144	0.2663	N	0.11106	0.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73452	-0.3978	10	0.66056	D	0.02	.	18.5343	0.91004	0.0:1.0:0.0:0.0	.	243	O75116	ROCK2_HUMAN	S	243;70	ENSP00000317985:G243S;ENSP00000395957:G70S	ENSP00000261535:G243S	G	-	1	0	ROCK2	11284972	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.818000	0.86416	2.444000	0.82710	0.585000	0.79938	GGC		0.373	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			54	130	0	0	0	0.000781405	0	54	130				
FAT1	2195	broad.mit.edu	37	4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4006-4008)tCa>tGa		FAT atypical cadherin 1							85.0	81.0	82.0					4																	187557355		1932	4146	6078	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557355G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4007C>G	4.37:g.187557355G>C	ENSP00000406229:p.Ser1336*	HNSCC(5;0.00058)					p.S1336*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			6	4216	-			1336			Cadherin 11.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4007C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.662106	0.99588	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.55	4.7	0.59300	.	0.197059	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.5615	0.84567	0.0:0.1304:0.8695:0.0	.	.	.	.	X	1336	.	ENSP00000260147:S1336X	S	-	2	0	FAT1	187794349	1.000000	0.71417	0.949000	0.38748	0.954000	0.61252	7.418000	0.80167	1.549000	0.49425	0.655000	0.94253	TCA		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	36	0	0	0	0.00121646	0	15	36				
SLC8A3	6547	broad.mit.edu	37	14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(238-240)Tat>Cat		solute carrier family 8 (sodium/calcium exchanger), member 3							77.0	68.0	71.0					14																	70634902		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634902A>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.238T>C	14.37:g.70634902A>G	ENSP00000370669:p.Tyr80His					SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H	p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	991	-			80					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.238T>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072765	0.55646	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.60424	0.26;0.19;0.33;0.27;0.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.998	D;D;D;D	0.85130	0.997;0.997;0.979;0.986	T	0.81675	-0.0825	10	0.87932	D	0	.	14.8144	0.70020	1.0:0.0:0.0:0.0	.	80;80;80;80	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	80	ENSP00000349392:Y80H;ENSP00000370669:Y80H;ENSP00000350560:Y80H;ENSP00000436688:Y80H;ENSP00000433531:Y80H	ENSP00000349392:Y80H	Y	-	1	0	SLC8A3	69704655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.085000	0.62840	0.533000	0.62120	TAT		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	24	0	0	0	0.00136819	0	12	24				
LIX1	167410	broad.mit.edu	37	5	96478236	96478236	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(43-45)gtC>gtT		Lix1 homolog (chicken)							186.0	156.0	166.0					5																	96478236		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96478236G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.45C>T	5.37:g.96478236G>A						CTD-2215E18.1_ENST00000509481.1_Intron	p.V15V	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	1	340	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	15					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.45C>T	CCDS4088.1																																																																																				0.453	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		6	55	0	0	0	0.000157383	0	6	55				
PCDHA13	56136	broad.mit.edu	37	5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	rs144000682		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	358	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(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1072-1074)cCc>cTc									103.0	104.0	104.0					5																	140262926		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140262926C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1073C>T	5.37:g.140262926C>T	ENSP00000289272:p.Pro358Leu					PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P358L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1073	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1073C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412478	0.62511	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.72	5.44	4.55	0.56014	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70945	0.3282	M	0.85462	2.755	0.46631	D	0.999136	D;D;D	0.71674	0.998;0.989;0.997	D;D;D	0.70016	0.967;0.948;0.936	T	0.77104	-0.2711	9	0.87932	D	0	.	14.9423	0.71003	0.1444:0.8556:0.0:0.0	.	358;358;358	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	358	ENSP00000386821:P358L;ENSP00000289272:P358L	ENSP00000289272:P358L	P	+	2	0	PCDHA13	140243110	0.062000	0.20869	0.027000	0.17364	0.962000	0.63368	2.093000	0.41710	1.231000	0.43661	0.561000	0.74099	CCC		0.488	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		23	57	0	0	0	0.00278032	0	23	57				
TMCC2	9911	broad.mit.edu	37	1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1021-1023)Cag>Tag		transmembrane and coiled-coil domain family 2							58.0	47.0	51.0					1																	205238351		2203	4300	6503	SO:0001587	stop_gained	9911					integral to membrane	protein binding	g.chr1:205238351C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1021C>T	1.37:g.205238351C>T	ENSP00000350718:p.Gln341*					TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000495538.1_3'UTR	p.Q341*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1410	+	Breast(84;0.0871)		341					A2RRH3|B7Z1P7|Q6ZN09	Nonsense_Mutation	SNP	ENST00000358024.3	37	c.1021C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828854	0.96996	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3957	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	341;263;145;116;101	.	ENSP00000329436:Q101X	Q	+	1	0	TMCC2	203504974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.687000	0.91594	0.462000	0.41574	CAG		0.592	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		4	45	0	0	0	0.00024832	0	4	45				
ANKRD20A8P	729171	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	G	A	rs575260943		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:95513821G>A	ENST00000432432.2	-	0	790				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGTCTTGAGCGAAGACATCAA	0.353													.|||	1	0.000199681	0.0	0.0014	5008	,	,		25134	0.0		0.0	False		,,,				2504	0.0					ENST00000432432.2																			0																																																			729171							g.chr2:95513821G>A			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.95513821G>A								NR_040113.1						0	790	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.353	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			43	705	0	0	0	0.0025221	0	43	705				
NRP2	8828	broad.mit.edu	37	2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:206590770G>T	ENST00000357785.5	+	6	985	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000360409.3_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(952-954)tgG>tgT		neuropilin 2							118.0	101.0	106.0					2																	206590770		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590770G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.954G>T	2.37:g.206590770G>T	ENSP00000350432:p.Trp318Cys					NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C|NRP2_ENST00000357785.5_Missense_Mutation_p.W318C|NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C	p.W318C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1745	+			318			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.954G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781011	0.90282	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.8	5.8	0.92144	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.99404	4.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.996;0.982;0.996;0.996;0.96	D	0.96197	0.9142	10	0.62326	D	0.03	-15.6795	20.063	0.97692	0.0:0.0:1.0:0.0	.	318;318;318;318;318;318	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	318	ENSP00000353582:W318C;ENSP00000439658:W318C;ENSP00000439261:W318C;ENSP00000347238:W318C;ENSP00000387519:W318C;ENSP00000349632:W318C;ENSP00000350432:W318C;ENSP00000407626:W318C;ENSP00000272849:W318C	ENSP00000272849:W318C	W	+	3	0	NRP2	206299015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	TGG		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			15	40	1	0	1.52009e-12	0.000308642	6.49903e-12	15	40				
SI	6476	broad.mit.edu	37	3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTTCTCTGGCCCACCACTC	0.383										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4123-4125)gCc>gAc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						90.0	91.0	91.0					3																	164727122		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727122G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4124C>A	3.37:g.164727122G>T	ENSP00000264382:p.Ala1375Asp	HNSCC(35;0.089)					p.A1375D	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			35	4186	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1375			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4124C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266393	0.01433	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	4.51	1.52	0.23074	Glycoside hydrolase, superfamily (1);	1.351880	0.04409	N	0.365652	D	0.90242	0.6949	M	0.69823	2.125	0.09310	N	1	B	0.27229	0.172	B	0.33121	0.158	T	0.73304	-0.4025	10	0.30854	T	0.27	.	8.1246	0.30990	0.0827:0.0:0.2687:0.6486	.	1375	P14410	SUIS_HUMAN	D	1375	ENSP00000264382:A1375D	ENSP00000264382:A1375D	A	-	2	0	SI	166209816	0.000000	0.05858	0.013000	0.15412	0.059000	0.15707	0.128000	0.15810	0.097000	0.17492	-0.500000	0.04577	GCC		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	57	1	0	1.45105e-14	0.00074312	6.31082e-14	18	57				
NSA2	10412	broad.mit.edu	37	5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000296805.3_5'Flank|NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(40-42)Tat>Aat		NSA2 ribosome biogenesis homolog (S. cerevisiae)							34.0	35.0	35.0					5																	74064792		2202	4299	6501	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74064792T>A	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.40T>A	5.37:g.74064792T>A	ENSP00000296802:p.Tyr14Asn					NSA2_ENST00000513356.1_3'UTR	p.Y14N	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			2	409	+			14						Missense_Mutation	SNP	ENST00000296802.5	37	c.40T>A	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504354	0.64410	.	.	ENSG00000164346	ENST00000296802	T	0.29655	1.56	5.74	4.58	0.56647	.	0.054504	0.85682	D	0.000000	T	0.34077	0.0885	L	0.60455	1.87	0.80722	D	1	B	0.26845	0.161	B	0.33339	0.162	T	0.14952	-1.0454	10	0.59425	D	0.04	.	11.9243	0.52810	0.0:0.0679:0.0:0.9321	.	14	O95478	NSA2_HUMAN	N	14	ENSP00000296802:Y14N	ENSP00000296802:Y14N	Y	+	1	0	NSA2	74100548	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.585000	0.53943	1.128000	0.42052	-0.256000	0.11100	TAT		0.328	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		5	9	0	0	0	0.00198382	0	5	9				
ZNF385D	79750	broad.mit.edu	37	3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(109-111)Ctt>Att		zinc finger protein 385D							110.0	104.0	106.0					3																	21706434		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706434G>T	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.109C>A	3.37:g.21706434G>T	ENSP00000281523:p.Leu37Ile					ZNF385D_ENST00000494118.1_Intron	p.L37I	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			2	627	-			37						Missense_Mutation	SNP	ENST00000281523.2	37	c.109C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698089	0.88830	.	.	ENSG00000151789	ENST00000281523	T	0.45276	0.9	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.41492	1.28	0.33113	D	0.540818	P	0.46578	0.88	P	0.62184	0.899	T	0.64702	-0.6345	10	0.62326	D	0.03	0.2105	18.4189	0.90582	0.0:0.0:1.0:0.0	.	37	Q9H6B1	Z385D_HUMAN	I	37	ENSP00000281523:L37I	ENSP00000281523:L37I	L	-	1	0	ZNF385D	21681438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.114000	0.77103	2.604000	0.88044	0.591000	0.81541	CTT		0.512	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	23	1	0	2.74318e-10	0.000442599	1.14375e-09	10	23				
MYPN	84665	broad.mit.edu	37	10	69925475	69925475	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000354393.2_Silent_p.L225L|MYPN_ENST00000540630.1_Silent_p.L500L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.				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						TTTGCACCTTGGTCATTGCTG	0.413																																						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.(1498-1500)ttG>ttA		myopalladin							135.0	115.0	122.0					10																	69925475		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69925475G>A	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.1500G>A	10.37:g.69925475G>A						MYPN_ENST00000540630.1_Silent_p.L500L|MYPN_ENST00000354393.2_Silent_p.L225L	p.L500L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			9	1988	+			500			Ig-like 2.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.1500G>A	CCDS7275.1																																																																																				0.413	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	44	0	0	0	0.00198382	0	5	44				
BRCA1	672	broad.mit.edu	37	17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	rs70953661|rs80357833		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:41222997C>A	ENST00000357654.3	-	15	5052	c.4934G>T	c.(4933-4935)aGg>aTg	p.R1645M	BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1349M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(4045-4047)aGg>aTg	Homologous recombination	breast cancer 1, early onset							182.0	153.0	162.0					17																	41222997		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41222997C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4934G>T	17.37:g.41222997C>A	ENSP00000350283:p.Arg1645Met	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M	p.R1349M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	5073	-		Breast(137;0.000717)	1645					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4046G>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368557	0.61624	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	4.6	0.213	0.15244	BRCT (3);	1.089510	0.06997	N	0.822710	D	0.87740	0.6253	L	0.59436	1.845	0.09310	N	1	D;P;D;P;D;D;B;D	0.61697	0.983;0.956;0.97;0.955;0.97;0.983;0.051;0.99	P;B;B;P;B;P;B;P	0.53313	0.533;0.436;0.343;0.548;0.436;0.533;0.01;0.723	T	0.75190	-0.3405	10	0.87932	D	0	.	5.1554	0.15032	0.0:0.4905:0.3248:0.1847	.	541;494;540;542;541;1667;1645;1645	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	M	1645;1666;503;462;1349;541;494;1667;1598;540;541;416;495	ENSP00000350283:R1645M;ENSP00000312236:R503M;ENSP00000338007:R462M;ENSP00000310938:R1349M;ENSP00000417148:R541M;ENSP00000377294:R494M;ENSP00000418775:R1598M;ENSP00000420412:R541M;ENSP00000419481:R416M;ENSP00000418819:R495M	ENSP00000310938:R1349M	R	-	2	0	BRCA1	38476523	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.344000	0.07780	0.011000	0.14865	0.655000	0.94253	AGG		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		59	64	1	0	3.00063e-23	0.000781405	1.3762e-22	59	64				
GRB10	2887	broad.mit.edu	37	7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:50682481C>A	ENST00000401949.1	-	12	1550	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000403097.1_Missense_Mutation_p.G355W|GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1063-1065)Ggg>Tgg		growth factor receptor-bound protein 10							136.0	145.0	142.0					7																	50682481		2116	4223	6339	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50682481C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1081G>T	7.37:g.50682481C>A	ENSP00000385770:p.Gly361Trp					GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000401949.1_Missense_Mutation_p.G361W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W	p.G355W			Q13322	GRB10_HUMAN			11	1843	-	Glioma(55;0.08)|all_neural(89;0.245)		361			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1063G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179514	0.78564	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;2.23;-0.97;-0.97;-0.97	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.207952	0.51477	D	0.000095	D	0.87442	0.6178	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.88524	0.3098	10	0.66056	D	0.02	-29.3453	19.1837	0.93633	0.0:1.0:0.0:0.0	.	355;315;361	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	W	361;355;303;303;303;355;303;315;303;361;303	ENSP00000381793:G361W;ENSP00000406716:G355W;ENSP00000338543:G303W;ENSP00000381790:G303W;ENSP00000385189:G303W;ENSP00000385544:G355W;ENSP00000385366:G303W;ENSP00000349818:G315W;ENSP00000385046:G303W;ENSP00000385770:G361W;ENSP00000385748:G303W	ENSP00000338543:G303W	G	-	1	0	GRB10	50649975	1.000000	0.71417	0.971000	0.41717	0.870000	0.49936	4.917000	0.63369	2.523000	0.85059	0.655000	0.94253	GGG		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			31	68	1	0	8.16721e-17	0.00209593	3.59856e-16	31	68				
TEK	7010	broad.mit.edu	37	9	27218815	27218815	+	Splice_Site	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103G>T	c.(3103-3105)Gga>Tga	p.G1035*	TEK_ENST00000406359.4_Splice_Site_p.G992*|TEK_ENST00000519097.1_Splice_Site_p.G887*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGTTAGCTTAGGTGAGTATCT	0.463																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.e20+1		TEK tyrosine kinase, endothelial							269.0	216.0	234.0					9																	27218815		2203	4300	6503	SO:0001630	splice_region_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27218815G>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3103+1G>T	9.37:g.27218815G>T						TEK_ENST00000406359.4_Splice_Site_p.G992_splice|TEK_ENST00000519097.1_Splice_Site_p.G887_splice	p.G1035_splice	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	20	3545	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1035			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Splice_Site	SNP	ENST00000380036.4	37	c.3103_splice	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	g	42	9.606793	0.99217	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	.	.	.	4.76	4.76	0.60689	.	0.000000	0.46442	U	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.148	0.89663	0.0:0.0:1.0:0.0	.	.	.	.	X	887;1035;992	.	ENSP00000369375:G1035X	G	+	1	0	TEK	27208815	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.997000	0.93544	2.366000	0.80165	0.424000	0.28305	GGA		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		Nonsense_Mutation	13	32	1	0	6.72482e-11	0.000308642	2.8155e-10	13	32				
GABRA6	2559	broad.mit.edu	37	5	161128536	161128536	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:161128536G>A	ENST00000274545.5	+	9	1552	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	GABRA6_ENST00000523217.1_Silent_p.R363R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGAAAAGGATCACTTCTC	0.398										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1087-1089)agG>agA		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						107.0	112.0	110.0					5																	161128536		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128536G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1119G>A	5.37:g.161128536G>A		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.R373R	p.R363R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1331	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	373					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1089G>A	CCDS4356.1																																																																																				0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			22	62	0	0	0	0.00047179	0	22	62				
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region (GO:0005576)		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507																																						ENST00000382114.4																			1	Substitution - Missense(1)	p.R267W(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(799-801)Cgg>Tgg		leucine-rich repeat LGI family, member 2							164.0	135.0	145.0					4																	25013978		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25013978G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.799C>T	4.37:g.25013978G>A	ENSP00000371548:p.Arg267Trp						p.R267W	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			7	984	-		Breast(46;0.173)	267					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.799C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146207	0.77888	.	.	ENSG00000153012	ENST00000382114	D	0.82167	-1.58	4.81	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88822	0.3299	10	0.87932	D	0	-15.222	10.3291	0.43812	0.0:0.0:0.5597:0.4403	.	267	Q8N0V4	LGI2_HUMAN	W	267	ENSP00000371548:R267W	ENSP00000371548:R267W	R	-	1	2	LGI2	24623076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.516000	0.60496	2.373000	0.80994	0.555000	0.69702	CGG		0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	103	0	0	0	0.000274275	0	7	103				
TMEM132B	114795	broad.mit.edu	37	12	126138424	126138424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138424A>G	ENST00000299308.3	+	9	2413	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCAATGATATTGAGGGC	0.478																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2404-2406)gAt>gGt		transmembrane protein 132B							80.0	80.0	80.0					12																	126138424		2067	4209	6276	SO:0001583	missense	114795					integral to membrane		g.chr12:126138424A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2405A>G	12.37:g.126138424A>G	ENSP00000299308:p.Asp802Gly					TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	p.D802G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		802					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2405A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938773	0.34189	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.18502	2.21;2.21	5.54	5.54	0.83059	.	2.820060	0.00980	N	0.003370	T	0.33059	0.0850	N	0.20483	0.58	0.54753	D	0.999988	D	0.76494	0.999	D	0.65443	0.935	T	0.02020	-1.1228	10	0.34782	T	0.22	.	15.6907	0.77450	1.0:0.0:0.0:0.0	.	802	Q14DG7	T132B_HUMAN	G	802;314	ENSP00000299308:D802G;ENSP00000440436:D314G	ENSP00000299308:D802G	D	+	2	0	TMEM132B	124704377	1.000000	0.71417	0.118000	0.21660	0.083000	0.17756	6.815000	0.75242	2.103000	0.63969	0.533000	0.62120	GAT		0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		6	58	0	0	0	0.00116845	0	6	58				
EIF3M	10480	broad.mit.edu	37	11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(598-600)Gct>Tct		eukaryotic translation initiation factor 3, subunit M							123.0	109.0	114.0					11																	32615476		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615476G>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.598G>T	11.37:g.32615476G>T	ENSP00000436049:p.Ala200Ser					EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	p.A200S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			6	661	+	Breast(20;0.109)		200						Missense_Mutation	SNP	ENST00000531120.1	37	c.598G>T	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778763	0.90195	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T	0.55052	1.07;0.54;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.73598	2.24	0.80722	D	1	P;P	0.51449	0.945;0.734	P;B	0.51101	0.659;0.196	T	0.64605	-0.6368	10	0.41790	T	0.15	-24.1495	20.6439	0.99570	0.0:0.0:1.0:0.0	.	68;200	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	S	200;68;137;41	ENSP00000436049:A200S;ENSP00000436787:A68S;ENSP00000432139:A41S	ENSP00000319910:A137S	A	+	1	0	EIF3M	32572052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GCT		0.393	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		13	25	1	0	0.000219431	0.00244969	0.000832354	13	25				
CADM1	23705	broad.mit.edu	37	11	115102137	115102137	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:115102137G>A	ENST00000452722.3	-	4	518	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000542447.2_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(496-498)tgC>tgT		cell adhesion molecule 1							271.0	224.0	240.0					11																	115102137		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102137G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.498C>T	11.37:g.115102137G>A						CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000452722.2_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR	p.C166C	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	626	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	166			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.498C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.513715|1.513715	0.27123|0.27123	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000545380	.|.	.|.	.|.	6.17|6.17	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	T|T	0.63873|0.63873	0.2548|0.2548	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62765|0.62765	-0.6785|-0.6785	4|4	.|.	.|.	.|.	.|.	11.9982|11.9982	0.53216|0.53216	0.1336:0.0:0.8664:0.0|0.1336:0.0:0.8664:0.0	.|.	.|.	.|.	.|.	V|Y	150|165	.|.	.|.	A|H	-|-	2|1	0|0	CADM1|CADM1	114607347|114607347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.621000|4.621000	0.61233|0.61233	1.596000|1.596000	0.50062|0.50062	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.458	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		29	56	0	0	0	0.001512	0	29	56				
CES2	8824	broad.mit.edu	37	16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	AGTTTCTTTGGGGGCAACTAC	0.527																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1600-1602)gGg>gAg		carboxylesterase 2							97.0	95.0	96.0					16																	66976677		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976677G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1601G>A	16.37:g.66976677G>A	ENSP00000317842:p.Gly534Glu					RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	p.G534E	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	10	2585	+		Ovarian(137;0.0563)	470					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1601G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055085	0.19907	.	.	ENSG00000172831	ENST00000317091	T	0.58506	0.33	4.7	0.211	0.15236	Carboxylesterase, type B (1);	1.472120	0.04642	N	0.405577	T	0.41994	0.1183	N	0.16098	0.37	0.09310	N	1	B	0.16603	0.018	B	0.32022	0.139	T	0.41698	-0.9494	10	0.59425	D	0.04	.	2.6229	0.04921	0.1431:0.1424:0.5456:0.1689	.	470	O00748	EST2_HUMAN	E	534	ENSP00000317842:G534E	ENSP00000317842:G534E	G	+	2	0	CES2	65534178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.401000	0.20948	-0.010000	0.14271	0.650000	0.86243	GGG		0.527	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		8	47	0	0	0	0.000274275	0	8	47				
SLC8A3	6547	broad.mit.edu	37	14	70633784	70633784	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1354-1356)acG>acT		solute carrier family 8 (sodium/calcium exchanger), member 3							159.0	153.0	155.0					14																	70633784		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633784C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1356G>T	14.37:g.70633784C>A						SLC8A3_ENST00000356921.2_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T	p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2109	-			452			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1356G>T	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			45	106	1	0	1.7489e-18	0.00285205	7.87788e-18	45	106				
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			1	Substitution - Missense(1)	p.D161N(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(481-483)Gat>Tat		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							67.0	64.0	65.0					6																	96651512		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651512G>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.481G>T	6.37:g.96651512G>T	ENSP00000302599:p.Asp161Tyr						p.D161Y	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	807	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	161					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.481G>T	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298455	0.60195	.	.	ENSG00000172461	ENST00000302103	T	0.36520	1.25	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.82222	-0.0564	10	0.87932	D	0	-18.3626	18.3049	0.90177	0.0:0.0:1.0:0.0	.	161	Q9Y231	FUT9_HUMAN	Y	161	ENSP00000302599:D161Y	ENSP00000302599:D161Y	D	+	1	0	FUT9	96758233	1.000000	0.71417	0.965000	0.40720	0.772000	0.43724	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	GAT		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		19	35	1	0	1.1804e-14	0.000586117	5.15593e-14	19	35				
ZNF608	57507	broad.mit.edu	37	5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3034-3036)gGg>gTg		zinc finger protein 608							169.0	166.0	167.0					5																	123983042		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983042C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3035G>T	5.37:g.123983042C>A	ENSP00000307746:p.Gly1012Val					ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	p.G1012V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3470	-		all_cancers(142;0.186)|Prostate(80;0.081)	1012					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3035G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.626015	0.28889	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.51325	0.72;0.71	6.05	5.17	0.71159	.	0.163089	0.56097	D	0.000036	T	0.50990	0.1648	L	0.54323	1.7	0.80722	D	1	P	0.45827	0.867	P	0.44897	0.463	T	0.54702	-0.8254	10	0.54805	T	0.06	-10.4899	17.2948	0.87168	0.0:0.8746:0.1254:0.0	.	1012	Q9ULD9	ZN608_HUMAN	V	585;1012	ENSP00000427657:G585V;ENSP00000307746:G1012V	ENSP00000307746:G1012V	G	-	2	0	ZNF608	124010941	0.984000	0.35163	0.106000	0.21319	0.036000	0.12997	2.499000	0.45372	1.529000	0.49120	0.643000	0.83706	GGG		0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		46	94	1	0	8.20599e-20	0.00285205	3.74653e-19	46	94				
CASK	8573	broad.mit.edu	37	X	41390289	41390289	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:41390289G>A	ENST00000378163.1	-	25	2965	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L	CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000421587.2_Silent_p.L802L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000318588.9_Silent_p.L826L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000378166.4_Silent_p.L826L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2476-2478)Ctg>Ttg		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							200.0	130.0	153.0					X																	41390289		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41390289G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2491C>T	X.37:g.41390289G>A						CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000378163.1_Silent_p.L831L|CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000421587.2_Silent_p.L802L	p.L826L			O14936	CSKP_HUMAN			25	2521	-			831			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.2476C>T																																																																																					0.512	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		28	12	0	0	0	0.000878237	0	28	12				
FAR2	55711	broad.mit.edu	37	12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:29469874G>A	ENST00000536681.3	+	9	1302	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*|FAR2_ENST00000182377.4_Nonsense_Mutation_p.W352*	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1054-1056)tgG>tgA		fatty acyl CoA reductase 2							142.0	148.0	146.0					12																	29469874		2203	4300	6503	SO:0001587	stop_gained	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469874G>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1056G>A	12.37:g.29469874G>A	ENSP00000443291:p.Trp352*					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Nonsense_Mutation_p.W352*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*	p.W352*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			9	1324	+			352					F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	ENST00000536681.3	37	c.1056G>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694838	0.98438	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.44	4.44	0.53790	.	0.072254	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-20.8712	14.6326	0.68666	0.0:0.0:1.0:0.0	.	.	.	.	X	352;352;255	.	ENSP00000182377:W352X	W	+	3	0	FAR2	29361141	1.000000	0.71417	0.981000	0.43875	0.833000	0.47200	7.141000	0.77330	2.301000	0.77427	0.467000	0.42956	TGG		0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		17	215	0	0	0	0.00121646	0	17	215				
LYST	1130	broad.mit.edu	37	1	235904812	235904812	+	Silent	SNP	G	G	A	rs141534829		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.0					ENST00000389794.3																			1	Substitution - coding silent(1)	p.H2756H(1)	kidney(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(8266-8268)caC>caT		lysosomal trafficking regulator		G		6,4400	11.4+/-27.6	0,6,2197	176.0	154.0	162.0		8268	3.8	1.0	1	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538		2756/3802	235904812	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235904812G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8268C>T	1.37:g.235904812G>A						LYST_ENST00000389793.2_Silent_p.H2756H	p.H2756H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		31	8442	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2756					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.8268C>T	CCDS31062.1																																																																																				0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	94	0	0	0	0.00116845	0	6	94				
MLLT10	8028	broad.mit.edu	37	10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T	rs368104484		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:22021981C>T	ENST00000307729.7	+	18	2550	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377072.3_Missense_Mutation_p.P807L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	791					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Substitution - Missense(1)	p.P807L(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2419-2421)cCg>cTg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	103.0	98.0	100.0		2372,2420	6.0	1.0	10		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLLT10	NM_001195626.1,NM_004641.3	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	791/1069,807/1028	22021981	1,13005	2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021981C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2372C>T	10.37:g.22021981C>T	ENSP00000307411:p.Pro791Leu					MLLT10_ENST00000307729.7_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L	p.P807L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			19	2768	+			807					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2420C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341277	0.81911	0.0	1.16E-4	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15372	2.44;2.45;2.43;2.45	6.01	6.01	0.97437	.	0.422646	0.28940	N	0.013659	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.76494	0.999;0.998;0.897;0.998	P;P;B;P	0.62560	0.904;0.608;0.148;0.608	T	0.00726	-1.1592	10	0.62326	D	0.03	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	486;791;791;807	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	807;791;791;626;791	ENSP00000366272:P807L;ENSP00000401406:P791L;ENSP00000307411:P791L;ENSP00000366258:P791L	ENSP00000307411:P791L	P	+	2	0	MLLT10	22061987	0.781000	0.28676	0.953000	0.39169	0.997000	0.91878	2.107000	0.41844	2.860000	0.98153	0.655000	0.94253	CCG		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			7	67	0	0	0	0.000157383	0	7	67				
SMARCA2	6595	broad.mit.edu	37	9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1996-1998)agC>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							135.0	137.0	137.0					9																	2076291		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2076291C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1998C>A	9.37:g.2076291C>A	ENSP00000371638:p.Ser666Arg					SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R	p.S666R			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	13	2207	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	666					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1998C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.933688	0.52866	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.92	-3.27	0.05048	.	0.172784	0.50627	D	0.000119	T	0.81044	0.4741	L	0.43923	1.385	0.80722	D	1	B;P;B	0.36789	0.338;0.57;0.435	B;B;B	0.37943	0.075;0.261;0.174	T	0.68625	-0.5359	10	0.42905	T	0.14	-19.3867	14.4807	0.67579	0.0:0.4044:0.0:0.5956	.	267;666;666	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	R	666	ENSP00000265773:S666R;ENSP00000349788:S666R;ENSP00000371638:S666R;ENSP00000371629:S666R	ENSP00000265773:S666R	S	+	3	2	SMARCA2	2066291	0.510000	0.26171	0.719000	0.30619	0.637000	0.38172	-0.435000	0.06931	-1.839000	0.01186	-2.755000	0.00123	AGC		0.388	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		27	51	1	0	1.88708e-17	0.001512	8.35117e-17	27	51				
KIAA1244	57221	broad.mit.edu	37	6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T	rs557172571	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		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)		GCTGCAAGCCGCCATAAAGTA	0.453																																						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.(658-660)Gcc>Tcc		KIAA1244							127.0	102.0	110.0					6																	138566721		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138566721G>T	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.658G>T	6.37:g.138566721G>T	ENSP00000251691:p.Ala220Ser						p.A220S	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	8	824	+	Breast(32;0.135)		220						Missense_Mutation	SNP	ENST00000251691.4	37	c.658G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	5.45	1.31	0.21738	.	1.029290	0.07692	N	0.938911	T	0.03739	0.0106	L	0.29908	0.895	0.26978	N	0.965421	B	0.02656	0.0	B	0.04013	0.001	T	0.46638	-0.9177	10	0.20046	T	0.44	-18.4502	8.948	0.35771	0.0718:0.0:0.4451:0.4831	.	220	Q5TH69	BIG3_HUMAN	S	220	ENSP00000251691:A220S	ENSP00000251691:A220S	A	+	1	0	KIAA1244	138608414	0.987000	0.35691	0.990000	0.47175	0.980000	0.70556	1.723000	0.38053	-0.065000	0.13021	0.655000	0.94253	GCC		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	14	1	0	1.23904e-05	0.000602214	4.86456e-05	5	14				
MAN2A2	4122	broad.mit.edu	37	15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:91455444A>C	ENST00000559717.1	+	15	2740	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.S761R			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2281-2283)Agc>Cgc		mannosidase, alpha, class 2A, member 2							91.0	87.0	88.0					15																	91455444		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455444A>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2281A>C	15.37:g.91455444A>C	ENSP00000452948:p.Ser761Arg					MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.S761R	p.S761R	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2299	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		761					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2281A>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	5.702	0.314075	0.10789	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83335	-1.71;-1.71	5.19	1.67	0.24075	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.584363	0.20394	N	0.093193	T	0.72120	0.3421	L	0.42245	1.32	0.19300	N	0.999978	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.19666	0.026;0.004;0.016	T	0.54186	-0.8331	10	0.19147	T	0.46	-4.7035	6.3158	0.21190	0.5602:0.0:0.4398:0.0	.	269;389;761	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	R	761;269	ENSP00000353655:S761R;ENSP00000388221:S269R	ENSP00000353655:S761R	S	+	1	0	MAN2A2	89256448	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.040000	0.13905	0.327000	0.23409	0.374000	0.22700	AGC		0.637	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		30	66	0	0	0	0.00127121	0	30	66				
ING2	3622	broad.mit.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		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)		AGGGGAAATGGTATTGCCCAA	0.388																																						ENST00000302327.3																			1	Substitution - Missense(1)	p.W253C(1)	ovary(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(757-759)tgG>tgC		inhibitor of growth family, member 2							82.0	79.0	80.0					4																	184432021		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184432021G>C	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.759G>C	4.37:g.184432021G>C	ENSP00000307183:p.Trp253Cys					ING2_ENST00000434682.2_Missense_Mutation_p.W213C	p.W253C	NM_001564.2	NP_001555.1	Q9H160	ING2_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)	2	961	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	253					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.759G>C	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162239	0.57368	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.92348	-3.02;-3.02	5.45	5.45	0.79879	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.160978	0.64402	D	0.000020	D	0.98333	0.9447	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99285	1.0897	10	0.87932	D	0	-15.2284	19.4782	0.94998	0.0:0.0:1.0:0.0	.	213;253	B6ZDS1;Q9H160	.;ING2_HUMAN	C	253;213	ENSP00000307183:W253C;ENSP00000412586:W213C	ENSP00000307183:W253C	W	+	3	0	ING2	184669015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.838000	0.97847	0.655000	0.94253	TGG		0.388	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		4	30	0	0	0	0.00024832	0	4	30				
SNAPC2	6618	broad.mit.edu	37	19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR|CTD-3193O13.1_ENST00000564226.1_RNA	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					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						TGGCCTTCAGGGACCAAGGCG	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(262-264)Gga>Aga		small nuclear RNA activating complex, polypeptide 2, 45kDa							38.0	45.0	42.0					19																	7986386		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986386G>A	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.262G>A	19.37:g.7986386G>A	ENSP00000221573:p.Gly88Arg					SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	p.G88R	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			2	313	+			88					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.262G>A	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905032	0.33628	.	.	ENSG00000104976	ENST00000221573	T	0.62498	0.02	4.13	3.09	0.35607	.	0.419319	0.17830	N	0.160567	T	0.73001	0.3531	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60546	-0.7242	10	0.54805	T	0.06	-7.7335	7.6858	0.28540	0.1173:0.0:0.8827:0.0	.	88	Q13487	SNPC2_HUMAN	R	88	ENSP00000221573:G88R	ENSP00000221573:G88R	G	+	1	0	SNAPC2	7892386	0.078000	0.21339	0.017000	0.16124	0.020000	0.10135	2.014000	0.40951	0.943000	0.37553	-0.265000	0.10407	GGA		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		21	36	0	0	0	0.00152264	0	21	36				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																100216544							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	25	0	0	0	0.000602214	0	4	25				
PPFIA4	8497	broad.mit.edu	37	1	203008176	203008176	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:203008176C>T	ENST00000447715.2	+	6	481	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000367240.2_Silent_p.L14L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	14					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGGGGACCGCCTGGGTCCCCC	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(40-42)Ctg>Ttg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							9.0	9.0	9.0					1																	203008176		871	1978	2849	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203008176C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.40C>T	1.37:g.203008176C>T			OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133	PPFIA4_ENST00000447715.2_Silent_p.L14L|PPFIA4_ENST00000295706.4_5'UTR	p.L14L			O75335	LIPA4_HUMAN			2	567	+			0					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.40C>T																																																																																					0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	11	0	0	0	0.00024832	0	3	11				
EPS8L2	64787	broad.mit.edu	37	11	720677	720677	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000530636.1_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.L136L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(406-408)ctG>ctA		EPS8-like 2							22.0	21.0	21.0					11																	720677		2194	4294	6488	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720677G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.408G>A	11.37:g.720677G>A						EPS8L2_ENST00000318562.8_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000530636.1_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA	p.L136L			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	783	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	136			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.408G>A	CCDS31328.1																																																																																				0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	7	0	0	0	0.00116845	0	5	7				
NECAB3	63941	broad.mit.edu	37	20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(706-708)Gac>Aac		N-terminal EF-hand calcium binding protein 3							11.0	14.0	13.0					20																	32247476		1957	4145	6102	SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247476C>T	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.706G>A	20.37:g.32247476C>T	ENSP00000246190:p.Asp236Asn					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	761	-			236					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.706G>A	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851982	0.71719	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.34072	1.86;1.82;1.38	5.1	4.15	0.48705	.	0.119112	0.56097	N	0.000036	T	0.58750	0.2144	M	0.78456	2.415	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.61734	-0.7002	10	0.59425	D	0.04	-9.7304	11.28	0.49188	0.0:0.91:0.0:0.09	.	113;236;236	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	N	236	ENSP00000364386:D236N;ENSP00000246190:D236N;ENSP00000392064:D236N	ENSP00000246190:D236N	D	-	1	0	NECAB3	31711137	0.992000	0.36948	0.938000	0.37757	0.680000	0.39746	3.106000	0.50322	1.138000	0.42230	0.462000	0.41574	GAC		0.706	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			4	9	0	0	0	0.00024832	0	4	9				
CCER1	196477	broad.mit.edu	37	12	91348312	91348312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:91348312G>T	ENST00000358859.2	-	1	641	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	70																	GGGCCGTGCTGTTGCTTCGGC	0.642																																						ENST00000358859.2																			0											c.(208-210)Cag>Aag		coiled-coil glutamate-rich protein 1							39.0	42.0	41.0					12																	91348312		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348312G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.208C>A	12.37:g.91348312G>T	ENSP00000351727:p.Gln70Lys					CCER1_ENST00000548187.1_Intron	p.Q70K	NM_152638.2	NP_689851.1					1	641	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.208C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116720	0.20795	.	.	ENSG00000197651	ENST00000358859	T	0.39056	1.1	4.87	3.99	0.46301	.	0.518959	0.14548	N	0.312849	T	0.39545	0.1082	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	P	0.50970	0.655	T	0.12889	-1.0530	10	0.40728	T	0.16	-11.9055	10.5873	0.45290	0.0:0.0:0.8079:0.1921	.	70	Q8TC90	CL012_HUMAN	K	70	ENSP00000351727:Q70K	ENSP00000351727:Q70K	Q	-	1	0	C12orf12	89872443	0.002000	0.14202	0.005000	0.12908	0.023000	0.10783	0.807000	0.27140	1.295000	0.44724	-0.372000	0.07161	CAG		0.642	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	16	1	0	1.08611e-07	0.000978159	4.38353e-07	12	16				
SDK1	221935	broad.mit.edu	37	7	4185403	4185403	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8. {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)		ACACCTTCACCACCGTGGAGG	0.657																																						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.(4276-4278)acC>acA		sidekick cell adhesion molecule 1							59.0	55.0	56.0					7																	4185403		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4185403C>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.4278C>A	7.37:g.4185403C>A						SDK1_ENST00000389531.3_Silent_p.T1426T	p.T1426T	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)	29	4417	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1426			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4278C>A	CCDS34590.1																																																																																				0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	60	1	0	1.76689e-08	0.000442599	7.24714e-08	9	60				
SOX5	6660	broad.mit.edu	37	12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:23999030G>A	ENST00000451604.2	-	3	469	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SOX5_ENST00000546136.1_Missense_Mutation_p.S110F|SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(328-330)tCc>tTc		SRY (sex determining region Y)-box 5							135.0	121.0	126.0					12																	23999030		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999030G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.368C>T	12.37:g.23999030G>A	ENSP00000398273:p.Ser123Phe					SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000451604.2_Missense_Mutation_p.S123F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F	p.S110F			P35711	SOX5_HUMAN			2	331	-			123					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.329C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173133	0.57584	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97161	-4.16;-4.16;-4.16;-4.16;-4.27;-4.16;-4.16	5.79	4.85	0.62838	.	0.466547	0.24935	N	0.034440	D	0.95169	0.8434	L	0.34521	1.04	0.41146	D	0.98599	D;P;B;B	0.54207	0.965;0.573;0.078;0.437	P;B;B;B	0.51135	0.66;0.257;0.031;0.174	D	0.92918	0.6353	10	0.10111	T	0.7	.	15.6637	0.77209	0.0:0.0:0.8623:0.1377	.	88;88;110;123	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	F	110;110;110;123;75;88;110;113;113;88;110	ENSP00000437487:S110F;ENSP00000308927:S110F;ENSP00000370788:S110F;ENSP00000398273:S123F;ENSP00000439832:S88F;ENSP00000441973:S110F;ENSP00000443520:S113F	ENSP00000308927:S110F	S	-	2	0	SOX5	23890297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.842000	0.69417	2.744000	0.94065	0.650000	0.86243	TCC		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	53	0	0	0	0.0024448	0	33	53				
GLIPR1	11010	broad.mit.edu	37	12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(565-567)Gga>Aga		GLI pathogenesis-related 1							60.0	59.0	59.0					12																	75889388		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75889388G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.565G>A	12.37:g.75889388G>A	ENSP00000266659:p.Gly189Arg						p.G189R	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			4	766	+			189					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.565G>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093972	0.76870	.	.	ENSG00000139278	ENST00000266659	T	0.20332	2.08	5.01	5.01	0.66863	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.89163	3.01	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.63690	-0.6580	10	0.87932	D	0	.	16.8607	0.86017	0.0:0.0:1.0:0.0	.	189	P48060	GLIP1_HUMAN	R	189	ENSP00000266659:G189R	ENSP00000266659:G189R	G	+	1	0	GLIPR1	74175655	1.000000	0.71417	0.350000	0.25708	0.585000	0.36419	6.533000	0.73829	2.494000	0.84150	0.655000	0.94253	GGA		0.378	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		3	24	0	0	0	6.4e-05	0	3	24				
TRBV5-4	28611	broad.mit.edu	37	7	142168472	142168472	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:142168472G>A	ENST00000454561.2	-	0	451									T cell receptor beta variable 5-4																		CTGGAGACCTGAGAATCTAGG	0.537																																						ENST00000454561.2																			0																				85.0	85.0	85.0					7																	142168472		1886	4109	5995			28611							g.chr7:142168472G>A	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168472G>A														0	451	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.537	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		54	70	0	0	0	0.000781405	0	54	70				
SMARCA4	6597	broad.mit.edu	37	19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11105592C>A	ENST00000429416.3	+	10	1789	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1507-1509)gCa>gAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							127.0	103.0	111.0					19																	11105592		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11105592C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1508C>A	19.37:g.11105592C>A	ENSP00000395654:p.Ala503Glu					SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E	p.A503E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			9	1792	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	503			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1508C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005638	0.93287	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.46	4.46	0.54185	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.985;0.975;0.999;0.999	D;D;D;D;P;D;D	0.76071	0.974;0.974;0.974;0.94;0.883;0.987;0.987	T	0.77172	-0.2685	10	0.87932	D	0	-26.3724	16.3965	0.83607	0.0:1.0:0.0:0.0	.	503;503;503;503;503;503;503	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	E	503	ENSP00000395654:A503E;ENSP00000350720:A503E;ENSP00000343896:A503E;ENSP00000445036:A503E;ENSP00000392837:A503E;ENSP00000397783:A503E;ENSP00000414727:A503E	ENSP00000343896:A503E	A	+	2	0	SMARCA4	10966592	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.581000	0.82535	2.487000	0.83934	0.563000	0.77884	GCA		0.532	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	21	1	0	3.86212e-05	0.000673444	0.000147609	4	21				
CFAP70	118491	broad.mit.edu	37	10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:75059376C>T	ENST00000310715.3	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000493787.1_5'UTR|snoU13_ENST00000459292.1_RNA|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000401621.2_Missense_Mutation_p.G505E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		505						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1513-1515)gGa>gAa		tetratricopeptide repeat domain 18							74.0	69.0	71.0					10																	75059376		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75059376C>T																												ENST00000310715.3:c.1514G>A	10.37:g.75059376C>T	ENSP00000310829:p.Gly505Glu					TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.G505E|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron	p.G505E			Q5T0N1	TTC18_HUMAN			14	1634	-	Prostate(51;0.0119)		505					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1514G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922932	0.73213	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	D;D;D	0.92965	-3.14;-3.14;-3.14	5.81	5.81	0.92471	.	0.127020	0.53938	D	0.000041	D	0.93067	0.7793	L	0.60455	1.87	0.44359	D	0.997254	D;D	0.59357	0.957;0.985	P;P	0.53518	0.728;0.614	D	0.91700	0.5373	10	0.34782	T	0.22	-5.5272	15.5759	0.76387	0.0:1.0:0.0:0.0	.	505;505	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	E	505	ENSP00000310829:G505E;ENSP00000384479:G505E;ENSP00000378334:G505E	ENSP00000310829:G505E	G	-	2	0	TTC18	74729382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.624000	0.24462	2.763000	0.94921	0.650000	0.86243	GGA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	27	0	0	0	0.00074312	0	14	27				
EN1	2019	broad.mit.edu	37	2	119603946	119603946	+	Silent	SNP	C	C	T	rs368737948		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(796-798)tcG>tcA		engrailed homeobox 1							23.0	28.0	26.0					2																	119603946		2202	4299	6501	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119603946C>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.798G>A	2.37:g.119603946C>T							p.S266S	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	1308	-			266					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.798G>A	CCDS2123.1																																																																																				0.637	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			5	14	0	0	0	0.000602214	0	5	14				
CA10	56934	broad.mit.edu	37	17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:49726560G>C	ENST00000285273.4	-	7	1728	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000451037.2_Missense_Mutation_p.T206R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000571918.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGTTATTCTTGTGATAGTATC	0.383																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(616-618)aCa>aGa		carbonic anhydrase X							129.0	134.0	133.0					17																	49726560		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49726560G>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.617C>G	17.37:g.49726560G>C	ENSP00000285273:p.Thr206Arg					CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000285273.4_Missense_Mutation_p.T206R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R	p.T206R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		6	1557	-			206					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.617C>G	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170995	0.78452	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.37	5.37	0.77165	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	L	0.52905	1.665	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.91	D;D;P	0.81914	0.991;0.995;0.752	T	0.78510	-0.2176	10	0.33141	T	0.24	.	18.0905	0.89474	0.0:0.0:1.0:0.0	.	206;212;131	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	R	206;206;206;212	ENSP00000390666:T206R;ENSP00000285273:T206R;ENSP00000405388:T206R;ENSP00000340363:T212R	ENSP00000285273:T206R	T	-	2	0	CA10	47081559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.035000	0.93752	2.494000	0.84150	0.591000	0.81541	ACA		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		5	62	0	0	0	0.000602214	0	5	62				
IL36A	27179	broad.mit.edu	37	2	113764229	113764229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113764229G>C	ENST00000259211.6	+	3	590	c.179G>C	c.(178-180)gGg>gCg	p.G60A		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAAGACAGAGGGAACCCCATC	0.527																																						ENST00000259211.6																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(178-180)gGg>gCg		interleukin 36, alpha							251.0	254.0	253.0					2																	113764229		1992	4160	6152	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113764229G>C	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.179G>C	2.37:g.113764229G>C	ENSP00000259211:p.Gly60Ala						p.G60A	NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN			3	590	+			60					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.179G>C	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889222	0.52014	.	.	ENSG00000136694	ENST00000259211	T	0.18810	2.19	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000020	T	0.40619	0.1124	M	0.76170	2.325	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.23404	-1.0189	10	0.21014	T	0.42	-12.4534	9.4903	0.38955	0.0959:0.0:0.9041:0.0	.	60	Q9UHA7	IL36A_HUMAN	A	60	ENSP00000259211:G60A	ENSP00000259211:G60A	G	+	2	0	IL36A	113480700	0.957000	0.32711	0.119000	0.21687	0.824000	0.46624	3.958000	0.56737	1.359000	0.45940	0.591000	0.81541	GGG		0.527	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		61	221	0	0	0	0.000781405	0	61	221				
ZNF808	388558	broad.mit.edu	37	19	53058290	53058290	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2119-2121)taC>taT		zinc finger protein 808							228.0	225.0	226.0					19																	53058290		2203	4300	6503	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058290C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2121C>T	19.37:g.53058290C>T							p.Y707Y	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2301	+			707					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.2121C>T	CCDS46167.1																																																																																				0.413	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		19	250	0	0	0	0.00121646	0	19	250				
SLC20A1	6574	broad.mit.edu	37	2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1531-1533)Gtc>Atc		solute carrier family 20 (phosphate transporter), member 1							163.0	160.0	161.0					2																	113417263		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417263G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1531G>A	2.37:g.113417263G>A	ENSP00000272542:p.Val511Ile						p.V511I	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	2070	+			511					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1531G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040566	0.55003	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90563	-2.69	5.26	3.08	0.35506	.	0.117180	0.56097	N	0.000024	D	0.86781	0.6015	L	0.41356	1.27	0.45899	D	0.998749	B;B	0.28820	0.224;0.224	B;B	0.36186	0.219;0.219	D	0.84025	0.0356	10	0.45353	T	0.12	-28.222	10.6519	0.45653	0.1904:0.0:0.8096:0.0	.	511;511	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	I	511;323	ENSP00000272542:V511I	ENSP00000272542:V511I	V	+	1	0	SLC20A1	113133734	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.698000	0.74608	1.199000	0.43173	0.655000	0.94253	GTC		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	163	0	0	0	0.00185496	0	11	163				
SCIN	85477	broad.mit.edu	37	7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000445618.2_Missense_Mutation_p.V222A|SCIN_ENST00000519209.1_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	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)		GGACAGGCTGTGCAGGTTGGG	0.468																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1405-1407)gTg>gCg		scinderin							75.0	74.0	75.0					7																	12675756		1972	4166	6138	SO:0001583	missense	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.chr7:12675756T>C	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.1406T>C	7.37:g.12675756T>C	ENSP00000297029:p.Val469Ala					SCIN_ENST00000519209.1_Missense_Mutation_p.V222A|SCIN_ENST00000445618.2_Missense_Mutation_p.V222A	p.V469A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1507	+			469			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1406T>C	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803611	0.90623	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.56776	0.44;0.44;0.44	5.44	5.44	0.79542	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.86343	2.81	0.80722	D	1	P	0.47191	0.891	P	0.61658	0.892	T	0.79799	-0.1651	10	0.87932	D	0	-17.3925	15.4938	0.75632	0.0:0.0:0.0:1.0	.	469	Q9Y6U3	ADSV_HUMAN	A	469;222;222	ENSP00000297029:V469A;ENSP00000430997:V222A;ENSP00000390189:V222A	ENSP00000297029:V469A	V	+	2	0	SCIN	12642281	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.981000	0.70524	2.054000	0.61138	0.533000	0.62120	GTG		0.468	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		4	8	0	0	0	0.000602214	0	4	8				
LGR6	59352	broad.mit.edu	37	1	202287594	202287594	+	Silent	SNP	G	G	A	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000255432.7_Silent_p.A669A|LGR6_ENST00000439764.2_Silent_p.A582A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2161-2163)gcG>gcA		leucine-rich repeat containing G protein-coupled receptor 6		G	,,	1,4405	2.1+/-5.4	0,1,2202	45.0	41.0	42.0		2163,1746,2007	-3.3	0.7	1	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	721/968,582/829,669/916	202287594	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287594G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2163G>A	1.37:g.202287594G>A						LGR6_ENST00000255432.7_Silent_p.A669A|LGR6_ENST00000439764.2_Silent_p.A582A	p.A721A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2252	+			721					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2163G>A	CCDS30971.1																																																																																				0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	33	0	0	0	0.000442599	0	10	33				
NAA15	80155	broad.mit.edu	37	4	140309172	140309172	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2533-2535)gaG>gaA		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							98.0	88.0	91.0					4																	140309172		1854	4100	5954	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140309172G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2535G>A	4.37:g.140309172G>A						NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	p.E845E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			20	2858	+			845					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2535G>A	CCDS43270.1																																																																																				0.388	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		13	25	0	0	0	0.00136819	0	13	25				
OR8S1	341568	broad.mit.edu	37	12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260						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(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(778-780)Ctc>Gtc		olfactory receptor, family 8, subfamily S, member 1							104.0	99.0	101.0					12																	48920192		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920192C>G		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.778C>G	12.37:g.48920192C>G	ENSP00000310632:p.Leu260Val					OR8S1_ENST00000551654.1_Intron	p.L260V	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	778	+			260						Missense_Mutation	SNP	ENST00000310194.1	37	c.778C>G	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809117	0.31961	.	.	ENSG00000197376	ENST00000310194	T	0.39787	1.06	4.71	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.430079	0.17323	N	0.178425	T	0.39279	0.1072	L	0.41027	1.25	0.09310	N	0.999997	P	0.35575	0.51	P	0.45406	0.479	T	0.25082	-1.0142	10	0.42905	T	0.14	-40.0598	6.4494	0.21896	0.0:0.7042:0.0:0.2958	.	260	Q8NH09	OR8S1_HUMAN	V	260	ENSP00000310632:L260V	ENSP00000310632:L260V	L	+	1	0	OR8S1	47206459	0.000000	0.05858	0.142000	0.22268	0.938000	0.57974	-2.051000	0.01402	0.703000	0.31848	0.655000	0.94253	CTC		0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			22	49	0	0	0	0.00278032	0	22	49				
FAM71B	153745	broad.mit.edu	37	5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1186-1188)Gga>Cga		family with sequence similarity 71, member B							64.0	67.0	66.0					5																	156590090		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590090C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1186G>C	5.37:g.156590090C>G	ENSP00000305596:p.Gly396Arg						p.G396R	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1281	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	396					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1186G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229481	0.22542	.	.	ENSG00000170613	ENST00000302938	T	0.18174	2.23	4.26	-1.42	0.08913	.	1.537060	0.04411	N	0.366059	T	0.23330	0.0564	M	0.61703	1.905	0.09310	N	1	P	0.51933	0.949	P	0.48030	0.564	T	0.31724	-0.9933	10	0.42905	T	0.14	1.0691	6.04	0.19728	0.0:0.2601:0.5213:0.2186	.	396	Q8TC56	FA71B_HUMAN	R	396	ENSP00000305596:G396R	ENSP00000305596:G396R	G	-	1	0	FAM71B	156522668	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.120000	0.10660	-0.181000	0.10619	0.561000	0.74099	GGA		0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		25	34	0	0	0	0.00278032	0	25	34				
EPB41L3	23136	broad.mit.edu	37	18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A	rs548784436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21864	0.0		0.0	False		,,,				2504	0.0					ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1888-1890)cCg>cTg		erythrocyte membrane protein band 4.1-like 3							217.0	149.0	172.0					18																	5415995		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415995G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1889C>T	18.37:g.5415995G>A	ENSP00000343158:p.Pro630Leu					EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron	p.P630L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2229	-			630			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1889C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869936	0.91587	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82344	-1.6;-1.6	5.37	5.37	0.77165	.	0.319537	0.29692	N	0.011455	D	0.90601	0.7053	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.91400	0.5142	10	0.87932	D	0	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	630	Q9Y2J2	E41L3_HUMAN	L	630	ENSP00000343158:P630L;ENSP00000341138:P630L	ENSP00000343158:P630L	P	-	2	0	EPB41L3	5405995	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	9.687000	0.98667	2.509000	0.84616	0.563000	0.77884	CCG		0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		18	59	0	0	0	0.00074312	0	18	59				
SLITRK6	84189	broad.mit.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1657-1659)Gac>Aac		SLIT and NTRK-like family, member 6							99.0	99.0	99.0					13																	86368987		1933	4130	6063	SO:0001583	missense	84189					integral to membrane		g.chr13:86368987C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1657G>A	13.37:g.86368987C>T	ENSP00000383143:p.Asp553Asn						p.D553N	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2255	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		553			LRRCT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1657G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723689	0.03158	.	.	ENSG00000184564	ENST00000400286	T	0.02369	4.32	5.93	-1.22	0.09494	Cysteine-rich flanking region, C-terminal (1);	0.678779	0.13916	U	0.353868	T	0.01765	0.0056	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.32370	T	0.25	-0.3269	6.7726	0.23602	0.0:0.2843:0.2233:0.4924	.	553	Q9H5Y7	SLIK6_HUMAN	N	553	ENSP00000383143:D553N	ENSP00000383143:D553N	D	-	1	0	SLITRK6	85266988	0.017000	0.18338	0.000000	0.03702	0.174000	0.22865	1.266000	0.33039	-0.661000	0.05345	-0.794000	0.03295	GAC		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	54	0	0	0	0.000673444	0	11	54				
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25						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)		GGAACACCAGGAACTGTATGA	0.488																																						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.(73-75)ttC>ttA		olfactory receptor, family 6, subfamily T, member 1							111.0	105.0	107.0					11																	123814471		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814471G>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.75C>A	11.37:g.123814471G>T	ENSP00000325203:p.Phe25Leu						p.F25L	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	109	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.75C>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380910	0.11466	.	.	ENSG00000181499	ENST00000321252	T	0.00402	7.56	3.74	-2.63	0.06133	.	.	.	.	.	T	0.00109	0.0003	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.41790	T	0.15	-11.9671	6.6286	0.22843	0.1797:0.411:0.4094:0.0	.	25	Q8NGN1	OR6T1_HUMAN	L	25	ENSP00000325203:F25L	ENSP00000325203:F25L	F	-	3	2	OR6T1	123319681	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-0.762000	0.04745	-0.333000	0.08476	0.655000	0.94253	TTC		0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		36	74	1	0	5.43694e-19	0.00111076	2.46003e-18	36	74				
TJP1	7082	broad.mit.edu	37	15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4288-4290)Cca>Gca		tight junction protein 1							175.0	190.0	185.0					15																	30003119		2064	4206	6270	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003119G>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4288C>G	15.37:g.30003119G>C	ENSP00000281537:p.Pro1430Ala					TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A|TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A	p.P1430A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4762	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1430			Poly-Pro.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4288C>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625791	0.46840	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.09350	2.99;3.04	5.62	4.68	0.58851	.	0.184350	0.48767	D	0.000167	T	0.28995	0.0720	L	0.60455	1.87	0.80722	D	1	B;B;B;D	0.71674	0.008;0.011;0.004;0.998	B;B;B;D	0.78314	0.005;0.009;0.004;0.991	T	0.00593	-1.1654	10	0.66056	D	0.02	.	14.9891	0.71371	0.0:0.1412:0.8588:0.0	.	1423;1350;1430;1354	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1430;1354;1430;1350;1350	ENSP00000281537:P1430A;ENSP00000382890:P1354A	ENSP00000281537:P1430A	P	-	1	0	TJP1	27790411	0.998000	0.40836	0.694000	0.30210	0.751000	0.42716	2.402000	0.44521	2.642000	0.89623	0.655000	0.94253	CCA		0.532	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		76	109	0	0	0	0.000781405	0	76	109				
CSMD3	114788	broad.mit.edu	37	8	113326782	113326782	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000343508.3_Silent_p.P2435P|CSMD3_ENST00000352409.3_Silent_p.P2405P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7423-7425)ccT>ccA		CUB and Sushi multiple domains 3							102.0	97.0	99.0					8																	113326782		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113326782A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7425T>A	8.37:g.113326782A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000343508.3_Silent_p.P2435P|CSMD3_ENST00000352409.3_Silent_p.P2405P	p.P2475P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			48	7669	-			2475			CUB 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7425T>A	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	23	0	0	0	0.000673444	0	11	23				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		22	55	0	0	0	0.00152264	0	22	55				
KRTAP5-10	387273	broad.mit.edu	37	11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(433-435)Tgt>Cgt		keratin associated protein 5-10							84.0	107.0	99.0					11																	71277066		2200	4293	6493	SO:0001583	missense	387273					keratin filament		g.chr11:71277066T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.433T>C	11.37:g.71277066T>C	ENSP00000381542:p.Cys145Arg					KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	p.C145R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	458	+			145			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.433T>C	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.773	-0.765051	0.02996	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01430	4.9;5.41	1.95	1.95	0.26073	.	.	.	.	.	T	0.02455	0.0075	M	0.82823	2.61	0.26601	N	0.973012	P	0.39964	0.697	B	0.32289	0.143	T	0.32161	-0.9917	9	0.59425	D	0.04	.	7.808	0.29215	0.0:0.0:0.0:1.0	.	145	Q6L8G5	KR510_HUMAN	R	145;97	ENSP00000381542:C145R;ENSP00000365719:C97R	ENSP00000365719:C97R	C	+	1	0	KRTAP5-10	70954714	0.732000	0.28121	0.410000	0.26471	0.005000	0.04900	0.567000	0.23608	1.160000	0.42584	0.383000	0.25322	TGT		0.647	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			47	102	0	0	0	0.000781405	0	47	102				
LRRC14	9684	broad.mit.edu	37	8	145746352	145746352	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(970-972)gaG>gaA		leucine rich repeat containing 14							130.0	138.0	135.0					8																	145746352		2203	4299	6502	SO:0001819	synonymous_variant	9684							g.chr8:145746352G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.972G>A	8.37:g.145746352G>A						LRRC14_ENST00000529022.1_Silent_p.E324E	p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1118	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		324					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.972G>A	CCDS6432.1																																																																																				0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		18	159	0	0	0	0.000566183	0	18	159				
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	A	rs267606070		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(664-666)gcC>gcT		p21 protein (Cdc42/Rac)-activated kinase 7							75.0	73.0	74.0					20																	9561116		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561116G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.666C>T	20.37:g.9561116G>A						PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1212	-			222			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.666C>T	CCDS13107.1																																																																																				0.488	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			15	35	0	0	0	0.000566183	0	15	35				
N4BP3	23138	broad.mit.edu	37	5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGAAGCCCAGGCGGAACTGGC	0.622																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(1165-1167)Gcg>Acg		NEDD4 binding protein 3							97.0	108.0	104.0					5																	177548532		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177548532G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1165G>A	5.37:g.177548532G>A	ENSP00000274605:p.Ala389Thr						p.A389T	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1524	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	389					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.1165G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015677	0.93404	.	.	ENSG00000145911	ENST00000274605	T	0.51574	0.7	5.05	5.05	0.67936	.	0.103551	0.64402	D	0.000004	T	0.55924	0.1951	L	0.36672	1.1	0.58432	D	0.99999	D	0.71674	0.998	D	0.66847	0.947	T	0.47935	-0.9078	10	0.20519	T	0.43	-12.7974	15.9263	0.79618	0.0:0.0:1.0:0.0	.	389	O15049	N4BP3_HUMAN	T	389	ENSP00000274605:A389T	ENSP00000274605:A389T	A	+	1	0	N4BP3	177481138	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	7.903000	0.87398	2.362000	0.80069	0.561000	0.74099	GCG		0.622	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		47	90	0	0	0	0.000781405	0	47	90				
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CHERP_ENST00000546361.2_Silent_p.Q336Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					ENST00000546361.2																			2	Substitution - coding silent(2)	p.Q336Q(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1006-1008)caA>caG		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	p.Q336Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1159	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	40	0	0	0	6.4e-05	0	3	40				
SENP6	26054	broad.mit.edu	37	6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:76344481C>T	ENST00000447266.2	+	5	890	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000370014.3_Missense_Mutation_p.H138Y	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(412-414)Cat>Tat		SUMO1/sentrin specific peptidase 6							110.0	102.0	105.0					6																	76344481		1875	4119	5994	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344481C>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.412C>T	6.37:g.76344481C>T	ENSP00000402527:p.His138Tyr					SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000447266.2_Missense_Mutation_p.H138Y	p.H138Y	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			5	1031	+		all_hematologic(105;0.189)	138					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.412C>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699743	0.68501	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.83	5.83	0.93111	.	0.435365	0.26411	N	0.024532	T	0.46249	0.1383	M	0.61703	1.905	0.80722	D	1	P;P;P	0.40376	0.715;0.593;0.715	B;B;B	0.43575	0.309;0.163;0.424	T	0.51116	-0.8746	10	0.72032	D	0.01	-0.7907	19.7221	0.96147	0.0:1.0:0.0:0.0	.	138;138;138	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Y	138;138;138;138;138;29;28	ENSP00000359027:H138Y;ENSP00000359031:H138Y;ENSP00000321820:H138Y;ENSP00000402527:H138Y;ENSP00000426480:H29Y;ENSP00000391426:H28Y	ENSP00000321820:H138Y	H	+	1	0	SENP6	76401201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.068000	0.64364	2.775000	0.95449	0.585000	0.79938	CAT		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		14	32	0	0	0	0.000308642	0	14	32				
PLXND1	23129	broad.mit.edu	37	3	129303021	129303021	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:129303021G>A	ENST00000324093.4	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000393239.1_Silent_p.A695A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	695					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2083-2085)gcC>gcT		plexin D1							114.0	78.0	90.0					3																	129303021		2203	4299	6502	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303021G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2085C>T	3.37:g.129303021G>A						PLXND1_ENST00000324093.4_Silent_p.A695A	p.A695A			Q9Y4D7	PLXD1_HUMAN			7	2263	-			695					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2085C>T	CCDS33854.1																																																																																				0.597	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	6	0	0	0	0.000602214	0	5	6				
GRIN3A	116443	broad.mit.edu	37	9	104449192	104449192	+	Silent	SNP	G	G	A	rs144389302	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTTCCATGTCGCAGCCAAACA	0.527																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(988-990)tgC>tgT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	A		0,4406		0,0,2203	85.0	82.0	83.0		990	-6.5	0.0	9	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIN3A	NM_133445.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		330/1116	104449192	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449192G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.990C>T	9.37:g.104449192G>A							p.C330C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1590	-		Acute lymphoblastic leukemia(62;0.0568)	330					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.990C>T	CCDS6758.1																																																																																				0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			11	26	0	0	0	0.000673444	0	11	26				
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25213157C>T	ENST00000577949.1	+	3	252	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000338094.6_Silent_p.F63F|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	63						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468																																						ENST00000338094.6																			0				breast(2)|large_intestine(2)|lung(1)	5						c.(187-189)ttC>ttT		SNRPN upstream reading frame							119.0	108.0	111.0					15																	25213157		2203	4300	6503	SO:0001819	synonymous_variant	8926							g.chr15:25213157C>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.189C>T	15.37:g.25213157C>T						SNURF_ENST00000577949.1_Silent_p.F63F|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000554227.2_5'UTR	p.F63F	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2				all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	3	250	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)						A6NCW2	Silent	SNP	ENST00000577949.1	37	c.189C>T	CCDS10016.1																																																																																				0.468	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		4	60	0	0	0	0.000602214	0	4	60				
LMBRD1	55788	broad.mit.edu	37	6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(757-759)tCa>tGa		LMBR1 domain containing 1							173.0	142.0	152.0					6																	70428852		2203	4300	6503	SO:0001587	stop_gained	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70428852G>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.758C>G	6.37:g.70428852G>C	ENSP00000359609:p.Ser253*					LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	p.S253*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			8	987	-			253					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Nonsense_Mutation	SNP	ENST00000370577.3	37	c.758C>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710790	0.68730	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	.	.	.	5.21	5.21	0.72293	.	0.062950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.5387	18.7413	0.91774	0.0:0.0:1.0:0.0	.	.	.	.	X	253;180	.	ENSP00000359602:S180X	S	-	2	0	LMBRD1	70485573	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.502000	0.81614	2.398000	0.81561	0.467000	0.42956	TCA		0.353	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		5	23	0	0	0	0.000602214	0	5	23				
STARD13	90627	broad.mit.edu	37	13	33703125	33703125	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1687-1689)ccT>ccC		StAR-related lipid transfer (START) domain containing 13							63.0	62.0	62.0					13																	33703125		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703125A>G	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1689T>C	13.37:g.33703125A>G						STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	p.P563P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1805	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	563					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1689T>C	CCDS9348.1																																																																																				0.473	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		18	32	0	0	0	0.00074312	0	18	32				
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(982-984)taC>taT		vomeronasal 1 receptor 2							272.0	235.0	248.0					19																	53762612		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762612C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.984C>T	19.37:g.53762612C>T						VN1R2_ENST00000598458.1_Intron	p.Y328Y	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1068	+			328					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.984C>T	CCDS12862.1																																																																																				0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		45	109	0	0	0	0.00285205	0	45	109				
USP8	9101	broad.mit.edu	37	15	50788056	50788056	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:50788056G>C	ENST00000396444.3	+	17	3008	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Silent_p.R890R|USP8_ENST00000307179.4_Silent_p.R890R|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Silent_p.R784R	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890	USP.				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)		CTGATAATCGGAAGAGATATA	0.318																																						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.(2668-2670)cgG>cgC		ubiquitin specific peptidase 8							24.0	24.0	24.0					15																	50788056		2196	4264	6460	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.chr15:50788056G>C	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.2670G>C	15.37:g.50788056G>C						USP8_ENST00000425032.3_Silent_p.R784R|USP8_ENST00000307179.4_Silent_p.R890R|USP8_ENST00000396444.3_Silent_p.R890R|RP11-562A8.5_ENST00000560159.1_lincRNA	p.R890R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3170	+			890					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2670G>C	CCDS10137.1																																																																																				0.318	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		6	16	0	0	0	0.000157383	0	6	16				
NSD1	64324	broad.mit.edu	37	5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					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)		TTGGCTCAGTCAGAACTTGGA	0.542			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.(4075-4077)tCa>tAa		nuclear receptor binding SET domain protein 1							98.0	97.0	97.0					5																	176665392		2203	4300	6503	SO:0001587	stop_gained	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.chr5:176665392C>A	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.4076C>A	5.37:g.176665392C>A	ENSP00000395929:p.Ser1359*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	p.S1359*	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)	7	4121	+	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)	1359					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4076C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	41	8.991467	0.99029	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.28	5.28	0.74379	.	0.267348	0.27323	N	0.019882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2969	0.66318	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1359;1090;1256	.	ENSP00000343209:S1090X	S	+	2	0	NSD1	176597998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.959000	0.56744	2.756000	0.94617	0.655000	0.94253	TCA		0.542	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		78	34	1	0	1.03218e-28	0.000781405	4.6401e-28	78	34				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	62	0	0	0	0.00188189	0	17	62				
CERS2	29956	broad.mit.edu	37	1	150941485	150941485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:150941485G>A	ENST00000271688.6	-	2	468	c.82C>T	c.(82-84)Cga>Tga	p.R28*	CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	28					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CGTCCATCTCGGTCTTCTAGA	0.527																																						ENST00000271688.6																			0											c.(82-84)Cga>Tga		ceramide synthase 2							146.0	112.0	124.0					1																	150941485		2203	4300	6503	SO:0001587	stop_gained	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150941485G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.82C>T	1.37:g.150941485G>A	ENSP00000271688:p.Arg28*					CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*|CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron	p.R28*	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			2	468	-			28					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Nonsense_Mutation	SNP	ENST00000271688.6	37	c.82C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614630	0.87359	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	.	.	.	4.65	3.64	0.41730	.	0.157936	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-2.3164	10.8078	0.46529	0.0:0.0:0.5642:0.4358	.	.	.	.	X	28;28;48;28;28;28	.	ENSP00000271688:R28X	R	-	1	2	CERS2	149208109	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	2.628000	0.46477	0.940000	0.37473	0.650000	0.86243	CGA		0.527	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		8	47	0	0	0	0.000157383	0	8	47				
B4GALNT3	283358	broad.mit.edu	37	12	666883	666883	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATAGCAGTGAGGACATGGATG	0.547																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2488-2490)gaG>gaA		beta-1,4-N-acetyl-galactosaminyl transferase 3							72.0	63.0	66.0					12																	666883		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:666883G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2490G>A	12.37:g.666883G>A							p.E830E	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		16	2503	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		830					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2490G>A	CCDS8504.1																																																																																				0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		14	21	0	0	0	0.00244969	0	14	21				
PHKB	5257	broad.mit.edu	37	16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr16:47627442T>C	ENST00000323584.5	+	11	1124	c.1100T>C	c.(1099-1101)aTa>aCa	p.I367T	PHKB_ENST00000566044.1_Missense_Mutation_p.I360T|PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000455779.1_Missense_Mutation_p.I360T	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					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)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1078-1080)aTa>aCa		phosphorylase kinase, beta							71.0	69.0	70.0					16																	47627442		2198	4297	6495	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47627442T>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1100T>C	16.37:g.47627442T>C	ENSP00000313504:p.Ile367Thr					PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T|PHKB_ENST00000323584.5_Missense_Mutation_p.I367T	p.I360T			Q93100	KPBB_HUMAN			12	1264	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	367					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1079T>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407741	0.83340	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92965	-3.14;-3.14	5.36	5.36	0.76844	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.117909	0.56097	D	0.000021	D	0.94456	0.8216	M	0.65498	2.005	0.58432	D	0.999991	P;P	0.40660	0.51;0.726	P;P	0.54100	0.742;0.552	D	0.94987	0.8131	10	0.87932	D	0	-17.1707	15.3467	0.74343	0.0:0.0:0.0:1.0	.	367;360	Q93100;Q93100-4	KPBB_HUMAN;.	T	360;360;367	ENSP00000414345:I360T;ENSP00000313504:I367T	ENSP00000299167:I360T	I	+	2	0	PHKB	46184943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.374000	0.66167	2.021000	0.59480	0.528000	0.53228	ATA		0.249	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			10	18	0	0	0	0.000978159	0	10	18				
SYNGR1	9145	broad.mit.edu	37	22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A|SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	157	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(469-471)Tcc>Gcc		synaptogyrin 1							99.0	107.0	104.0					22																	39772188		2203	4300	6503	SO:0001583	missense	9145							g.chr22:39772188T>G	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.469T>G	22.37:g.39772188T>G	ENSP00000332287:p.Ser157Ala					SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A|SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A	p.S157A	NM_004711.4	NP_004702.2					3	484	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.469T>G	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622312	0.87460	.	.	ENSG00000100321	ENST00000318801;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.21	4.18	0.49190	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.92077	3.27	0.58432	D	0.999999	D;P;D;D	0.69078	0.997;0.824;0.996;0.997	D;B;D;D	0.80764	0.994;0.3;0.936;0.993	T	0.64381	-0.6421	10	0.59425	D	0.04	.	10.8901	0.46990	0.0:0.0739:0.0:0.9261	.	158;151;157;157	O43759-3;Q59FT7;O43759;O43759-2	.;.;SNG1_HUMAN;.	A	157;157;157;158	ENSP00000318845:S157A;ENSP00000385447:S157A;ENSP00000332287:S157A;ENSP00000370946:S158A	ENSP00000318845:S157A	S	+	1	0	SYNGR1	38102134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	0.933000	0.37291	0.454000	0.30748	TCC		0.637	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		35	51	0	0	0	0.00111076	0	35	51				
DNAI2	64446	broad.mit.edu	37	17	72285736	72285736	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:72285736C>T	ENST00000311014.6	+	5	538	c.471C>T	c.(469-471)gaC>gaT	p.D157D	DNAI2_ENST00000579490.1_Silent_p.D214D|DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(640-642)gaC>gaT		dynein, axonemal, intermediate chain 2							43.0	45.0	44.0					17																	72285736		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285736C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.471C>T	17.37:g.72285736C>T						DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000311014.6_Silent_p.D157D|DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D	p.D214D			Q9GZS0	DNAI2_HUMAN			4	777	+			157					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.642C>T	CCDS11697.1																																																																																				0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		22	34	0	0	0	0.00188189	0	22	34				
IL4	3565	broad.mit.edu	37	5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542																																						ENST00000231449.2																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(214-216)Gct>Act		interleukin 4							112.0	116.0	115.0					5																	132015436		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132015436G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.214G>A	5.37:g.132015436G>A	ENSP00000231449:p.Ala72Thr					IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	p.A72T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	3	279	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	72					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.214G>A	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013551	0.93346	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.65549	-0.16;-0.16	5.57	5.57	0.84162	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.127761	0.36409	N	0.002618	T	0.78110	0.4232	M	0.73430	2.235	0.41441	D	0.987924	D;D	0.67145	0.996;0.996	D;D	0.70935	0.971;0.971	T	0.80473	-0.1367	10	0.72032	D	0.01	-9.4664	15.0587	0.71936	0.0:0.0:1.0:0.0	.	56;72	Q5FC01;P05112	.;IL4_HUMAN	T	72;56	ENSP00000231449:A72T;ENSP00000325190:A56T	ENSP00000231449:A72T	A	+	1	0	IL4	132043335	0.964000	0.33143	0.992000	0.48379	0.993000	0.82548	2.916000	0.48813	2.638000	0.89438	0.650000	0.86243	GCT		0.542	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		63	124	0	0	0	0.000781405	0	63	124				
KCNJ12	3768	broad.mit.edu	37	17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	371				S -> R (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCTGCTGCCCAGCGCCAACTC	0.607										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(1111-1113)Agc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 12							93.0	86.0	89.0					17																	21319765		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319765A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1111A>T	17.37:g.21319765A>T	ENSP00000463778:p.Ser371Cys	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	p.S371C	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	2006	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1111A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781484	0.49891	.	.	ENSG00000184185	ENST00000331718	D	0.94184	-3.37	5.65	4.57	0.56435	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.337788	0.37012	N	0.002288	D	0.94631	0.8269	L	0.60455	1.87	0.41906	D	0.990449	D	0.58970	0.984	D	0.64237	0.923	D	0.93838	0.7134	10	0.56958	D	0.05	.	9.4714	0.38844	0.8572:0.0:0.1428:0.0	.	371	Q14500	IRK12_HUMAN	C	371	ENSP00000328150:S371C	ENSP00000328150:S371C	S	+	1	0	KCNJ12	21260358	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.380000	0.59581	0.975000	0.38392	0.523000	0.50628	AGC		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	84	0	0	0	0.00198382	0	5	84				
EPM2AIP1	9852	broad.mit.edu	37	3	37033930	37033930	+	Silent	SNP	G	G	A	rs376388178		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(637-639)aaC>aaT		EPM2A (laforin) interacting protein 1		G		1,4023		0,1,2011	87.0	88.0	88.0		639	3.6	1.0	3		88	1,8353		0,1,4176	no	coding-synonymous	EPM2AIP1	NM_014805.3		0,2,6187	AA,AG,GG		0.012,0.0249,0.0162		213/608	37033930	2,12376	2012	4177	6189	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37033930G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.639C>T	3.37:g.37033930G>A							p.N213N	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	865	-			213					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.639C>T	CCDS46790.1																																																																																				0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		6	97	0	0	0	0.00116845	0	6	97				
TSPY1	7258	broad.mit.edu	37	Y	9305927	9305927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrY:9305927C>G	ENST00000451548.1	+	3	629	c.583C>G	c.(583-585)Cct>Gct	p.P195A	AC006156.1_ENST00000423213.1_Intron|TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000450145.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	195			P -> R. {ECO:0000269|PubMed:10773691, ECO:0000269|PubMed:11173833}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(4)	4						AGAGAAGCATCCTGTTCATCT	0.443																																						ENST00000451548.1																			0				lung(4)	4						c.(583-585)Cct>Gct		testis specific protein, Y-linked 1																																				SO:0001583	missense	7258				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9305927C>G		CCDS48205.1, CCDS76071.1	Yp11.2	2009-08-06	2004-04-05	2004-04-07					12381	protein-coding gene	gene with protein product	"""cancer/testis antigen 78"""	480100	"""testis specific protein, Y-linked"""	TSPY			Standard	NM_003308		Approved	CT78	uc004frw.4	Q01534		ENST00000451548.1:c.583C>G	Y.37:g.9305927C>G	ENSP00000403304:p.Pro195Ala					AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|AC006156.1_ENST00000423213.1_Intron	p.P195A	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN			3	629	+			195		P -> R.			A6NJD2|O00216|P09002|Q0VAD3|Q9UNN7	Missense_Mutation	SNP	ENST00000451548.1	37	c.583C>G	CCDS48205.1	.	.	.	.	.	.	.	.	.	.	.	2.940	-0.219210	0.06101	.	.	ENSG00000258992	ENST00000423647	T	0.26067	1.76	.	.	.	.	.	.	.	.	T	0.28034	0.0691	L	0.61036	1.89	.	.	.	D;D	0.89917	0.996;1.0	D;D	0.87578	0.966;0.998	T	0.07790	-1.0754	5	.	.	.	.	.	.	.	.	195;195	Q01534-2;Q01534	.;TSPY1_HUMAN	A	201	ENSP00000389324:P201A	.	P	+	1	0	TSPY1	9915927	0.217000	0.23597	0.000000	0.03702	0.000000	0.00434	0.684000	0.25364	0.000000	0.14550	0.000000	0.15137	CCT		0.443	TSPY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413463.1	NM_003308		20	139	0	0	0	0.00188189	0	20	139				
TINAG	27283	broad.mit.edu	37	6	54245333	54245333	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1258-1260)acA>acT		tubulointerstitial nephritis antigen							104.0	112.0	109.0					6																	54245333		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54245333A>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1260A>T	6.37:g.54245333A>T							p.T420T	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		10	1356	+	Lung NSC(77;0.0518)		420					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1260A>T	CCDS4955.1																																																																																				0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		4	11	0	0	0	0.00024832	0	4	11				
CACNG6	59285	broad.mit.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C	rs538013052	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P|CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736																																						ENST00000252729.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(43-45)cGg>cCg		calcium channel, voltage-dependent, gamma subunit 6							9.0	12.0	11.0					19																	54496175		1234	2522	3756	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54496175G>C	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.44G>C	19.37:g.54496175G>C	ENSP00000252729:p.Arg15Pro					CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	1	634	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		15						Missense_Mutation	SNP	ENST00000252729.2	37	c.44G>C	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.375982	0.61735	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.32753	1.46;1.44;1.46	2.97	2.97	0.34412	.	0.571192	0.15452	U	0.261622	T	0.37999	0.1024	N	0.24115	0.695	0.34679	D	0.724482	D;D;D	0.76494	0.994;0.999;0.998	P;D;D	0.85130	0.885;0.997;0.992	T	0.50083	-0.8869	10	0.59425	D	0.04	-15.2774	9.5302	0.39189	0.0:0.0:1.0:0.0	.	15;15;15	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	P	15	ENSP00000252729:R15P;ENSP00000319135:R15P;ENSP00000319097:R15P	ENSP00000252729:R15P	R	+	2	0	CACNG6	59187987	0.641000	0.27251	0.928000	0.36995	0.959000	0.62525	1.098000	0.31000	1.671000	0.50874	0.471000	0.43371	CGG		0.736	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			8	17	0	0	0	0.000157383	0	8	17				
PON2	5445	broad.mit.edu	37	7	95039308	95039308	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:95039308G>A	ENST00000222572.3	-	6	846	c.600C>T	c.(598-600)caC>caT	p.H200H	PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Silent_p.H221H			Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(661-663)caC>caT		paraoxonase 2							151.0	146.0	148.0					7																	95039308		2203	4300	6503	SO:0001819	synonymous_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039308G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.600C>T	7.37:g.95039308G>A						PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000222572.3_Silent_p.H200H|PON2_ENST00000483292.1_5'UTR	p.H221H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	846	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		200					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Silent	SNP	ENST00000222572.3	37	c.663C>T	CCDS5640.1																																																																																				0.373	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		23	54	0	0	0	0.00229938	0	23	54				
PGGT1B	5229	broad.mit.edu	37	5	114588910	114588910	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTAAGGAATCCAACATATCCA	0.363																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(181-183)ttG>ttA		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						121.0	121.0	121.0					5																	114588910		2202	4300	6502	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114588910C>T		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.183G>A	5.37:g.114588910C>T						PGGT1B_ENST00000379615.3_Silent_p.L61L	p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	2	203	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	61					Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.183G>A	CCDS4116.1																																																																																				0.363	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		11	50	0	0	0	0.00136819	0	11	50				
HOXB2	3212	broad.mit.edu	37	17	46620658	46620658	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(841-843)ggG>ggA		homeobox B2							13.0	17.0	16.0					17																	46620658		2081	4080	6161	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620658C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.843G>A	17.37:g.46620658C>T							p.G281G	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2010	-			281					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.843G>A	CCDS11527.1																																																																																				0.711	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			9	48	0	0	0	0.000274275	0	9	48				
CERK	64781	broad.mit.edu	37	22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(694-696)Cgg>Tgg		ceramide kinase							88.0	96.0	93.0					22																	47103761		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47103761G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.694C>T	22.37:g.47103761G>A	ENSP00000216264:p.Arg232Trp					CERK_ENST00000541677.1_Missense_Mutation_p.R34W	p.R232W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	806	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	232			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.694C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584448	0.46110	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.14266	2.52;2.52	5.01	-9.86	0.00473	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.90922	3.16	0.41100	D	0.98566	D	0.89917	1.0	D	0.76071	0.987	T	0.71272	-0.4642	10	0.72032	D	0.01	-33.8038	18.7241	0.91708	0.0:0.0:0.1476:0.8524	.	232	Q8TCT0	CERK1_HUMAN	W	232;34	ENSP00000216264:R232W;ENSP00000438659:R34W	ENSP00000216264:R232W	R	-	1	2	CERK	45482425	0.150000	0.22732	0.000000	0.03702	0.038000	0.13279	0.346000	0.19997	-1.127000	0.02925	-0.181000	0.13052	CGG		0.602	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	109	0	0	0	0.000566183	0	16	109				
CDCP1	64866	broad.mit.edu	37	3	45127378	45127378	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2263-2265)Ctg>Ttg		CUB domain containing protein 1							113.0	110.0	111.0					3																	45127378		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127378G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2263C>T	3.37:g.45127378G>A							p.L755L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2397	-			755					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.2263C>T	CCDS2727.1																																																																																				0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		71	41	0	0	0	0.000781405	0	71	41				
GRM3	2913	broad.mit.edu	37	7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACCTTGTTTTAGGGGGCCTG	0.413																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(121-123)tTa>tCa		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						100.0	104.0	103.0					7																	86394583		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394583T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.122T>C	7.37:g.86394583T>C	ENSP00000355316:p.Leu41Ser					GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000536043.1_Intron	p.L41S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			2	1221	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		41					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.122T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308306	0.81247	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.93452	0.7911	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.909	D	0.94330	0.7561	10	0.87932	D	0	.	14.4674	0.67492	0.0:0.0:0.0:1.0	.	41;41	G5E9K2;Q14832	.;GRM3_HUMAN	S	41;41;39;41;41	ENSP00000355316:L41S;ENSP00000398767:L41S;ENSP00000378209:L39S;ENSP00000390037:L41S;ENSP00000407490:L41S	ENSP00000355316:L41S	L	+	2	0	GRM3	86232519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	2.206000	0.71126	0.533000	0.62120	TTA		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			23	48	0	0	0	0.00229938	0	23	48				
TTYH2	94015	broad.mit.edu	37	17	72233624	72233624	+	Silent	SNP	C	C	T	rs563788375		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.001					ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(604-606)tcC>tcT		tweety family member 2							70.0	63.0	65.0					17																	72233624		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233624C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.606C>T	17.37:g.72233624C>T						TTYH2_ENST00000529107.1_Silent_p.S181S	p.S202S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			4	680	+			202					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.606C>T	CCDS32717.1																																																																																				0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			7	64	0	0	0	0.000157383	0	7	64				
FAM184A	79632	broad.mit.edu	37	6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1348-1350)aAg>aGg		family with sequence similarity 184, member A							84.0	79.0	81.0					6																	119338093		1803	4066	5869	SO:0001583	missense	79632							g.chr6:119338093T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1349A>G	6.37:g.119338093T>C	ENSP00000342604:p.Lys450Arg					FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R	p.K450R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1792	-			450					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1349A>G	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.91|11.91	1.780215|1.780215	0.31502|0.31502	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00360|.	7.86;7.86;7.86;7.86;7.86|.	4.94|4.94	3.76|3.76	0.43208|0.43208	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.16656|0.16656	0.425|0.425	0.44908|0.44908	D|D	0.997924|0.997924	B;B;B|.	0.10296|.	0.001;0.003;0.001|.	B;B;B|.	0.12156|.	0.005;0.004;0.007|.	T|T	0.05321|0.05321	-1.0892|-1.0892	10|5	0.09843|.	T|.	0.71|.	-18.0805|-18.0805	7.7618|7.7618	0.28957|0.28957	0.0:0.1941:0.0:0.8059|0.0:0.1941:0.0:0.8059	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	R|G	450;330;330;450;330|36	ENSP00000342604:K450R;ENSP00000326608:K330R;ENSP00000357460:K330R;ENSP00000430442:K450R;ENSP00000429826:K330R|.	ENSP00000342604:K450R|.	K|R	-|-	2|1	0|2	FAM184A|FAM184A	119379792|119379792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	3.408000|3.408000	0.52651|0.52651	1.876000|1.876000	0.54355|0.54355	0.402000|0.402000	0.26972|0.26972	AAG|AGA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	35	0	0	0	0.000673444	0	11	35				
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C	rs375815032	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:17611496G>C	ENST00000262102.6	-	2	2045	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						ENST00000381869.3																			2	Substitution - coding silent(2)	p.A607A(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1819-1821)gcC>gcG		microtubule associated tumor suppressor 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>G	8.37:g.17611496G>C						MTUS1_ENST00000262102.6_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2294	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>G	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		5	167	0	0	0	0.000602214	0	5	167				
FAM83H	286077	broad.mit.edu	37	8	144808544	144808544	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTACAAGGCGTTGGCCGTGG	0.692																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3085-3087)aaC>aaT		family with sequence similarity 83, member H							17.0	23.0	21.0					8																	144808544		2124	4233	6357	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808544G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3087C>T	8.37:g.144808544G>A							p.N1029N	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3212	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1029					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3087C>T	CCDS6410.2																																																																																				0.692	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		5	10	0	0	0	0.000602214	0	5	10				
OR4K5	79317	broad.mit.edu	37	14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(277-279)tCt>tAt		olfactory receptor, family 4, subfamily K, member 5							268.0	286.0	280.0					14																	20389043		2203	4299	6502	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389043C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.278C>A	14.37:g.20389043C>A	ENSP00000319511:p.Ser93Tyr						p.S93Y	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	303	+	all_cancers(95;0.00108)		93					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.278C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.08	3.298180	0.60195	.	.	ENSG00000176281	ENST00000315915	T	0.00745	5.75	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.07188	0.0182	H	0.95712	3.71	0.31163	N	0.704121	D	0.89917	1.0	D	0.70487	0.969	T	0.02232	-1.1191	10	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	93	Q8NGD3	OR4K5_HUMAN	Y	93	ENSP00000319511:S93Y	ENSP00000319511:S93Y	S	+	2	0	OR4K5	19458883	0.942000	0.31987	0.861000	0.33841	0.944000	0.59088	3.317000	0.51968	2.269000	0.75478	0.655000	0.94253	TCT		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		57	295	1	0	8.99859e-20	0.000781405	3.99032e-19	57	295				
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438																																						ENST00000502773.1																			1	Substitution - Missense(1)	p.E261K(1)	skin(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(781-783)Gaa>Aaa		platelet derived growth factor C							188.0	173.0	178.0					4																	157689065		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689065C>T	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.781G>A	4.37:g.157689065C>T	ENSP00000422464:p.Glu261Lys					PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K	p.E261K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1271	-	all_hematologic(180;0.24)	Renal(120;0.0458)	261					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.781G>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578593	0.96565	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.44083	2.41;0.94;0.93	5.35	5.35	0.76521	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.64567	1.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.63554	-0.6611	10	0.49607	T	0.09	-15.1184	19.0757	0.93161	0.0:1.0:0.0:0.0	.	106;261	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	K	261;98;106	ENSP00000422464:E261K;ENSP00000442943:E98K;ENSP00000439728:E106K	ENSP00000422464:E261K	E	-	1	0	PDGFC	157908515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.505000	0.84491	0.655000	0.94253	GAA		0.438	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			38	90	0	0	0	0.00148497	0	38	90				
JPH1	56704	broad.mit.edu	37	8	75227563	75227563	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(670-672)cgC>cgG		junctophilin 1							70.0	75.0	73.0					8																	75227563		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227563G>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.672C>G	8.37:g.75227563G>C							p.R224R	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	712	-	Breast(64;0.00576)		224					B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.672C>G	CCDS6217.1																																																																																				0.582	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	104	0	0	0	0.00136819	0	9	104				
PPAPDC1A	196051	broad.mit.edu	37	10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(346-348)Tgc>Agc		phosphatidic acid phosphatase type 2 domain containing 1A							93.0	92.0	93.0					10																	122280508		1879	4105	5984	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280508T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.346T>A	10.37:g.122280508T>A	ENSP00000381302:p.Cys116Ser					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000398248.1_Intron	p.C116S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	698	+		Lung NSC(174;0.1)|all_lung(145;0.132)	116					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.346T>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872719	0.91587	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.98;1.0	D	0.95765	0.8804	10	0.87932	D	0	-23.9746	16.0707	0.80928	0.0:0.0:0.0:1.0	.	116;116	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	S	116;116;116;106	ENSP00000381302:C116S;ENSP00000407979:C116S;ENSP00000440493:C116S;ENSP00000358069:C106S	ENSP00000358069:C106S	C	+	1	0	PPAPDC1A	122270498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	TGC		0.512	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		21	57	0	0	0	0.00188189	0	21	57				
GBGT1	26301	broad.mit.edu	37	9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:136037789C>T	ENST00000372040.3	-	2	322	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|RALGDS_ENST00000542690.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	4					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGCCAGTCTCCGGCGATGCAT	0.662																																						ENST00000542690.1										T					CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(10-12)cGg>cAg		ral guanine nucleotide dissociation stimulator							33.0	29.0	30.0					9																	136037789		2202	4297	6499	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136037789C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.11G>A	9.37:g.136037789C>T	ENSP00000361110:p.Arg4Gln					GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372040.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q	p.R4Q			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	2	291	-			0					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.11G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530024	0.13127	.	.	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.33865	1.76;2.13;5.0;5.01;1.39;1.47	2.6	-5.2	0.02823	.	4.129620	0.00909	N	0.002451	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26708	0.157;0.0;0.0;0.157	B;B;B;B	0.15052	0.007;0.0;0.001;0.012	T	0.07986	-1.0744	10	0.42905	T	0.14	-9.577	1.775	0.03019	0.1158:0.4005:0.2319:0.2519	.	4;4;4;4	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	Q	4	ENSP00000437518:R4Q;ENSP00000361113:R4Q;ENSP00000361110:R4Q;ENSP00000437663:R4Q;ENSP00000361108:R4Q;ENSP00000361106:R4Q	ENSP00000361106:R4Q	R	-	2	0	GBGT1;RALGDS	135027610	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.988000	0.01482	-2.968000	0.00287	-0.657000	0.03884	CGG		0.662	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		5	15	0	0	0	0.00116845	0	5	15				
IKZF2	22807	broad.mit.edu	37	2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:213878608T>C	ENST00000434687.1	-	8	1072	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000457361.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V|IKZF2_ENST00000421754.2_Intron|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(763-765)Att>Gtt		IKAROS family zinc finger 2 (Helios)							129.0	127.0	128.0					2																	213878608		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878608T>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.763A>G	2.37:g.213878608T>C	ENSP00000412869:p.Ile255Val					IKZF2_ENST00000434687.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V	p.I255V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	931	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	255					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.763A>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701555	0.48307	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.14144	3.27;3.23;3.27;3.31;3.34;2.53	5.4	5.4	0.78164	.	0.068551	0.64402	D	0.000011	T	0.14141	0.0342	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.004;0.001;0.0;0.001	T	0.03608	-1.1020	10	0.33940	T	0.23	-0.3349	11.6754	0.51427	0.0:0.0:0.1479:0.8521	.	183;110;229;255;33	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	V	255;261;255;229;183;110	ENSP00000410447:I255V;ENSP00000342876:I261V;ENSP00000412869:I255V;ENSP00000363439:I229V;ENSP00000395203:I183V;ENSP00000363447:I110V	ENSP00000342876:I261V	I	-	1	0	IKZF2	213586853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	2.171000	0.68590	0.459000	0.35465	ATT		0.388	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		38	70	0	0	0	0.00148497	0	38	70				
ADCYAP1R1	117	broad.mit.edu	37	7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(496-498)gTc>gAc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							292.0	215.0	241.0					7																	31124410		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124410T>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.497T>A	7.37:g.31124410T>A	ENSP00000306620:p.Val166Asp					ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D	p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			8	786	+			166					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.497T>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492594	0.84962	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.52057	1.0;0.97;0.68;0.68	5.8	4.62	0.57501	GPCR, family 2-like (1);	0.064020	0.64402	D	0.000009	T	0.68293	0.2985	M	0.85197	2.74	0.80722	D	1	P;P;P;B;B	0.48503	0.612;0.738;0.911;0.425;0.425	P;P;D;P;P	0.63793	0.698;0.776;0.918;0.629;0.721	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.2984	0.43637	0.0:0.0786:0.0:0.9214	.	166;166;166;145;166	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	D	166;145;166;166	ENSP00000306620:V166D;ENSP00000387335:V145D;ENSP00000379514:V166D;ENSP00000386395:V166D	ENSP00000306620:V166D	V	+	2	0	ADCYAP1R1	31090935	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	5.100000	0.64560	0.978000	0.38470	0.533000	0.62120	GTC		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		30	79	0	0	0	0.000814825	0	30	79				
HEATR1	55127	broad.mit.edu	37	1	236714247	236714247	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(6388-6390)caG>caA		HEAT repeat containing 1							136.0	135.0	136.0					1																	236714247		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236714247C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6390G>A	1.37:g.236714247C>T						LGALS8_ENST00000366584.4_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q|LGALS8_ENST00000526589.1_3'UTR	p.Q2130Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		45	6504	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2130					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.6390G>A	CCDS31066.1																																																																																				0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		30	38	0	0	0	0.0024448	0	30	38				
HEPHL1	341208	broad.mit.edu	37	11	93806191	93806191	+	Splice_Site	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1233T>G	c.(1231-1233)agT>agG	p.S411R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.e7-1		hephaestin-like 1							66.0	62.0	63.0					11																	93806191		1883	4110	5993	SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93806191T>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1233-1T>G	11.37:g.93806191T>G							p.S411_splice	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			7	1241	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	411			Plastocyanin-like 3.		Q3C1W7	Splice_Site	SNP	ENST00000315765.9	37	c.1232_splice	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419111	0.62622	.	.	ENSG00000181333	ENST00000315765	D	0.99005	-5.32	5.66	3.37	0.38596	Cupredoxin (2);	0.124872	0.64402	D	0.000001	D	0.97782	0.9272	L	0.56280	1.765	0.40428	D	0.979911	P	0.45569	0.861	P	0.48189	0.57	D	0.95651	0.8707	9	.	.	.	.	8.1937	0.31383	0.0:0.2164:0.0:0.7836	.	411	Q6MZM0	HPHL1_HUMAN	R	411	ENSP00000313699:S411R	.	S	+	3	2	HEPHL1	93445839	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.027000	0.30115	0.440000	0.26502	0.528000	0.53228	AGT		0.368	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Missense_Mutation	8	21	0	0	0	0.000274275	0	8	21				
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000545297.1_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.S49S	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(145-147)agC>agT		surfeit 4							119.0	95.0	103.0					9																	136234223		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234223G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.147C>T	9.37:g.136234223G>A						SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000545297.1_Silent_p.S49S	p.S49S	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	276	-			49					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.147C>T	CCDS6968.1																																																																																				0.597	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		22	25	0	0	0	0.00278032	0	22	25				
MAN2A2	4122	broad.mit.edu	37	15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:91455444A>C	ENST00000559717.1	+	15	2740	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.S761R			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2281-2283)Agc>Cgc		mannosidase, alpha, class 2A, member 2							91.0	87.0	88.0					15																	91455444		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455444A>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2281A>C	15.37:g.91455444A>C	ENSP00000452948:p.Ser761Arg					MAN2A2_ENST00000559717.1_Missense_Mutation_p.S761R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R	p.S761R	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2299	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		761					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2281A>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	5.702	0.314075	0.10789	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83335	-1.71;-1.71	5.19	1.67	0.24075	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.584363	0.20394	N	0.093193	T	0.72120	0.3421	L	0.42245	1.32	0.19300	N	0.999978	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.19666	0.026;0.004;0.016	T	0.54186	-0.8331	10	0.19147	T	0.46	-4.7035	6.3158	0.21190	0.5602:0.0:0.4398:0.0	.	269;389;761	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	R	761;269	ENSP00000353655:S761R;ENSP00000388221:S269R	ENSP00000353655:S761R	S	+	1	0	MAN2A2	89256448	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.040000	0.13905	0.327000	0.23409	0.374000	0.22700	AGC		0.637	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		30	66	0	0	0	0.00127121	0	30	66				
PPP1R3A	5506	broad.mit.edu	37	7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2164-2166)Act>Gct		protein phosphatase 1, regulatory subunit 3A							176.0	170.0	172.0					7																	113518983		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518983T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2164A>G	7.37:g.113518983T>C	ENSP00000284601:p.Thr722Ala						p.T722A	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2232	-			722					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2164A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319893	0.41096	.	.	ENSG00000154415	ENST00000284601	T	0.21361	2.01	6.01	0.802	0.18686	.	0.481828	0.21155	N	0.079251	T	0.18718	0.0449	M	0.66939	2.045	0.25387	N	0.988568	P	0.52316	0.952	B	0.41860	0.368	T	0.19582	-1.0301	10	0.72032	D	0.01	-2.3231	3.0877	0.06283	0.1102:0.1274:0.1287:0.6337	.	722	Q16821	PPR3A_HUMAN	A	722	ENSP00000284601:T722A	ENSP00000284601:T722A	T	-	1	0	PPP1R3A	113306219	1.000000	0.71417	0.903000	0.35520	0.718000	0.41266	1.044000	0.30329	-0.081000	0.12662	-0.297000	0.09499	ACT		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	139	0	0	0	0.00024832	0	3	139				
NXPE3	91775	broad.mit.edu	37	3	101535734	101535734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:101535734C>T	ENST00000491511.2	+	7	1974	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	NXPE3_ENST00000422132.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	340						extracellular region (GO:0005576)											TAAGATGCGTCAGTTTAATGA	0.393																																						ENST00000422132.1																			0											c.(1018-1020)Cag>Tag		neurexophilin and PC-esterase domain family, member 3							142.0	139.0	140.0					3																	101535734		2203	4300	6503	SO:0001587	stop_gained	91775							g.chr3:101535734C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1018C>T	3.37:g.101535734C>T	ENSP00000417485:p.Gln340*					NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000491511.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*	p.Q340*							4	1215	+								A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	ENST00000491511.2	37	c.1018C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	46	12.144701	0.99640	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	5.71	5.71	0.89125	.	0.205125	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.5368	16.4748	0.84129	0.1316:0.8684:0.0:0.0	.	.	.	.	X	340	.	ENSP00000273347:Q340X	Q	+	1	0	FAM55C	103018424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.022000	0.70839	2.861000	0.98227	0.650000	0.86243	CAG		0.393	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		7	92	0	0	0	0.00198382	0	7	92				
C11orf84	144097	broad.mit.edu	37	11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(175-177)gCa>gAa		chromosome 11 open reading frame 84							40.0	35.0	36.0					11																	63585325		2201	4297	6498	SO:0001583	missense	144097							g.chr11:63585325C>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.176C>A	11.37:g.63585325C>A	ENSP00000294244:p.Ala59Glu						p.A59E	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			2	475	+			59					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.176C>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438343	0.62955	.	.	ENSG00000168005	ENST00000294244	T	0.46063	0.88	5.24	3.26	0.37387	.	1.177730	0.06190	N	0.681107	T	0.35307	0.0927	L	0.51422	1.61	0.09310	N	0.999991	P	0.36837	0.571	B	0.29598	0.104	T	0.35201	-0.9798	10	0.87932	D	0	-3.2663	6.509	0.22212	0.0:0.7201:0.1828:0.0971	.	59	Q9BUA3	CK084_HUMAN	E	59	ENSP00000294244:A59E	ENSP00000294244:A59E	A	+	2	0	C11orf84	63341901	0.524000	0.26282	0.570000	0.28473	0.015000	0.08874	1.277000	0.33167	1.233000	0.43693	0.561000	0.74099	GCA		0.637	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		4	12	1	0	2.56e-06	0.00024832	9.95556e-06	4	12				
OXGR1	27199	broad.mit.edu	37	13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(259-261)cCc>cAc		oxoglutarate (alpha-ketoglutarate) receptor 1							81.0	75.0	77.0					13																	97639754		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639754G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.260C>A	13.37:g.97639754G>T	ENSP00000298440:p.Pro87His					OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	503	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		87					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.260C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447453	0.84101	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.73897	-0.79;-0.79	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.85945	2.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89519	0.3777	10	0.87932	D	0	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	87	Q96P68	OXGR1_HUMAN	H	87	ENSP00000298440:P87H;ENSP00000438800:P87H	ENSP00000298440:P87H	P	-	2	0	OXGR1	96437755	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	CCC		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		10	16	1	0	2.17888e-05	0.000442599	8.30856e-05	10	16				
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:11141507G>T	ENST00000429416.3	+	26	3765	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3484-3486)Ggc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							24.0	25.0	25.0					19																	11141507		2197	4297	6494	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141507G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3484G>T	19.37:g.11141507G>T	ENSP00000395654:p.Gly1162Cys					SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C	p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3768	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1162			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3484G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591560	0.86953	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98581	1.0650	10	0.87932	D	0	-37.1265	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1162;1162;1162;1162;1162;382;1162;1162	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	1162;1162;1226;1162;1162;1162;1162;1162	ENSP00000395654:G1162C;ENSP00000350720:G1162C;ENSP00000343896:G1162C;ENSP00000445036:G1162C;ENSP00000392837:G1162C;ENSP00000397783:G1162C;ENSP00000414727:G1162C	ENSP00000343896:G1162C	G	+	1	0	SMARCA4	11002507	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGC		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	7	1	0	3.59834e-05	0.00116845	0.000136153	6	7				
BTRC	8945	broad.mit.edu	37	10	103291078	103291078	+	Silent	SNP	A	A	T	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000393441.4_Silent_p.I235I|BTRC_ENST00000408038.2_Silent_p.I240I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(826-828)atA>atT		beta-transducin repeat containing E3 ubiquitin protein ligase							72.0	79.0	77.0					10																	103291078		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103291078A>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.828A>T	10.37:g.103291078A>T						BTRC_ENST00000393441.4_Silent_p.I235I|BTRC_ENST00000408038.2_Silent_p.I240I	p.I276I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	7	946	+		Colorectal(252;0.234)	276					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.828A>T	CCDS7512.1																																																																																				0.368	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		24	50	0	0	0	0.00278032	0	24	50				
KRTAP19-7	337974	broad.mit.edu	37	21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552																																						ENST00000334849.2																			0				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						c.(43-45)tGt>tAt		keratin associated protein 19-7							131.0	115.0	120.0					21																	31933565		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933565C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.44G>A	21.37:g.31933565C>T	ENSP00000334696:p.Cys15Tyr						p.C15Y	NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN			1	68	-			15					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.44G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	0.092	-1.165832	0.01673	.	.	ENSG00000244362	ENST00000334849	T	0.09073	3.02	3.62	-7.24	0.01475	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41893	-0.9483	8	0.87932	D	0	.	4.6685	0.12676	0.4057:0.3837:0.0:0.2105	.	15	Q3SYF9	KR197_HUMAN	Y	15	ENSP00000334696:C15Y	ENSP00000334696:C15Y	C	-	2	0	KRTAP19-7	30855436	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.673000	0.01951	-1.856000	0.01161	-0.708000	0.03648	TGT		0.552	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			23	75	0	0	0	0.00278032	0	23	75				
ZEB2	9839	broad.mit.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			1	Substitution - Missense(1)	p.P893S(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2677-2679)Cct>Tct		zinc finger E-box binding homeobox 2							168.0	160.0	162.0					2																	145156077		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156077G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2677C>T	2.37:g.145156077G>A	ENSP00000454157:p.Pro893Ser					ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S	p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3861	-			893					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2677C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067176	0.55539	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14766	2.52;2.48;2.48	5.96	5.08	0.68730	.	0.092903	0.85682	D	0.000000	T	0.34454	0.0898	M	0.68593	2.085	0.80722	D	1	D;B;P;P	0.76494	0.999;0.104;0.798;0.798	P;B;B;B	0.62885	0.908;0.081;0.3;0.3	T	0.12116	-1.0560	10	0.72032	D	0.01	-1.6034	16.3329	0.83049	0.0:0.0:0.8604:0.1396	.	869;758;892;893	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	869;893;893	ENSP00000443792:P869S;ENSP00000302501:P893S;ENSP00000386854:P893S	ENSP00000302501:P893S	P	-	1	0	ZEB2	144872547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	1.489000	0.48450	0.655000	0.94253	CCT		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	177	0	0	0	0.000673444	0	9	177				
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:37881982G>A	ENST00000269571.5	+	23	2907	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.M886I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	GGGAGCTGATGACTTTTGGGG	0.602		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"""		0				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.(2656-2658)atG>atA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						114.0	93.0	100.0					17																	37881982		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.chr17:37881982G>A	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.2748G>A	17.37:g.37881982G>A	ENSP00000269571:p.Met916Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I	p.M886I	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)	25	3168	+	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)	916			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2658G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295345	0.60086	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81749	0.4888	N	0.11106	0.095	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.81914	0.964;0.995;0.974	D	0.85988	0.1487	9	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	640;901;916	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	886;901;640;916;886	ENSP00000385185:M886I;ENSP00000446466:M901I;ENSP00000404047:M640I;ENSP00000269571:M916I;ENSP00000443562:M886I	ENSP00000269571:M916I	M	+	3	0	ERBB2	35135508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	ATG		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	64	0	0	0	0.00116845	0	6	64				
PLEKHN1	84069	broad.mit.edu	37	1	906364	906364	+	Missense_Mutation	SNP	G	G	A	rs370898773	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736													G|||	2	0.000399361	0.0	0.0014	5008	,	,		10953	0.001		0.0	False		,,,				2504	0.0					ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(709-711)cGc>cAc		pleckstrin homology domain containing, family N member 1		G	HIS/ARG,HIS/ARG	2,3696		0,2,1847	5.0	8.0	7.0		590,590	0.2	0.1	1		7	1,7731		0,1,3865	no	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	29,29	0,3,5712	AA,AG,GG		0.0129,0.0541,0.0262	benign,benign	197/577,197/612	906364	3,11427	1849	3866	5715	SO:0001583	missense	84069							g.chr1:906364G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.710G>A	1.37:g.906364G>A	ENSP00000368719:p.Arg237His					PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R197H	p.R237H			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	740	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	237					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.710G>A		.	.	.	.	.	.	.	.	.	.	G	1.703	-0.501032	0.04261	5.41E-4	1.29E-4	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.46451	0.87;0.95;0.9	4.4	0.243	0.15503	.	1.285040	0.05166	N	0.498738	T	0.38081	0.1027	L	0.47716	1.5	0.20975	N	0.999816	B;B;B	0.15930	0.0;0.015;0.003	B;B;B	0.09377	0.001;0.004;0.001	T	0.33163	-0.9879	10	0.41790	T	0.15	.	10.0715	0.42337	0.3295:0.0:0.6705:0.0	.	197;237;197	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	H	197;197;237	ENSP00000368720:R197H;ENSP00000368717:R197H;ENSP00000368719:R237H	ENSP00000368717:R197H	R	+	2	0	PLEKHN1	896227	0.000000	0.05858	0.100000	0.21137	0.004000	0.04260	-1.298000	0.02756	-0.372000	0.07992	-1.688000	0.00730	CGC		0.736	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	10	0	0	0	0.00116845	0	5	10				
NCAPG2	54892	broad.mit.edu	37	7	158449250	158449250	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:158449250C>T	ENST00000409423.1	-	19	2380	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000409339.3_Silent_p.Q736Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2206-2208)caG>caA		non-SMC condensin II complex, subunit G2							57.0	60.0	59.0					7																	158449250		1987	4174	6161	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158449250C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2208G>A	7.37:g.158449250C>T						NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000409423.1_Silent_p.Q736Q	p.Q736Q			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	18	2321	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	736					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2208G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.473975	0.01044	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.63	0.489	0.16854	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28870	-1.0030	4	.	.	.	-9.0942	10.5998	0.45360	0.0:0.4706:0.0:0.5294	.	.	.	.	K	538	.	.	R	-	2	0	NCAPG2	158142011	0.041000	0.20044	0.001000	0.08648	0.014000	0.08584	0.143000	0.16115	-0.142000	0.11354	-0.140000	0.14226	AGG		0.468	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		7	55	0	0	0	0.00198382	0	7	55				
TEX13A	56157	broad.mit.edu	37	X	104464103	104464103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:104464103G>T	ENST00000413579.1	-	5	884	c.773C>A	c.(772-774)aCc>aAc	p.T258N	TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.P259T			Q9BXU3	TX13A_HUMAN	testis expressed 13A	258							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(775-777)Cct>Act		testis expressed 13A							59.0	59.0	59.0					X																	104464103		1979	4142	6121	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464103G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.773C>A	X.37:g.104464103G>T	ENSP00000399753:p.Thr258Asn					IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|TEX13A_ENST00000413579.1_Missense_Mutation_p.T258N	p.P259T	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	886	-			0					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.775C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.084301|2.084301	0.36758|0.36758	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	1.5|1.5	0.22942|0.22942	.|.	.|0.747973	.|0.10944	.|N	.|0.616872	T|T	0.32164|0.32164	0.0820|0.0820	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|B	.|0.34290	.|0.447	.|B	.|0.25759	.|0.063	T|T	0.12066|0.12066	-1.0562|-1.0562	6|9	0.87932|0.38643	D|T	0|0.18	.|.	7.2035|7.2035	0.25895|0.25895	0.0:0.0:0.5187:0.4813|0.0:0.0:0.5187:0.4813	.|.	.|258	.|Q9BXU3	.|TX13A_HUMAN	T|N	259|258	.|.	ENSP00000361656:P259T|ENSP00000399753:T258N	P|T	-|-	1|2	0|0	TEX13A|TEX13A	104350759|104350759	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.723000|0.723000	0.25939|0.25939	0.244000|0.244000	0.21351|0.21351	0.513000|0.513000	0.50165|0.50165	CCT|ACC		0.562	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		15	5	1	0	1.15088e-07	0.000422831	4.52956e-07	15	5				
HOXC9	3225	broad.mit.edu	37	12	54396248	54396248	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(571-573)tcC>tcA		homeobox C9							75.0	80.0	78.0					12																	54396248		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396248C>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.573C>A	12.37:g.54396248C>A						HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR	p.S191S	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			2	643	+			191					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.573C>A	CCDS8869.1																																																																																				0.567	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			6	109	1	0	5.18039e-06	0.000157383	2.00663e-05	6	109				
TARDBP	23435	broad.mit.edu	37	1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(910-912)Ggt>Agt		TAR DNA binding protein							80.0	77.0	78.0					1																	11082376		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082376G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.910G>A	1.37:g.11082376G>A	ENSP00000240185:p.Gly304Ser					TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S	p.G304S	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	1024	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	304			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.910G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824311	0.71143	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.91237	-2.81;-2.81	5.81	5.81	0.92471	.	0.128561	0.64402	D	0.000001	D	0.92519	0.7624	L	0.31926	0.97	0.80722	D	1	D;B	0.89917	1.0;0.02	D;B	0.75484	0.986;0.014	D	0.89565	0.3809	10	0.20519	T	0.43	-15.4605	20.0825	0.97783	0.0:0.0:1.0:0.0	.	188;304	B4DJ45;Q13148	.;TADBP_HUMAN	S	304;188	ENSP00000240185:G304S;ENSP00000404666:G188S	ENSP00000240185:G304S	G	+	1	0	TARDBP	11004963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.326000	0.59241	2.746000	0.94184	0.655000	0.94253	GGT		0.498	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		6	60	0	0	0	0.00198382	0	6	60				
TMEM168	64418	broad.mit.edu	37	7	112407741	112407741	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:112407741G>C	ENST00000312814.6	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1603-1605)tcC>tcG		transmembrane protein 168							64.0	64.0	64.0					7																	112407741		2203	4300	6503	SO:0001819	synonymous_variant	64418					integral to membrane|transport vesicle		g.chr7:112407741G>C		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1605C>G	7.37:g.112407741G>C						TMEM168_ENST00000454074.1_Silent_p.S535S	p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			5	2165	-			535					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	c.1605C>G	CCDS5757.1																																																																																				0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		17	41	0	0	0	0.000566183	0	17	41				
GLB1	2720	broad.mit.edu	37	3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:33059966C>T	ENST00000399402.3	-	13	1362	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000307363.5_Missense_Mutation_p.D441N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	441					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM064028	GLB1	M		c.(1321-1323)Gat>Aat		galactosidase, beta 1							156.0	153.0	154.0					3																	33059966		1975	4167	6142	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33059966C>T	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1231G>A	3.37:g.33059966C>T	ENSP00000382333:p.Asp411Asn					GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000399402.3_Missense_Mutation_p.D411N|GLB1_ENST00000307377.8_Missense_Mutation_p.D310N	p.D441N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			13	1465	-		Melanoma(143;0.104)	441		D -> N (in GM1G1).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1321G>A	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329556	0.81690	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	H	0.97415	4	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;0.999;0.999;1.0	D	0.99741	1.1015	10	0.87932	D	0	-26.1881	17.8915	0.88874	0.0:1.0:0.0:0.0	.	441;310;441;489	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	N	411;441;489;310	ENSP00000382333:D411N;ENSP00000306920:D441N;ENSP00000393377:D489N;ENSP00000305920:D310N	ENSP00000306920:D441N	D	-	1	0	GLB1	33034970	1.000000	0.71417	0.803000	0.32268	0.300000	0.27592	6.893000	0.75649	2.514000	0.84764	0.585000	0.79938	GAT		0.507	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		16	70	0	0	0	0.00074312	0	16	70				
GHSR	2693	broad.mit.edu	37	3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	GRCh37	CM077844	GHSR	M		c.(478-480)Gtg>Atg		growth hormone secretagogue receptor							56.0	56.0	56.0					3																	172165726		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165726C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.478G>A	3.37:g.172165726C>T	ENSP00000241256:p.Val160Met					GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	520	-	Ovarian(172;0.00143)|Breast(254;0.197)		160					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.478G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801426	0.90538	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.39056	1.1;1.1	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78597	-0.2142	10	0.87932	D	0	-21.9123	19.5728	0.95428	0.0:1.0:0.0:0.0	.	160;160	Q92847-2;Q92847	.;GHSR_HUMAN	M	160	ENSP00000241256:V160M;ENSP00000395344:V160M	ENSP00000241256:V160M	V	-	1	0	GHSR	173648420	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.786000	0.85741	2.636000	0.89361	0.455000	0.32223	GTG		0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		6	53	0	0	0	0.00116845	0	6	53				
PIWIL3	440822	broad.mit.edu	37	22	25131809	25131809	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1498-1500)ccC>ccT		piwi-like RNA-mediated gene silencing 3							204.0	199.0	201.0					22																	25131809		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131809G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1500C>T	22.37:g.25131809G>A						PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR	p.P500P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			13	1916	-			500						Silent	SNP	ENST00000332271.5	37	c.1500C>T	CCDS33623.1																																																																																				0.383	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		39	103	0	0	0	0.00111076	0	39	103				
PCDHA5	56143	broad.mit.edu	37	5	140202653	140202653	+	Silent	SNP	G	G	A	rs374495677		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1291-1293)tcG>tcA				G	,,,,,,	0,4406		0,0,2203	76.0	82.0	80.0		,,,,1293,,1293	-1.1	0.9	5		80	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,431/937,,431/817	140202653	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56143							g.chr5:140202653G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1293G>A	5.37:g.140202653G>A						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.S431S	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1293G>A	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		12	150	0	0	0	0.000978159	0	12	150				
FAT3	120114	broad.mit.edu	37	11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGTTAGCCCTTTGGATTA	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6733-6735)Cct>Tct		FAT atypical cadherin 3							66.0	61.0	62.0					11																	92532912		1902	4122	6024	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532912C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6733C>T	11.37:g.92532912C>T	ENSP00000298047:p.Pro2245Ser	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S	p.P2245S			Q8TDW7	FAT3_HUMAN			9	6750	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2245			Cadherin 20.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6733C>T		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551089	0.45383	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.54675	0.56;0.56;0.56	5.94	5.94	0.96194	.	.	.	.	.	T	0.49270	0.1547	L	0.38953	1.18	0.80722	D	1	B	0.29766	0.256	B	0.33295	0.161	T	0.34254	-0.9836	9	0.31617	T	0.26	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	2245	Q8TDW7-3	.	S	2245;2245;2095	ENSP00000298047:P2245S;ENSP00000387040:P2245S;ENSP00000432586:P2095S	ENSP00000298047:P2245S	P	+	1	0	FAT3	92172560	0.964000	0.33143	1.000000	0.80357	0.996000	0.88848	1.541000	0.36126	2.820000	0.97059	0.650000	0.86243	CCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	16	0	0	0	0.00198382	0	7	16				
MDN1	23195	broad.mit.edu	37	6	90384310	90384310	+	Splice_Site	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		MDN1_ENST00000428876.1_Splice_Site|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e79-2		MDN1, midasin homolog (yeast)							32.0	36.0	35.0					6																	90384310		2117	4128	6245	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384310T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12762-2A>G	6.37:g.90384310T>C						RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Splice_Site				Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	12877	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)						O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219520	0.79464	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90441031	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.963000	0.76055	2.203000	0.70933	0.533000	0.62120	.		0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Intron	13	32	0	0	0	0.00244969	0	13	32				
FLNA	2316	broad.mit.edu	37	X	153588903	153588903	+	Missense_Mutation	SNP	C	C	T	rs369668866		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:153588903C>T	ENST00000369850.3	-	22	3496	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000422373.1_Missense_Mutation_p.R1087H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1087					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATGGTGAAGCGGGCGGGGGA	0.692											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3259-3261)cGc>cAc		filamin A, alpha			HIS/ARG,HIS/ARG	1,3302		0,1,1367,567	23.0	26.0	25.0		3260,3260	4.2	1.0	X		25	0,6433		0,0,2327,1779	no	missense,missense	FLNA	NM_001456.3,NM_001110556.1	29,29	0,1,3694,2346	TT,TC,CC,C		0.0,0.0303,0.0103	benign,benign	1087/2640,1087/2648	153588903	1,9735	1935	4106	6041	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588903C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3260G>A	X.37:g.153588903C>T	ENSP00000358866:p.Arg1087His		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000369850.3_Missense_Mutation_p.R1087H|FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H	p.R1087H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3508	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1087					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3260G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077126	0.36662	3.03E-4	0.0	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.06	4.18	0.49190	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.228496	0.35708	N	0.003024	T	0.77505	0.4140	L	0.28274	0.84	0.80722	D	1	B;B	0.30664	0.289;0.002	B;B	0.38921	0.285;0.005	T	0.76138	-0.3069	10	0.56958	D	0.05	.	6.5514	0.22436	0.0:0.4161:0.4598:0.1241	.	1087;1087	P21333-2;P21333	.;FLNA_HUMAN	H	1087;1060;1087;1087;1087	ENSP00000353467:R1087H;ENSP00000416926:R1087H;ENSP00000358866:R1087H;ENSP00000358863:R1087H	ENSP00000358863:R1087H	R	-	2	0	FLNA	153242097	0.023000	0.18921	1.000000	0.80357	0.875000	0.50365	0.424000	0.21330	2.104000	0.64026	0.525000	0.51046	CGC		0.692	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	14	0	0	0	0.000602214	0	5	14				
PCDHA8	56140	broad.mit.edu	37	5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	Cadherin 5. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1435-1437)gCg>gTg									43.0	48.0	46.0					5																	140222342		2192	4260	6452	SO:0001583	missense	56140							g.chr5:140222342C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1436C>T	5.37:g.140222342C>T	ENSP00000434655:p.Ala479Val					PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.A479V	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1436C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551665	0.65311	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.59364	0.27;0.27	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.80539	0.4642	M	0.91090	3.175	0.45676	D	0.998595	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86420	0.1754	10	0.87932	D	0	.	15.9202	0.79556	0.0:1.0:0.0:0.0	.	479;479	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	479	ENSP00000434655:A479V;ENSP00000367363:A479V	ENSP00000367363:A479V	A	+	2	0	PCDHA8	140202526	1.000000	0.71417	0.072000	0.20136	0.038000	0.13279	5.798000	0.69095	1.790000	0.52503	0.306000	0.20318	GCG		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		32	18	0	0	0	0.000692331	0	32	18				
C8B	732	broad.mit.edu	37	1	57422503	57422503	+	Silent	SNP	A	A	G	rs545739274		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:57422503A>G	ENST00000371237.4	-	3	396	c.330T>C	c.(328-330)tgT>tgC	p.C110C	C8B_ENST00000535057.1_Silent_p.C48C|C8B_ENST00000543257.1_Silent_p.C58C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20354	0.0		0.0	False		,,,				2504	0.0					ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(172-174)tgT>tgC		complement component 8, beta polypeptide							291.0	269.0	277.0					1																	57422503		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422503A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.330T>C	1.37:g.57422503A>G						C8B_ENST00000535057.1_Silent_p.C48C|C8B_ENST00000371237.4_Silent_p.C110C	p.C58C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	740	-			110					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.174T>C	CCDS30730.1																																																																																				0.498	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			28	222	0	0	0	0.00127121	0	28	222				
PBRM1	55193	broad.mit.edu	37	3	52637658	52637658	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:52637658A>G	ENST00000296302.7	-	17	2659	c.2658T>C	c.(2656-2658)ctT>ctC	p.L886L	PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000356770.4_Silent_p.L854L|PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2560-2562)ctT>ctC		polybromo 1							79.0	75.0	76.0					3																	52637658		2203	4299	6502	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637658A>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2658T>C	3.37:g.52637658A>G						PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000296302.7_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L	p.L854L			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2564	-			886			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.2562T>C																																																																																					0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		9	29	0	0	0	0.000274275	0	9	29				
NADK	65220	broad.mit.edu	37	1	1685535	1685535	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:1685535C>T	ENST00000341426.5	-	10	1277	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000378625.1_Silent_p.S497S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000344463.4_Silent_p.S497S	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	352					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGAAGGACAGCGAGTGGGGGC	0.662																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1489-1491)tcG>tcA		NAD kinase							54.0	66.0	62.0					1																	1685535		2203	4300	6503	SO:0001819	synonymous_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685535C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1056G>A	1.37:g.1685535C>T						NADK_ENST00000341426.5_Silent_p.S352S|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000378625.1_Silent_p.S497S	p.S497S			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	12	1712	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	352					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.1491G>A	CCDS30565.1																																																																																				0.662	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		9	77	0	0	0	0.000978159	0	9	77				
MAPKBP1	23005	broad.mit.edu	37	15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:42107957G>C	ENST00000456763.2	+	13	1667	c.1471G>C	c.(1471-1473)Gga>Cga	p.G491R	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G485R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1453-1455)Gga>Cga		mitogen-activated protein kinase binding protein 1							83.0	74.0	77.0					15																	42107957		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107957G>C	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1471G>C	15.37:g.42107957G>C	ENSP00000393099:p.Gly491Arg					MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G491R	p.G485R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1739	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	491					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1453G>C	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	35	5.483396	0.96307	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.72167	1.13;-0.42;0.39;-0.63;0.39	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048414	0.85682	D	0.000000	D	0.87569	0.6210	M	0.88310	2.945	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;0.988;1.0;0.999	D	0.88611	0.3156	10	0.66056	D	0.02	-5.1434	20.1081	0.97899	0.0:0.0:1.0:0.0	.	324;485;491;485	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	R	485;368;324;491;485	ENSP00000397570:G485R;ENSP00000221214:G368R;ENSP00000260357:G324R;ENSP00000393099:G491R;ENSP00000426154:G485R	ENSP00000221214:G368R	G	+	1	0	MAPKBP1	39895249	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.866000	0.99616	2.764000	0.94973	0.555000	0.69702	GGA		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		10	26	0	0	0	0.000673444	0	10	26				
FGFR4	2264	broad.mit.edu	37	5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GCATGGAGAAGAAACTGCATG	0.612										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(469-471)aaG>aaC		fibroblast growth factor receptor 4	Palifermin(DB00039)						88.0	72.0	77.0					5																	176517973		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517973G>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.471G>C	5.37:g.176517973G>C	ENSP00000292408:p.Lys157Asn	TSP Lung(9;0.080)				FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N	p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	716	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157			Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.471G>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223662	0.79576	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.72167	1.58;-0.63;1.58;1.58;1.58;1.58	4.74	3.87	0.44632	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	L	0.41906	1.305	0.51012	D	0.999906	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	T	0.76369	-0.2984	10	0.46703	T	0.11	.	12.4733	0.55799	0.0817:0.0:0.9183:0.0	.	157;157;157;157	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	N	157;157;157;157;157;157;269	ENSP00000292408:K157N;ENSP00000424905:K157N;ENSP00000377259:K157N;ENSP00000424960:K157N;ENSP00000292410:K157N;ENSP00000377254:K157N	ENSP00000292408:K157N	K	+	3	2	FGFR4	176450579	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.923000	0.56469	1.230000	0.43646	0.561000	0.74099	AAG		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	48	0	0	0	0.000602214	0	5	48				
KIR3DL1	3811	broad.mit.edu	37	19	55294944	55294944	+	Intron	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:55294944C>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A275V|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(823-825)gCg>gTg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							131.0	132.0	132.0					19																	55294944		2170	4191	6361	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294944C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34045C>T	19.37:g.55294944C>T						CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|KIR2DL4_ENST00000396284.2_Intron	p.A275V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	864	+			275					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.824C>T		.	.	.	.	.	.	.	.	.	.	C	7.873	0.728611	0.15507	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	T;T;T	0.00502	7.11;7.07;6.95	0.929	-0.622	0.11560	.	.	.	.	.	T	0.00496	0.0016	M	0.67953	2.075	0.09310	N	1	B;B;B	0.26547	0.152;0.008;0.071	B;B;B	0.20184	0.028;0.013;0.024	T	0.39742	-0.9599	9	0.56958	D	0.05	.	4.3733	0.11258	0.0:0.5684:0.4315:0.0	.	301;275;275	Q6IST4;Q6H2H3;P43627	.;.;KI2L2_HUMAN	V	275;275;301	ENSP00000415758:A275V;ENSP00000336769:A275V;ENSP00000291633:A301V	ENSP00000291633:A301V	A	+	2	0	KIR2DL1;KIR2DL3	59986756	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	1.250000	0.32850	-0.121000	0.11787	0.184000	0.17185	GCG		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		11	55	0	0	0	0.00152264	0	11	55				
CCDC50	152137	broad.mit.edu	37	3	191093190	191093190	+	Intron	SNP	G	G	A	rs534593003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:191093190G>A	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.R263Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488																																						ENST00000392456.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(787-789)cGa>cAa		coiled-coil domain containing 50							97.0	88.0	91.0					3																	191093190		2203	4300	6503	SO:0001627	intron_variant	152137					cytoplasm	protein binding	g.chr3:191093190G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4758G>A	3.37:g.191093190G>A						CCDC50_ENST00000392455.3_Intron	p.R263Q	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	6	1378	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		283					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.788G>A	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540445	0.27563	.	.	ENSG00000152492	ENST00000392456	T	0.32515	1.45	5.78	1.82	0.25136	.	0.446213	0.19208	N	0.120016	T	0.20007	0.0481	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.16424	-1.0403	9	0.33141	T	0.24	.	9.4196	0.38544	0.0769:0.4073:0.5158:0.0	.	263	Q8IVM0-2	.	Q	263	ENSP00000376250:R263Q	ENSP00000376250:R263Q	R	+	2	0	CCDC50	192575884	0.000000	0.05858	0.053000	0.19242	0.042000	0.13812	-0.355000	0.07671	0.350000	0.24002	0.655000	0.94253	CGA		0.488	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		13	33	0	0	0	0.00185496	0	13	33				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	56	0	0	0	0.00198382	0	5	56				
TECPR2	9895	broad.mit.edu	37	14	102900897	102900897	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1741-1743)ctG>ctT		tectonin beta-propeller repeat containing 2							80.0	63.0	68.0					14																	102900897		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102900897G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1743G>T	14.37:g.102900897G>T						TECPR2_ENST00000558678.1_Silent_p.L581L	p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	1969	+			581					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1743G>T	CCDS32162.1																																																																																				0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	30	1	0	1.58986e-06	0.000673444	6.20744e-06	11	30				
NEB	4703	broad.mit.edu	37	2	152423805	152423805	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:152423805G>A	ENST00000172853.10	-	86	13077	c.12930C>T	c.(12928-12930)gcC>gcT	p.A4310A	NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000427231.2_Silent_p.A6011A|NEB_ENST00000409198.1_Silent_p.A4310A			P20929	NEBU_HUMAN	nebulin	4310					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18031-18033)gcC>gcT		nebulin							171.0	160.0	164.0					2																	152423805		1953	4153	6106	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152423805G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12930C>T	2.37:g.152423805G>A						NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000172853.10_Silent_p.A4310A|NEB_ENST00000409198.1_Silent_p.A4310A|NEB_ENST00000427231.2_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A	p.A6011A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	114	18235	-			6028					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18033C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		52	53	0	0	0	0.000781405	0	52	53				
COL3A1	1281	broad.mit.edu	37	2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 22; AA sequence). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAGGAGCTAACGGTCTCAG	0.433																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2956-2958)Aac>Tac		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						113.0	117.0	115.0					2																	189870100		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870100A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2956A>T	2.37:g.189870100A>T	ENSP00000304408:p.Asn986Tyr					COL3A1_ENST00000317840.5_Intron	p.N986Y	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3126	+			986	ANGLS -> PSGQN (in Ref. 20; AA sequence).		Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2956A>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835661	0.50951	.	.	ENSG00000168542	ENST00000304636	D	0.93811	-3.29	5.5	3.07	0.35406	.	0.538514	0.18159	N	0.149839	D	0.94358	0.8186	L	0.39898	1.24	0.09310	N	0.999996	D	0.69078	0.997	D	0.77557	0.99	D	0.88360	0.2987	10	0.72032	D	0.01	.	12.6558	0.56786	0.7579:0.2421:0.0:0.0	.	986	P02461	CO3A1_HUMAN	Y	986	ENSP00000304408:N986Y	ENSP00000304408:N986Y	N	+	1	0	COL3A1	189578345	0.001000	0.12720	0.200000	0.23457	0.898000	0.52572	0.137000	0.15995	0.360000	0.24265	0.528000	0.53228	AAC		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		52	62	0	0	0	0.000781405	0	52	62				
IL19	29949	broad.mit.edu	37	1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478																																						ENST00000340758.2																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(28-30)agA>agT		interleukin 19							181.0	146.0	158.0					1																	206972269		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:206972269A>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.30A>T	1.37:g.206972269A>T	ENSP00000343000:p.Arg10Ser						p.R10S	NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	55	+			0					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000340758.2	37	c.30A>T	CCDS1468.1	.	.	.	.	.	.	.	.	.	.	A	1.255	-0.617453	0.03663	.	.	ENSG00000142224	ENST00000340758	T	0.36699	1.24	4.05	2.94	0.34122	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	9	0.87932	D	0	.	5.42	0.16396	0.8679:0.0:0.1321:0.0	.	10	Q5VUT3	.	S	10	ENSP00000343000:R10S	ENSP00000343000:R10S	R	+	3	2	IL19	205038892	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.340000	0.19892	0.921000	0.36994	0.533000	0.62120	AGA		0.478	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		34	80	0	0	0	0.000814825	0	34	80				
PARP10	84875	broad.mit.edu	37	8	145060329	145060329	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(73-75)gaG>gaA		poly (ADP-ribose) polymerase family, member 10							48.0	55.0	53.0					8																	145060329		2202	4300	6502	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060329C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.75G>A	8.37:g.145060329C>T						PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron	p.E25E	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	169	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		25					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.75G>A	CCDS34960.1																																																																																				0.657	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		12	63	0	0	0	0.000308642	0	12	63				
TENM3	55714	broad.mit.edu	37	4	183601503	183601503	+	Splice_Site	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:183601503G>A	ENST00000511685.1	+	9	1762		c.e9+1		TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTCAAGAGGTATGCAAGTT	0.443																																						ENST00000511685.1																			0											c.e9+1		teneurin transmembrane protein 3							126.0	112.0	117.0					4																	183601503		1852	4102	5954	SO:0001630	splice_region_variant	55714							g.chr4:183601503G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1639+1G>A	4.37:g.183601503G>A						TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site								9	1762	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Splice_Site	SNP	ENST00000511685.1	37		CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576606	0.65878	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODZ3	183838497	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.240000	0.95396	2.861000	0.98227	0.655000	0.94253	.		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		Intron	8	19	0	0	0	0.000274275	0	8	19				
AC015849.16	0	broad.mit.edu	37	17	34234112	34234112	+	lincRNA	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:34234112G>T	ENST00000587132.1	-	0	3915																											GGGGCCGCCTGCTGGGCTGGA	0.517																																						ENST00000587132.1																			0																																																			0							g.chr17:34234112G>T																													17.37:g.34234112G>T														0	3915	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.517	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			8	57	1	0	1.06961e-07	0.000157383	4.24381e-07	8	57				
CTNNB1	1499	broad.mit.edu	37	3	41267196	41267196	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H|CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAACTCTCCACAACCTTTTAT	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(778-780)caC>caT		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						94.0	100.0	98.0					3																	41267196		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41267196C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.780C>T	3.37:g.41267196C>T						CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	p.H260H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	6	1060	+			260					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.780C>T	CCDS2694.1																																																																																				0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		54	37	0	0	0	0.000781405	0	54	37				
OR2L3	391192	broad.mit.edu	37	1	248224826	248224826	+	Silent	SNP	T	T	C	rs539111593		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:248224826T>C	ENST00000359959.3	+	1	843	c.843T>C	c.(841-843)acT>acC	p.T281T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCACCCTCACTCCAATGCTCA	0.493													N|||	1	0.000199681	0.0	0.0014	5008	,	,		19296	0.0		0.0	False		,,,				2504	0.0					ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(841-843)acT>acC		olfactory receptor, family 2, subfamily L, member 3							93.0	87.0	89.0					1																	248224826		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224826T>C	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.843T>C	1.37:g.248224826T>C						OR2L13_ENST00000366478.2_Intron	p.T281T	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	843	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		281					B9EH44	Silent	SNP	ENST00000359959.3	37	c.843T>C	CCDS31104.1																																																																																				0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		4	109	0	0	0	0.000602214	0	4	109				
SLC19A3	80704	broad.mit.edu	37	2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1072-1074)gGt>gAt		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82.0	93.0	89.0					2																	228560704		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560704C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1073G>A	2.37:g.228560704C>T	ENSP00000258403:p.Gly358Asp					SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D|SLC19A3_ENST00000409287.1_Intron	p.G358D	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1144	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	358						Missense_Mutation	SNP	ENST00000258403.3	37	c.1073G>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461724	0.26248	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.80994	-1.44;-1.44	5.03	2.06	0.26882	Major facilitator superfamily domain, general substrate transporter (1);	0.327983	0.34484	N	0.003925	D	0.89255	0.6663	M	0.92604	3.325	0.24671	N	0.993419	D;P	0.52996	0.957;0.911	P;P	0.59171	0.853;0.853	T	0.82386	-0.0483	10	0.46703	T	0.11	-11.6664	12.2542	0.54615	0.1221:0.5234:0.3545:0.0	.	354;358	F5H2M8;Q9BZV2	.;S19A3_HUMAN	D	358;354	ENSP00000258403:G358D;ENSP00000445519:G354D	ENSP00000258403:G358D	G	-	2	0	SLC19A3	228268948	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.357000	0.07651	0.683000	0.31428	-0.150000	0.13652	GGT		0.468	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			29	86	0	0	0	0.00127121	0	29	86				
TIAM2	26230	broad.mit.edu	37	6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1372-1374)Att>Gtt		T-cell lymphoma invasion and metastasis 2							103.0	111.0	108.0					6																	155458488		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458488A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1372A>G	6.37:g.155458488A>G	ENSP00000437188:p.Ile458Val					TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V	p.I458V			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2645	+		Ovarian(120;0.196)	458					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1372A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746020	0.30955	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04862	3.67;3.54;3.63;3.67;3.67;3.63	6.08	4.91	0.64330	.	0.051889	0.85682	N	0.000000	T	0.05318	0.0141	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.44081	-0.9351	10	0.10902	T	0.67	.	9.2029	0.37270	0.8616:0.0:0.1384:0.0	.	458	Q8IVF5	TIAM2_HUMAN	V	458;704;458;458;458;458;458	ENSP00000437188:I458V;ENSP00000434901:I458V;ENSP00000407746:I458V;ENSP00000327315:I458V;ENSP00000353528:I458V;ENSP00000433348:I458V	ENSP00000327315:I458V	I	+	1	0	TIAM2	155500180	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	4.872000	0.63050	1.117000	0.41842	0.533000	0.62120	ATT		0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		38	76	0	0	0	0.000953801	0	38	76				
MME	4311	broad.mit.edu	37	3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000360490.2_Missense_Mutation_p.P162A|MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAAACTGTTACCAGACATATA	0.363																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(484-486)Cca>Gca		membrane metallo-endopeptidase	Candoxatril(DB00616)						63.0	65.0	64.0					3																	154834497		2199	4299	6498	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834497C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.484C>G	3.37:g.154834497C>G	ENSP00000418525:p.Pro162Ala					MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A|MME_ENST00000360490.2_Missense_Mutation_p.P162A	p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		6	604	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	162					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.484C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099331	0.37048	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.95	4.14	0.48551	Peptidase M13 (1);	0.148203	0.64402	D	0.000009	T	0.61502	0.2352	N	0.16743	0.435	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.42050	-0.9474	10	0.14656	T	0.56	-5.5888	7.0425	0.25029	0.2225:0.6067:0.108:0.0628	.	162	P08473	NEP_HUMAN	A	162	ENSP00000420389:P162A;ENSP00000418525:P162A;ENSP00000420101:P162A;ENSP00000419653:P162A;ENSP00000417079:P162A;ENSP00000353679:P162A	ENSP00000353679:P162A	P	+	1	0	MME	156317191	1.000000	0.71417	0.034000	0.17996	0.615000	0.37417	2.089000	0.41672	1.518000	0.48934	0.655000	0.94253	CCA		0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		7	45	0	0	0	0.00198382	0	7	45				
PCDHGB1	56104	broad.mit.edu	37	5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	716					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTCCAGCCTCGACACT	0.582																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2146-2148)aGc>aTc									108.0	114.0	112.0					5																	140731974		2048	4186	6234	SO:0001583	missense	56104							g.chr5:140731974G>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2147G>T	5.37:g.140731974G>T	ENSP00000429273:p.Ser716Ile					PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.S716I	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2147	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2147G>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.754838	0.49362	.	.	ENSG00000254221	ENST00000523390	T	0.16196	2.36	5.47	3.28	0.37604	.	.	.	.	.	T	0.32285	0.0824	M	0.78637	2.42	0.09310	N	1	D;P	0.55800	0.973;0.836	P;P	0.55999	0.789;0.62	T	0.09465	-1.0673	9	0.52906	T	0.07	.	6.5964	0.22677	0.1321:0.3337:0.5342:0.0	.	716;716	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	I	716	ENSP00000429273:S716I	ENSP00000429273:S716I	S	+	2	0	PCDHGB1	140712158	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.132000	0.10467	1.416000	0.47057	0.655000	0.94253	AGC		0.582	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		15	147	1	0	1.52009e-12	0.000308642	6.36619e-12	15	147				
MAGEB18	286514	broad.mit.edu	37	X	26157205	26157205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(103-105)Gga>Aga		melanoma antigen family B, 18							52.0	45.0	47.0					X																	26157205		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157205G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.103G>A	X.37:g.26157205G>A	ENSP00000314543:p.Gly35Arg						p.G35R	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	290	+			35						Missense_Mutation	SNP	ENST00000325250.1	37	c.103G>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776167	0.16051	.	.	ENSG00000176774	ENST00000325250	T	0.04194	3.68	3.93	-0.507	0.11985	Melanoma associated antigen, MAGE, N-terminal (1);	2.322340	0.02115	N	0.055125	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	B	0.26809	0.16	B	0.20184	0.028	T	0.41124	-0.9526	10	0.56958	D	0.05	.	7.0248	0.24934	0.5444:0.0:0.4556:0.0	.	35	Q96M61	MAGBI_HUMAN	R	35	ENSP00000314543:G35R	ENSP00000314543:G35R	G	+	1	0	MAGEB18	26067126	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.607000	0.24209	-0.260000	0.09418	-0.176000	0.13171	GGA		0.587	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		5	15	0	0	0	0.000602214	0	5	15				
NOL4	8715	broad.mit.edu	37	18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S|NOL4_ENST00000269185.4_Missense_Mutation_p.N391S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1819-1821)aAt>aGt		nucleolar protein 4							116.0	102.0	107.0					18																	31432903		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432903T>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1820A>G	18.37:g.31432903T>C	ENSP00000261592:p.Asn607Ser					NOL4_ENST00000269185.4_Missense_Mutation_p.N391S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S|NOL4_ENST00000535475.1_Missense_Mutation_p.N388S	p.N607S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			11	2117	-			607					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1820A>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	0.984	-0.696232	0.03279	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.31664	0.95	0.46749	D	0.999187	P;P;P;P;P;B	0.50943	0.655;0.94;0.907;0.655;0.917;0.041	B;P;P;B;D;B	0.63488	0.269;0.465;0.546;0.269;0.915;0.078	T	0.54603	-0.8269	9	0.02654	T	1	-21.7792	16.4338	0.83864	0.0:0.0:0.0:1.0	.	322;533;607;322;505;388	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	S	607;391;322;388;533	.	ENSP00000261592:N607S	N	-	2	0	NOL4	29686901	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.976000	0.56867	2.270000	0.75569	0.533000	0.62120	AAT		0.468	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		25	49	0	0	0	0.000878237	0	25	49				
DNMT3A	1788	broad.mit.edu	37	2	25468197	25468197	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000321117.5_Silent_p.I493I|DNMT3A_ENST00000402667.1_Silent_p.I270I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	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)					AGGAGATGCAGATGTCTGGAA	0.602			"""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.(1477-1479)atC>atT		DNA (cytosine-5-)-methyltransferase 3 alpha							79.0	79.0	79.0					2																	25468197		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.chr2:25468197G>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.1479C>T	2.37:g.25468197G>A						DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000321117.5_Silent_p.I493I	p.I493I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			13	1816	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		493			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1479C>T	CCDS33157.1																																																																																				0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		34	36	0	0	0	0.00283554	0	34	36				
TJP1	7082	broad.mit.edu	37	15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1252-1254)Ctt>Ttt		tight junction protein 1							57.0	57.0	57.0					15																	30033539		1819	4079	5898	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30033539G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1252C>T	15.37:g.30033539G>A	ENSP00000281537:p.Leu418Phe					TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F	p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	10	1726	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	418					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1252C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311747	0.40895	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.27	5.27	0.74061	PDZ/DHR/GLGF (1);	114.053000	0.00166	N	0.000002	T	0.49643	0.1569	L	0.44542	1.39	0.80722	D	1	B;B;B;P	0.35155	0.002;0.005;0.068;0.487	B;B;B;B	0.34779	0.009;0.021;0.069;0.189	T	0.18871	-1.0323	9	.	.	.	.	16.061	0.80838	0.0:0.0:1.0:0.0	.	411;418;418;422	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	418;422;418;418;418	ENSP00000281537:L418F;ENSP00000382890:L422F;ENSP00000441202:L418F;ENSP00000348416:L418F	.	L	-	1	0	TJP1	27820831	1.000000	0.71417	0.996000	0.52242	0.479000	0.33129	6.789000	0.75110	2.458000	0.83093	0.555000	0.69702	CTT		0.338	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		19	23	0	0	0	0.000958276	0	19	23				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		11	38	0	0	0	0.00136819	0	11	38				
PSORS1C1	170679	broad.mit.edu	37	6	31084822	31084822	+	Intron	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:31084822G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S190S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GTCCAGGCTGGGAAGGGTTTA	0.557																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(568-570)tcC>tcA		corneodesmosin							85.0	92.0	89.0					6																	31084822		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084822G>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2154G>T	6.37:g.31084822G>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S190S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	596	-			190			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.570C>A	CCDS34390.1																																																																																				0.557	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		38	36	1	0	3.62531e-18	0.000814825	1.57902e-17	38	36				
CCDC40	55036	broad.mit.edu	37	17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1873-1875)aGg>aTg		coiled-coil domain containing 40							39.0	43.0	41.0					17																	78055742		2146	4256	6402	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055742G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1874G>T	17.37:g.78055742G>T	ENSP00000380679:p.Arg625Met					CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	1901	+	all_neural(118;0.167)		625					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1874G>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224128	0.58668	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51817	0.69;0.73	5.07	-1.4	0.08968	.	.	.	.	.	T	0.57140	0.2033	M	0.63428	1.95	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.862;0.891	T	0.51725	-0.8669	9	0.46703	T	0.11	-21.2565	9.6452	0.39863	0.7851:0.0:0.2149:0.0	.	625;408	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	625	ENSP00000364011:R625M;ENSP00000380679:R625M	ENSP00000364011:R625M	R	+	2	0	CCDC40	75670337	0.009000	0.17119	0.000000	0.03702	0.142000	0.21351	1.492000	0.35594	-0.102000	0.12197	-0.302000	0.09304	AGG		0.577	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		9	36	1	0	3.09899e-07	0.000274275	1.2148e-06	9	36				
ZNF585B	92285	broad.mit.edu	37	19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1153-1155)Agt>Tgt		zinc finger protein 585B							108.0	101.0	103.0					19																	37677286		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677286T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1153A>T	19.37:g.37677286T>A	ENSP00000433773:p.Ser385Cys					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000527838.1_3'UTR	p.S385C	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1404	-			385					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1153A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.899	1.206353	0.22205	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19669	2.13;3.14	2.89	0.66	0.17868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194277	0.26268	N	0.025344	T	0.20536	0.0494	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.46020	0.871;0.871	B;P	0.47626	0.327;0.552	T	0.12451	-1.0547	10	0.66056	D	0.02	.	2.2284	0.03990	0.23:0.2983:0.0:0.4716	.	330;385	E9PQH3;Q52M93	.;Z585B_HUMAN	C	330;385	ENSP00000436774:S330C;ENSP00000433773:S385C	ENSP00000436774:S330C	S	-	1	0	ZNF585B	42369126	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	-3.204000	0.00559	-0.024000	0.13941	0.374000	0.22700	AGT		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		10	56	0	0	0	0.000442599	0	10	56				
ARNT	405	broad.mit.edu	37	1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		1	Substitution - coding silent(1)	p.R185R(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(553-555)agG>agT		aryl hydrocarbon receptor nuclear translocator							97.0	83.0	88.0					1																	150808901		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150808901C>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.555G>T	1.37:g.150808901C>A	ENSP00000351407:p.Arg185Ser					ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000468970.1_5'UTR	p.R185S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	755	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		185			PAS 1.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.555G>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.52	-1.71	0.08133	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	M	0.74389	2.26	0.80722	D	1	D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;0.863;0.863;0.996;1.0	D;D;D;P;P;D;D	0.91635	0.999;0.999;0.999;0.8;0.8;0.969;0.999	T	0.18209	-1.0344	10	0.56958	D	0.05	.	2.0473	0.03563	0.1045:0.3483:0.1984:0.3488	.	169;185;170;185;176;170;185	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	S	185;185;185;176;169;170	ENSP00000351407:R185S;ENSP00000346372:R185S;ENSP00000423851:R176S;ENSP00000427571:R170S	ENSP00000346372:R185S	R	-	3	2	ARNT	149075525	0.012000	0.17670	0.998000	0.56505	0.981000	0.71138	-1.036000	0.03560	0.027000	0.15297	0.655000	0.94253	AGG		0.453	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			11	40	1	0	3.86212e-05	0.000673444	0.000144461	11	40				
HSP90AB1	3326	broad.mit.edu	37	6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(322-324)tCt>tTt		heat shock protein 90kDa alpha (cytosolic), class B member 1							81.0	80.0	80.0					6																	44217289		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217289C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.323C>T	6.37:g.44217289C>T	ENSP00000360609:p.Ser108Phe					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F	p.S108F			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	537	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		108					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.323C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721356	0.89205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	D;D;D	0.82526	-1.62;-1.62;-1.62	4.25	4.25	0.50352	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	U	0.000002	D	0.96278	0.8786	H	0.99993	5.37	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.903;1.0	D	0.98834	1.0752	10	0.87932	D	0	-4.4865	17.0507	0.86518	0.0:1.0:0.0:0.0	.	108;108	B4DGL0;P08238	.;HS90B_HUMAN	F	108	ENSP00000360709:S108F;ENSP00000325875:S108F;ENSP00000360609:S108F	ENSP00000325875:S108F	S	+	2	0	HSP90AB1	44325267	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.818000	0.86416	2.112000	0.64535	0.555000	0.69702	TCT		0.418	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		9	59	0	0	0	0.000442599	0	9	59				
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:126138423G>T	ENST00000299308.3	+	9	2412	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2404-2406)Gat>Tat		transmembrane protein 132B							81.0	81.0	81.0					12																	126138423		2066	4209	6275	SO:0001583	missense	114795					integral to membrane		g.chr12:126138423G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2404G>T	12.37:g.126138423G>T	ENSP00000299308:p.Asp802Tyr					TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	p.D802Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2412	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		802					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2404G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915096	0.33815	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.19105	2.17;2.17	5.54	5.54	0.83059	.	2.820060	0.00980	N	0.003370	T	0.43678	0.1258	L	0.28192	0.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.19549	-1.0302	10	0.44086	T	0.13	.	19.4949	0.95069	0.0:0.0:1.0:0.0	.	802	Q14DG7	T132B_HUMAN	Y	802;314	ENSP00000299308:D802Y;ENSP00000440436:D314Y	ENSP00000299308:D802Y	D	+	1	0	TMEM132B	124704376	1.000000	0.71417	0.123000	0.21794	0.083000	0.17756	4.511000	0.60462	2.601000	0.87937	0.655000	0.94253	GAT		0.473	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		6	57	1	0	3.59834e-05	0.00116845	0.000136153	6	57				
ERICH3	127254	broad.mit.edu	37	1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		879	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCAAGGCTTGCTTTTCAGG	0.527																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2635-2637)cAa>cGa		chromosome 1 open reading frame 173							227.0	226.0	226.0					1																	75038758		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038758T>C																												ENST00000326665.5:c.2636A>G	1.37:g.75038758T>C	ENSP00000322609:p.Gln879Arg					C1orf173_ENST00000433746.2_5'UTR	p.Q879R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2854	-			879			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2636A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	4.397	0.073358	0.08485	.	.	ENSG00000178965	ENST00000326665	T	0.13657	2.57	5.37	-6.16	0.02098	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.29988	0.264	B	0.24701	0.055	T	0.44050	-0.9353	9	0.18710	T	0.47	-0.8712	1.4491	0.02371	0.2047:0.1253:0.3168:0.3532	.	879	Q5RHP9	CA173_HUMAN	R	879	ENSP00000322609:Q879R	ENSP00000322609:Q879R	Q	-	2	0	C1orf173	74811346	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.015000	0.13355	-1.087000	0.03081	-0.490000	0.04691	CAA		0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			72	156	0	0	0	0.000781405	0	72	156				
PRR12	57479	broad.mit.edu	37	19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A	rs542085119	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCGAGGACGGGGCAGCAGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		13575	0.0		0.0	False		,,,				2504	0.002					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1996-1998)Ggg>Agg		proline rich 12							13.0	16.0	15.0					19																	50099588		1874	4027	5901	SO:0001583	missense	57479						DNA binding	g.chr19:50099588G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1996G>A	19.37:g.50099588G>A	ENSP00000394510:p.Gly666Arg						p.G666R	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2008	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	412			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1996G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729106	0.15507	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.61	2.57	0.30868	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.19575	N	0.999963	B	0.23490	0.086	B	0.13407	0.009	T	0.15464	-1.0436	7	0.39692	T	0.17	.	6.958	0.24582	0.22:0.0:0.78:0.0	.	666	Q9ULL5-3	.	R	666	.	ENSP00000394510:G666R	G	+	1	0	PRR12	54791400	0.625000	0.27111	0.835000	0.33067	0.898000	0.52572	2.128000	0.42045	0.884000	0.36064	0.297000	0.19635	GGG		0.672	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	11	0	0	0	0.00198382	0	4	11				
PLEKHS1	79949	broad.mit.edu	37	10	115534710	115534710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:115534710C>A	ENST00000369310.3	+	9	1449	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.S46Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	296																	TGGTGTCTTTCCCCTGCCGAT	0.488																																						ENST00000354462.3																			0											c.(136-138)tCc>tAc		pleckstrin homology domain containing, family S member 1							94.0	81.0	86.0					10																	115534710		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115534710C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.887C>A	10.37:g.115534710C>A	ENSP00000358316:p.Ser296Tyr					PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S296Y	p.S46Y							3	295	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.137C>A	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.973|5.973	0.363548|0.363548	0.11296|0.11296	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36	5.49|5.49	2.53|2.53	0.30540|0.30540	.|.	.|0.568511	.|0.18319	.|N	.|0.144845	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.46457	.|0.878;0.631;0.85;0.795	.|P;B;P;P	.|0.49999	.|0.628;0.165;0.525;0.51	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.62326	.|D	.|0.03	2.0513|2.0513	6.0858|6.0858	0.19966|0.19966	0.0:0.6755:0.1534:0.1711|0.0:0.6755:0.1534:0.1711	.|.	.|296;296;296;302	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.|CJ081_HUMAN;.;.;.	L|Y	12|302;214;296;116;46	.|ENSP00000354332:S302Y;ENSP00000358318:S214Y;ENSP00000358316:S296Y;ENSP00000358315:S116Y;ENSP00000346451:S46Y	.|ENSP00000346451:S46Y	F|S	+|+	3|2	2|0	C10orf81|C10orf81	115524700|115524700	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	0.594000|0.594000	0.24014|0.24014	0.250000|0.250000	0.21479|0.21479	-0.216000|-0.216000	0.12614|0.12614	TTC|TCC		0.488	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		12	28	1	0	0.00010058	0.00136819	0.000374784	12	28				
COL6A6	131873	broad.mit.edu	37	3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(6175-6177)Gct>Tct		collagen, type VI, alpha 6							90.0	88.0	89.0					3																	130380825		1898	4131	6029	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130380825G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6175G>T	3.37:g.130380825G>T	ENSP00000351310:p.Ala2059Ser					COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			34	6206	+			2059			Nonhelical region.|VWFA 9.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6175G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314105	0.10789	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82433	-1.61;-1.61	6.04	4.23	0.50019	von Willebrand factor, type A (3);	.	.	.	.	T	0.73690	0.3619	L	0.31294	0.92	0.09310	N	1	B;B	0.25312	0.069;0.123	B;B	0.33890	0.049;0.172	T	0.60021	-0.7344	9	0.22109	T	0.4	.	6.4079	0.21674	0.0677:0.241:0.5661:0.1252	.	2059;2059	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	S	2059	ENSP00000351310:A2059S;ENSP00000399236:A2059S	ENSP00000351310:A2059S	A	+	1	0	COL6A6	131863515	0.000000	0.05858	0.109000	0.21407	0.911000	0.54048	-0.339000	0.07832	0.858000	0.35431	0.561000	0.74099	GCT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	42	1	0	3.27435e-08	0.00244969	1.30974e-07	14	42				
CD1D	912	broad.mit.edu	37	1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(715-717)Atg>Ttg		CD1d molecule							120.0	111.0	114.0					1																	158152775		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152775A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.715A>T	1.37:g.158152775A>T	ENSP00000357153:p.Met239Leu						p.M239L	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1214	+	all_hematologic(112;0.0378)		239			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.715A>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969021	0.53614	.	.	ENSG00000158473	ENST00000368171	T	0.11169	2.8	5.18	4.02	0.46733	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.100480	0.44902	N	0.000412	T	0.05914	0.0154	L	0.45051	1.395	0.30180	N	0.800538	P	0.48764	0.915	P	0.47044	0.535	T	0.09100	-1.0690	10	0.87932	D	0	-31.2078	9.1153	0.36753	0.815:0.185:0.0:0.0	.	239	P15813	CD1D_HUMAN	L	239	ENSP00000357153:M239L	ENSP00000357153:M239L	M	+	1	0	CD1D	156419399	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.327000	0.19663	0.869000	0.35703	0.533000	0.62120	ATG		0.627	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		10	133	0	0	0	0.000673444	0	10	133				
GPR119	139760	broad.mit.edu	37	X	129518927	129518927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(493-495)ttC>ttA		G protein-coupled receptor 119							112.0	92.0	99.0					X																	129518927		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518927G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.495C>A	X.37:g.129518927G>T	ENSP00000276218:p.Phe165Leu						p.F165L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	584	-			165					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.495C>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646431	0.14451	.	.	ENSG00000147262	ENST00000276218	T	0.36520	1.25	4.74	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.354834	0.30028	N	0.010593	T	0.27419	0.0673	L	0.43598	1.365	0.09310	N	1	P	0.44776	0.843	B	0.40741	0.339	T	0.30563	-0.9974	10	0.87932	D	0	-14.2445	11.2512	0.49026	0.6222:0.0:0.3778:0.0	.	165	Q8TDV5	GP119_HUMAN	L	165	ENSP00000276218:F165L	ENSP00000276218:F165L	F	-	3	2	GPR119	129346608	0.954000	0.32549	0.169000	0.22859	0.276000	0.26787	1.189000	0.32114	-0.503000	0.06586	-0.332000	0.08345	TTC		0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		21	13	1	0	2.54575e-18	0.00152264	1.11376e-17	21	13				
RASSF4	83937	broad.mit.edu	37	10	45484754	45484754	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:45484754G>A	ENST00000340258.5	+	7	677	c.564G>A	c.(562-564)gtG>gtA	p.V188V	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.V197V	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	802	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562																																						ENST00000334940.6																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(589-591)gtG>gtA		Ras association (RalGDS/AF-6) domain family member 4							110.0	90.0	97.0					10																	45484754		2203	4300	6503	SO:0001819	synonymous_variant	83937				cell cycle|signal transduction		protein binding	g.chr10:45484754G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.564G>A	10.37:g.45484754G>A						RASSF4_ENST00000340258.4_Silent_p.V188V|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR	p.V197V			Q9H2L5	RASF4_HUMAN			7	725	+			188			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	c.591G>A	CCDS7208.1																																																																																				0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		11	31	0	0	0	0.00136819	0	11	31				
MAPK11	5600	broad.mit.edu	37	22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GCACTTGACGATGTTGTTCAG	0.682																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(346-348)aTc>aAc		mitogen-activated protein kinase 11							24.0	27.0	26.0					22																	50705870		2189	4289	6478	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705870A>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.347T>A	22.37:g.50705870A>T	ENSP00000333685:p.Ile116Asn					MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N	p.I116N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	447	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	116			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.347T>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	a	17.28	3.349510	0.61183	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.67345	-0.26;-0.26	5.06	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.84660	0.5521	H	0.94462	3.54	0.80722	D	1	D;P	0.69078	0.997;0.792	D;P	0.75484	0.986;0.835	D	0.85969	0.1475	10	0.87932	D	0	-15.7829	9.6785	0.40056	0.9152:0.0:0.0848:0.0	.	8;116	B7Z630;Q15759	.;MK11_HUMAN	N	116;8	ENSP00000333685:I116N;ENSP00000406921:I8N	ENSP00000333685:I116N	I	-	2	0	MAPK11	49047997	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	5.715000	0.68430	0.785000	0.33685	0.449000	0.29647	ATC		0.682	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			9	12	0	0	0	0.000673444	0	9	12				
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:70139220G>C	ENST00000602465.1	-	12	1266	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000388768.2_Missense_Mutation_p.T424S			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1270-1272)aCc>aGc		RUN and FYVE domain containing 2							117.0	118.0	118.0					10																	70139220		1826	4078	5904	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70139220G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1166C>G	10.37:g.70139220G>C	ENSP00000473462:p.Thr389Ser					RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T389S	p.T424S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			12	1597	-			438					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1271C>G		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205384	0.39003	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.53640	0.61;1.89;1.46	4.84	2.9	0.33743	.	0.106288	0.64402	D	0.000005	T	0.41949	0.1181	L	0.56280	1.765	0.48395	D	0.999643	B;B;B;B	0.28178	0.009;0.202;0.073;0.143	B;B;B;B	0.32289	0.007;0.084;0.06;0.143	T	0.17684	-1.0361	10	0.11485	T	0.65	.	13.7045	0.62629	0.0:0.0:0.7038:0.2962	.	331;389;355;424	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	S	424;355;331	ENSP00000373420:T424S;ENSP00000382151:T355S;ENSP00000404986:T331S	ENSP00000373420:T424S	T	-	2	0	RUFY2	69809226	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.722000	0.61958	0.681000	0.31386	0.491000	0.48974	ACC		0.338	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	64	0	0	0	0.000442599	0	8	64				
SCPEP1	59342	broad.mit.edu	37	17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498																																						ENST00000262288.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(736-738)tAc>tGc		serine carboxypeptidase 1							91.0	92.0	92.0					17																	55072947		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072947A>G	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.737A>G	17.37:g.55072947A>G	ENSP00000262288:p.Tyr246Cys						p.Y246C	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			8	792	+	Breast(9;2.86e-08)		246					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.737A>G	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234140	0.39498	.	.	ENSG00000121064	ENST00000262288	D	0.85702	-2.02	5.72	4.62	0.57501	.	0.052425	0.85682	D	0.000000	D	0.91449	0.7301	M	0.87827	2.91	0.40118	D	0.976568	D	0.67145	0.996	D	0.65684	0.937	D	0.90250	0.4293	10	0.30854	T	0.27	-2.9879	10.6384	0.45579	0.7443:0.0:0.0:0.2557	.	246	Q9HB40	RISC_HUMAN	C	246	ENSP00000262288:Y246C	ENSP00000262288:Y246C	Y	+	2	0	SCPEP1	52427946	0.988000	0.35896	0.180000	0.23079	0.228000	0.25075	2.681000	0.46926	0.965000	0.38133	0.455000	0.32223	TAC		0.498	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		6	118	0	0	0	0.00116845	0	6	118				
ZNF550	162972	broad.mit.edu	37	19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:58058918C>G	ENST00000457177.1	-	4	874	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF550_ENST00000325134.5_Missense_Mutation_p.E200Q|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					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)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATTGCATTCATAGGGTTTC	0.488																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(598-600)Gaa>Caa		zinc finger protein 550							161.0	122.0	135.0					19																	58058918		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058918C>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.694G>C	19.37:g.58058918C>G	ENSP00000469679:p.Glu232Gln					ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.E232Q|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q	p.E200Q			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	754	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	232					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.598G>C		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093361	0.36952	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.20200	2.09;2.09	3.61	-1.09	0.09904	.	.	.	.	.	T	0.10423	0.0255	N	0.11106	0.095	0.09310	N	1	B	0.26195	0.144	B	0.32533	0.147	T	0.35574	-0.9783	9	0.66056	D	0.02	-6.1328	2.5973	0.04857	0.3592:0.3118:0.0:0.3291	.	200	Q7Z398-2	.	Q	232;200;191	ENSP00000446224:E200Q;ENSP00000422344:E191Q	ENSP00000446224:E200Q	E	-	1	0	AC003682.1	62750730	0.000000	0.05858	0.015000	0.15790	0.716000	0.41182	-2.751000	0.00792	0.009000	0.14813	0.655000	0.94253	GAA		0.488	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		16	38	0	0	0	0.000308642	0	16	38				
COL11A1	1301	broad.mit.edu	37	1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:103400075C>T	ENST00000370096.3	-	46	3842	c.3530G>A	c.(3529-3531)gGg>gAg	p.G1177E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1189E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3565-3567)gGg>gAg		collagen, type XI, alpha 1							120.0	108.0	112.0					1																	103400075		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400075C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3530G>A	1.37:g.103400075C>T	ENSP00000359114:p.Gly1177Glu					COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1177E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E	p.G1189E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3883	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1177			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3566G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278583	0.80692	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.97125	0.9814	10	0.87932	D	0	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	1061;1138;1189;1177;397	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1177;1189;1138;397;1061	ENSP00000359114:G1177E;ENSP00000351163:G1189E;ENSP00000302551:G1138E;ENSP00000426533:G1061E	ENSP00000302551:G1138E	G	-	2	0	COL11A1	103172663	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.752000	0.85141	2.589000	0.87451	0.655000	0.94253	GGG		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	49	0	0	0	0.00074312	0	16	49				
OR8S1	341568	broad.mit.edu	37	12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260						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(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(778-780)Ctc>Gtc		olfactory receptor, family 8, subfamily S, member 1							104.0	99.0	101.0					12																	48920192		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920192C>G		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.778C>G	12.37:g.48920192C>G	ENSP00000310632:p.Leu260Val					OR8S1_ENST00000551654.1_Intron	p.L260V	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	778	+			260						Missense_Mutation	SNP	ENST00000310194.1	37	c.778C>G	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809117	0.31961	.	.	ENSG00000197376	ENST00000310194	T	0.39787	1.06	4.71	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.430079	0.17323	N	0.178425	T	0.39279	0.1072	L	0.41027	1.25	0.09310	N	0.999997	P	0.35575	0.51	P	0.45406	0.479	T	0.25082	-1.0142	10	0.42905	T	0.14	-40.0598	6.4494	0.21896	0.0:0.7042:0.0:0.2958	.	260	Q8NH09	OR8S1_HUMAN	V	260	ENSP00000310632:L260V	ENSP00000310632:L260V	L	+	1	0	OR8S1	47206459	0.000000	0.05858	0.142000	0.22268	0.938000	0.57974	-2.051000	0.01402	0.703000	0.31848	0.655000	0.94253	CTC		0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			22	49	0	0	0	0.00278032	0	22	49				
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					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)	p.T8414M(2)		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)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.T8414M(2)	large_intestine(2)	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.(25240-25242)aCg>aTg		spectrin repeat containing, nuclear envelope 1							173.0	149.0	157.0					6																	152462343		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.chr6:152462343G>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.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M	p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25842	-		Ovarian(120;0.0955)	8414					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.25241C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	60	0	0	0	0.00058488	0	28	60				
HIVEP3	59269	broad.mit.edu	37	1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:42050284G>A	ENST00000372583.1	-	4	1070	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AACTGATGAGGGGCCCGGGAA	0.622																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(184-186)cCc>cTc		human immunodeficiency virus type I enhancer binding protein 3							70.0	87.0	81.0					1																	42050284		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050284G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.185C>T	1.37:g.42050284G>A	ENSP00000361664:p.Pro62Leu					HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P62L	p.P62L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1199	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	62					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.185C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760478	0.31137	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06371	3.32;3.31;3.31;3.32	4.85	3.93	0.45458	.	0.261628	0.27591	N	0.018685	T	0.06508	0.0167	N	0.24115	0.695	0.42567	D	0.993166	P;B	0.44429	0.835;0.418	B;B	0.43728	0.429;0.136	T	0.34576	-0.9823	10	0.72032	D	0.01	-21.8676	11.5995	0.50995	0.0865:0.0:0.9135:0.0	.	62;62	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	62	ENSP00000361665:P62L;ENSP00000361664:P62L;ENSP00000247584:P62L;ENSP00000410828:P62L	ENSP00000247584:P62L	P	-	2	0	HIVEP3	41822871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.040000	0.57333	1.262000	0.44165	0.563000	0.77884	CCC		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		46	76	0	0	0	0.0025221	0	46	76				
SIGLEC9	27180	broad.mit.edu	37	19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607																																						ENST00000250360.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(1282-1284)Gaa>Taa		sialic acid binding Ig-like lectin 9							68.0	68.0	68.0					19																	51633226		2203	4300	6503	SO:0001587	stop_gained	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633226G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1282G>T	19.37:g.51633226G>T	ENSP00000250360:p.Glu428*					SIGLEC9_ENST00000440804.3_Intron	p.E428*	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1349	+		all_neural(266;0.0529)	428					Q6GTU4|Q9BYI9	Nonsense_Mutation	SNP	ENST00000250360.3	37	c.1282G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.509454	0.44660	.	.	ENSG00000129450	ENST00000250360	.	.	.	1.96	-0.634	0.11516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.3545	0.07164	0.1787:0.2705:0.5507:0.0	.	.	.	.	X	428	.	ENSP00000250360:E428X	E	+	1	0	SIGLEC9	56325038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.079000	0.14782	-0.050000	0.13356	0.514000	0.50259	GAA		0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	77	1	0	0.000274275	0.000274275	0.00101049	9	77				
SV2A	9900	broad.mit.edu	37	1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(2167-2169)Ctt>Ttt		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						47.0	41.0	43.0					1																	149876628		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149876628G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2167C>T	1.37:g.149876628G>A	ENSP00000358142:p.Leu723Phe						p.L723F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	2657	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		723					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2167C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338287	0.60963	.	.	ENSG00000159164	ENST00000369146	T	0.60672	0.17	4.35	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.313337	0.29145	N	0.013003	T	0.61173	0.2326	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.70016	0.874;0.967	T	0.65146	-0.6239	10	0.59425	D	0.04	-11.5295	8.0813	0.30746	0.1082:0.0:0.8918:0.0	.	175;723	B4E000;Q7L0J3	.;SV2A_HUMAN	F	723	ENSP00000358142:L723F	ENSP00000358142:L723F	L	-	1	0	SV2A	148143252	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.409000	0.66374	2.244000	0.73946	0.549000	0.68633	CTT		0.602	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	27	0	0	0	0.00198382	0	7	27				
ATP10A	57194	broad.mit.edu	37	15	25959362	25959362	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1801-1803)tcC>tcA		ATPase, class V, type 10A							36.0	41.0	40.0					15																	25959362		2197	4290	6487	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959362G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1803C>A	15.37:g.25959362G>T							p.S601S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1914	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	601					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1803C>A	CCDS32178.1																																																																																				0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	31	1	0	6.31663e-08	0.000308642	2.51638e-07	16	31				
PTPN21	11099	broad.mit.edu	37	14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2527-2529)Cga>Tga		protein tyrosine phosphatase, non-receptor type 21							141.0	137.0	138.0					14																	88940131		2203	4300	6503	SO:0001587	stop_gained	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940131G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2527C>T	14.37:g.88940131G>A	ENSP00000452414:p.Arg843*					PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2811	-			843						Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2527C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	43	10.436043	0.99405	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.43	5.43	0.79202	.	0.131690	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0467	0.64708	0.0:0.0:0.8119:0.1881	.	.	.	.	X	843	.	ENSP00000330276:R843X	R	-	1	2	PTPN21	88009884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.106000	0.50322	2.547000	0.85894	0.655000	0.94253	CGA		0.398	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	41	0	0	0	0.000602214	0	5	41				
KIAA1755	85449	broad.mit.edu	37	20	36869729	36869729	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(802-804)agC>agT		KIAA1755							131.0	119.0	123.0					20																	36869729		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869729G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.804C>T	20.37:g.36869729G>A							p.S268S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1075	-		Myeloproliferative disorder(115;0.00874)	268					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.804C>T	CCDS33467.1																																																																																				0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		11	75	0	0	0	0.000978159	0	11	75				
ATP13A4	84239	broad.mit.edu	37	3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2608-2610)Gca>Cca		ATPase type 13A4							133.0	116.0	122.0					3																	193156328		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193156328C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2608G>C	3.37:g.193156328C>G	ENSP00000339182:p.Ala870Pro					ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	p.A870P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	23	2930	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		870					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2608G>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466235	0.96257	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.59364	0.27;0.27	5.87	5.87	0.94306	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87089	0.2171	10	0.87932	D	0	-28.3807	19.1458	0.93467	0.0:1.0:0.0:0.0	.	870	Q4VNC1	AT134_HUMAN	P	851;870	ENSP00000376238:A851P;ENSP00000339182:A870P	ENSP00000339182:A870P	A	-	1	0	ATP13A4	194639022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	GCA		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		25	30	0	0	0	0.000720815	0	25	30				
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(685-687)Agt>Tgt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	76.0	73.0					7																	55220295		2203	4299	6502	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220295A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.685A>T	7.37:g.55220295A>T	ENSP00000275493:p.Ser229Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C	p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	862	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		229					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.685A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802635	0.90623	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.080531	0.85682	D	0.000000	T	0.66237	0.2769	M	0.83223	2.63	0.46823	D	0.999219	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.997	D;P;D;P;P	0.70935	0.971;0.895;0.96;0.831;0.784	T	0.72020	-0.4416	10	0.72032	D	0.01	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	184;229;229;229;229	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	184;229;99;229;229;229;229;176;23	ENSP00000415559:S184C;ENSP00000342376:S229C;ENSP00000345973:S229C;ENSP00000413843:S229C;ENSP00000275493:S229C;ENSP00000410031:S229C;ENSP00000395243:S176C	ENSP00000275493:S229C	S	+	1	0	EGFR	55187789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	1.981000	0.57761	0.533000	0.62120	AGT		0.617	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		56	85	0	0	0	0.000781405	0	56	85				
CDK4	1019	broad.mit.edu	37	12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGCAGCTGTGCTCCCGACTC	0.602			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(805-807)gCa>gTa		cyclin-dependent kinase 4							65.0	72.0	69.0					12																	58142978		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58142978G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.806C>T	12.37:g.58142978G>A	ENSP00000257904:p.Ala269Val					CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR	p.A269V	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1171	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		269			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.806C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006575	0.35415	.	.	ENSG00000135446	ENST00000257904;ENST00000549606;ENST00000540325;ENST00000546489	T;T;T;T	0.66099	-0.19;1.02;-0.19;-0.19	4.44	4.44	0.53790	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	T	0.36331	0.0963	N	0.05031	-0.125	0.80722	D	1	B	0.24768	0.111	B	0.23574	0.047	T	0.22068	-1.0227	10	0.23891	T	0.37	.	8.57	0.33563	0.1011:0.0:0.8989:0.0	.	269	P11802	CDK4_HUMAN	V	269;6;149;195	ENSP00000257904:A269V;ENSP00000447005:A6V;ENSP00000439076:A149V;ENSP00000447779:A195V	ENSP00000257904:A269V	A	-	2	0	CDK4	56429245	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.666000	0.54540	2.771000	0.95319	0.655000	0.94253	GCA		0.602	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		18	74	0	0	0	0.00074312	0	18	74				
APC2	10297	broad.mit.edu	37	19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|APC2_ENST00000238483.4_Missense_Mutation_p.G1032R			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAgcgcggcgggggcgccgg	0.786																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3916-3918)Ggg>Agg		adenomatosis polyposis coli 2							5.0	6.0	6.0					19																	1467216		1658	3346	5004	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467216G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3916G>A	19.37:g.1467216G>A	ENSP00000442954:p.Gly1306Arg					APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.G1032R	p.G1306R			O95996	APC2_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)	14	5629	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1306			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.3916G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838189	0.16891	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.93247	-3.19;-2.86;-3.19	2.76	0.433	0.16534	.	1.488140	0.03835	N	0.269689	D	0.87067	0.6085	L	0.39898	1.24	0.09310	N	1	B;P	0.47910	0.004;0.902	B;B	0.38616	0.003;0.277	T	0.77528	-0.2554	10	0.13470	T	0.59	-11.4181	3.643	0.08174	0.1641:0.2564:0.5796:0.0	.	1305;1306	O95996-3;O95996	.;APC2_HUMAN	R	1306;1032;1306	ENSP00000233607:G1306R;ENSP00000238483:G1032R;ENSP00000442954:G1306R	ENSP00000233607:G1306R	G	+	1	0	APC2	1418216	0.002000	0.14202	0.000000	0.03702	0.074000	0.17049	0.167000	0.16602	0.195000	0.20347	0.511000	0.50034	GGG		0.786	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	11	0	0	0	0.00024832	0	4	11				
TLE4	7091	broad.mit.edu	37	9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:82320843G>C	ENST00000376552.2	+	10	1787	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376520.4_Missense_Mutation_p.D257H|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	257	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(769-771)Gac>Cac		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							354.0	339.0	344.0					9																	82320843		1937	4153	6090	SO:0001583	missense	7091							g.chr9:82320843G>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.769G>C	9.37:g.82320843G>C	ENSP00000365735:p.Asp257His					TLE4_ENST00000376552.2_Missense_Mutation_p.D257H|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Missense_Mutation_p.D232H	p.D257H			O60756	BCE1_HUMAN			10	1597	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.769G>C	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942211|4.942211	0.92526|0.92526	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347|ENST00000496114	T;T;T;T;T;T|.	0.75050|.	-0.39;-0.9;-0.88;-0.55;-0.28;0.65|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85592|.	0.5732|.	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.986;1.0;0.991|.	P;D;D|.	0.97110|.	0.858;1.0;0.966|.	D|.	0.86179|.	0.1605|.	10|.	0.87932|.	D|.	0|.	-27.3561|-27.3561	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;257;257|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	H|S	257;257;257;232;242;127|47	ENSP00000365735:D257H;ENSP00000365703:D257H;ENSP00000365720:D257H;ENSP00000265284:D232H;ENSP00000409313:D242H;ENSP00000417844:D127H|.	ENSP00000265284:D232H|.	D|X	+|+	1|2	0|2	TLE4|TLE4	81510663|81510663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	80	0	0	0	0.00116845	0	6	80				
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(871-873)tGc>tTc		DAZ interacting zinc finger protein 3							70.0	75.0	74.0					3																	108353773		2201	4295	6496	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353773G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.872G>T	3.37:g.108353773G>T	ENSP00000355028:p.Cys291Phe					DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			10	1102	+			291					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.872G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274390	0.59649	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000024	T	0.49201	0.1543	N	0.19112	0.55	0.41908	D	0.990454	D;P	0.76494	0.999;0.481	D;B	0.83275	0.996;0.355	T	0.54057	-0.8350	10	0.87932	D	0	-9.4169	13.8419	0.63444	0.0:0.0:1.0:0.0	.	291;291	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	291	ENSP00000355028:C291F;ENSP00000418115:C291F;ENSP00000419981:C291F	ENSP00000355028:C291F	C	+	2	0	DZIP3	109836463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	TGC		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		17	60	1	0	3.51602e-12	0.00121646	1.46625e-11	17	60				
MERTK	10461	broad.mit.edu	37	2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000421804.2_Missense_Mutation_p.E879G|MERTK_ENST00000409780.1_Missense_Mutation_p.E703G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	879					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTTGCTGGAGAGCTCTGAG	0.522																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2635-2637)gAg>gGg		c-mer proto-oncogene tyrosine kinase							126.0	129.0	128.0					2																	112786077		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786077A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2636A>G	2.37:g.112786077A>G	ENSP00000295408:p.Glu879Gly					MERTK_ENST00000409780.1_Missense_Mutation_p.E703G|MERTK_ENST00000421804.2_Missense_Mutation_p.E879G	p.E879G			Q12866	MERTK_HUMAN			19	2893	+			879					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2636A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315260	0.23908	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;D	0.84730	-1.07;-1.07;-1.04;-1.89	5.73	3.34	0.38264	Protein kinase-like domain (1);	0.000000	0.33895	U	0.004446	D	0.82273	0.5001	M	0.71581	2.175	0.43824	D	0.996391	B	0.23650	0.089	B	0.19391	0.025	T	0.76591	-0.2903	10	0.54805	T	0.06	-20.6491	9.0954	0.36636	0.8415:0.0:0.1585:0.0	.	879	Q12866	MERTK_HUMAN	G	879;879;538;703;203	ENSP00000295408:E879G;ENSP00000389152:E879G;ENSP00000387277:E703G;ENSP00000412660:E203G	ENSP00000295408:E879G	E	+	2	0	MERTK	112502548	1.000000	0.71417	0.057000	0.19452	0.012000	0.07955	3.646000	0.54396	0.430000	0.26230	0.533000	0.62120	GAG		0.522	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			43	164	0	0	0	0.000781405	0	43	164				
BSX	390259	broad.mit.edu	37	11	122852272	122852272	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(106-108)gtG>gtA		brain-specific homeobox							37.0	44.0	42.0					11																	122852272		2034	4180	6214	SO:0001819	synonymous_variant	390259							g.chr11:122852272C>T		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.108G>A	11.37:g.122852272C>T							p.V36V	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	1	156	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36						Silent	SNP	ENST00000343035.2	37	c.108G>A	CCDS41728.1																																																																																				0.612	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		3	4	0	0	0	6.4e-05	0	3	4				
RSPO2	340419	broad.mit.edu	37	8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(442-444)gGt>gTt		R-spondin 2							110.0	106.0	107.0					8																	108970481		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970481C>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.443G>T	8.37:g.108970481C>A	ENSP00000276659:p.Gly148Val					RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	p.G148V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1063	-			148			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.443G>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682355	0.88542	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.01;-2.01;-2.75	5.81	5.81	0.92471	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.965	D	0.93623	0.6949	10	0.30854	T	0.27	-2.6947	20.4375	0.99097	0.0:1.0:0.0:0.0	.	148;84	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	V	81;84;84;148;81;81	ENSP00000428940:G81V;ENSP00000427937:G84V;ENSP00000367698:G84V;ENSP00000276659:G148V;ENSP00000428614:G81V;ENSP00000430485:G81V	ENSP00000276659:G148V	G	-	2	0	RSPO2	109039657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.696000	0.68287	2.906000	0.99361	0.655000	0.94253	GGT		0.368	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		20	41	1	0	1.50039e-11	0.00188189	6.20415e-11	20	41				
NEB	4703	broad.mit.edu	37	2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:152483591G>C	ENST00000172853.10	-	66	9690	c.9543C>G	c.(9541-9543)gaC>gaG	p.D3181E	NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000427231.2_Missense_Mutation_p.D3424E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E			P20929	NEBU_HUMAN	nebulin	3181					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10270-10272)gaC>gaG		nebulin							131.0	132.0	132.0					2																	152483591		2055	4226	6281	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483591G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9543C>G	2.37:g.152483591G>C	ENSP00000172853:p.Asp3181Glu					NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000172853.10_Missense_Mutation_p.D3181E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E|NEB_ENST00000427231.2_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E	p.D3424E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	70	10474	-			3424					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10272C>G		.	.	.	.	.	.	.	.	.	.	G	12.16	1.855689	0.32791	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05580	3.42;3.48;3.51;3.42	5.39	2.58	0.30949	.	0.196730	0.52532	D	0.000071	T	0.06872	0.0175	L	0.53249	1.67	0.80722	D	1	B	0.15141	0.012	B	0.17098	0.017	T	0.19943	-1.0290	10	0.35671	T	0.21	.	7.0905	0.25282	0.204:0.129:0.667:0.0	.	3181	P20929	NEBU_HUMAN	E	3181;3424;3424;3181	ENSP00000386259:D3181E;ENSP00000380505:D3424E;ENSP00000416578:D3424E;ENSP00000172853:D3181E	ENSP00000172853:D3181E	D	-	3	2	NEB	152191837	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	2.328000	0.43867	0.753000	0.32945	0.655000	0.94253	GAC		0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	111	0	0	0	0.000274275	0	9	111				
NOVA1	4857	broad.mit.edu	37	14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y|NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(643-645)Aac>Tac		neuro-oncological ventral antigen 1							177.0	164.0	168.0					14																	26918046		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918046T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.643A>T	14.37:g.26918046T>A	ENSP00000438875:p.Asn215Tyr					NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y	p.N215Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	960	-			218			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.643A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226980	0.79576	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;0.8	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.78456	2.415	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.997	D;D;D	0.81914	0.953;0.995;0.991	T	0.82275	-0.0538	10	0.72032	D	0.01	-19.9161	16.0142	0.80425	0.0:0.0:0.0:1.0	.	218;191;215	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	Y	191;215;93;174;69;93	ENSP00000447391:N191Y;ENSP00000438875:N215Y;ENSP00000267422:N93Y;ENSP00000408914:N174Y;ENSP00000299472:N69Y;ENSP00000449113:N93Y	ENSP00000267422:N93Y	N	-	1	0	NOVA1	25987886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.187000	0.69744	0.460000	0.39030	AAC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		43	76	0	0	0	0.00222228	0	43	76				
JPH2	57158	broad.mit.edu	37	20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(76-78)Cat>Aat		junctophilin 2							47.0	46.0	47.0					20																	42815270		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815270G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.76C>A	20.37:g.42815270G>T	ENSP00000362071:p.His26Asn					JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	948	-		Myeloproliferative disorder(115;0.0122)	26			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.76C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573156	0.65765	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55234	0.53;0.53	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.63169	1.94	0.80722	D	1	P;D	0.76494	0.674;0.999	P;D	0.80764	0.568;0.994	T	0.68584	-0.5370	10	0.34782	T	0.22	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	26;26	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	N	26	ENSP00000362071:H26N;ENSP00000344590:H26N	ENSP00000344590:H26N	H	-	1	0	JPH2	42248684	1.000000	0.71417	0.440000	0.26846	0.740000	0.42216	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	CAT		0.622	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			8	43	1	0	2.17888e-05	0.000442599	8.30856e-05	8	43				
NAIP	4671	broad.mit.edu	37	5	70308342	70308342	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:70308342T>C	ENST00000517649.1	-	4	691	c.401A>G	c.(400-402)aAc>aGc	p.N134S	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	134					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTTGGCAATGTTACCAACATC	0.488																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(400-402)aAc>aGc		NLR family, apoptosis inhibitory protein							209.0	172.0	184.0					5																	70308342		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308342T>C	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.401A>G	5.37:g.70308342T>C	ENSP00000428657:p.Asn134Ser					NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S	p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	691	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	134					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.401A>G	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	t	13.93	2.383908	0.42308	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.72051	-0.62;-0.62;-0.62	3.14	3.14	0.36123	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.35677	U	0.003043	T	0.73426	0.3585	L	0.29908	0.895	0.35335	D	0.785948	D;D	0.89917	0.997;1.0	D;D	0.83275	0.97;0.996	T	0.79217	-0.1894	10	0.51188	T	0.08	.	11.2839	0.49210	0.0:0.0:0.0:1.0	.	134;134	E7EQW0;Q13075	.;BIRC1_HUMAN	S	134	ENSP00000428657:N134S;ENSP00000443944:N134S;ENSP00000429545:N134S	ENSP00000443944:N134S	N	-	2	0	NAIP	70344098	1.000000	0.71417	0.961000	0.40146	0.214000	0.24535	4.918000	0.63376	1.673000	0.50895	0.358000	0.22013	AAC		0.488	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		36	126	0	0	0	0.00111076	0	36	126				
RALGAPA2	57186	broad.mit.edu	37	20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:20616166C>T	ENST00000202677.7	-	9	908	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(901-903)Gtt>Att		Ral GTPase activating protein, alpha subunit 2 (catalytic)							145.0	143.0	144.0					20																	20616166		1841	4085	5926	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20616166C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.901G>A	20.37:g.20616166C>T	ENSP00000202677:p.Val301Ile						p.V301I	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			9	1043	-			301					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.901G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.526847|5.526847	0.96431|0.96431	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490	.|T;T	.|0.78595	.|-1.19;-1.19	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.109052	.|0.64402	.|D	.|0.000008	D|D	0.88610|0.88610	0.6483|0.6483	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66196	.|0.942	D|D	0.89423|0.89423	0.3711|0.3711	5|10	.|0.72032	.|D	.|0.01	.|.	19.6557|19.6557	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301	.|Q2PPJ7	.|RGPA2_HUMAN	Y|I	152|301;153;153	.|ENSP00000202677:V301I;ENSP00000400901:V153I	.|ENSP00000202677:V301I	C|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20564166|20564166	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.996000|0.996000	0.88848|0.88848	7.386000|7.386000	0.79775|0.79775	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	TGT|GTT		0.358	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	121	0	0	0	0.00116845	0	6	121				
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418																																						ENST00000382758.1																			1	Substitution - Missense(1)	p.E46D(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(3)	7						c.(136-138)gaG>gaA		N-6 adenine-specific DNA methyltransferase 2 (putative)							215.0	193.0	201.0					13																	21331600		2203	4300	6503	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331600C>T	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.138G>A	13.37:g.21331600C>T						N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR	p.E46E			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	185	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	46					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.138G>A	CCDS9293.1																																																																																				0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		23	57	0	0	0	0.00278032	0	23	57				
PTPN13	5783	broad.mit.edu	37	4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:87703369G>A	ENST00000411767.2	+	37	6041	c.5978G>A	c.(5977-5979)gGg>gAg	p.G1993E	PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000436978.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5992-5994)gGg>gAg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							146.0	141.0	143.0					4																	87703369		1931	4122	6053	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87703369G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5978G>A	4.37:g.87703369G>A	ENSP00000407249:p.Gly1993Glu					PTPN13_ENST00000411767.2_Missense_Mutation_p.G1993E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E	p.G1998E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	37	6473	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1993					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5993G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286621	0.01387	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.47528	0.84;0.87;0.94;0.84;0.87	4.98	1.12	0.20585	.	0.936177	0.08854	N	0.884055	T	0.15305	0.0369	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	.	6.1666	0.20394	0.6942:0.0:0.3058:0.0	.	1802;1974;1993;1998	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	1974;1998;1802;1993;1998;1942	ENSP00000408368:G1974E;ENSP00000394794:G1998E;ENSP00000322675:G1802E;ENSP00000407249:G1993E;ENSP00000426626:G1998E	ENSP00000322675:G1802E	G	+	2	0	PTPN13	87922393	0.013000	0.17824	0.003000	0.11579	0.000000	0.00434	1.258000	0.32944	0.458000	0.26988	-0.300000	0.09419	GGG		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			9	85	0	0	0	0.000978159	0	9	85				
ASB16	92591	broad.mit.edu	37	17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(79-81)Gac>Cac		ankyrin repeat and SOCS box containing 16							21.0	21.0	21.0					17																	42248236		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248236G>C	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.79G>C	17.37:g.42248236G>C	ENSP00000293414:p.Asp27His						p.D27H	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	163	+		Breast(137;0.00765)|Prostate(33;0.0313)	27					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.79G>C	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316620	0.81469	.	.	ENSG00000161664	ENST00000293414	T	0.63913	-0.07	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72272	-0.4342	10	0.66056	D	0.02	-42.4346	17.7963	0.88572	0.0:0.0:1.0:0.0	.	27	Q96NS5	ASB16_HUMAN	H	27	ENSP00000293414:D27H	ENSP00000293414:D27H	D	+	1	0	ASB16	39603762	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	4.426000	0.59882	2.735000	0.93741	0.561000	0.74099	GAC		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			10	45	0	0	0	0.000673444	0	10	45				
CCIN	881	broad.mit.edu	37	9	36170744	36170744	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1243-1245)ggC>ggT		calicin							155.0	112.0	127.0					9																	36170744		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170744C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1245C>T	9.37:g.36170744C>T							p.G415G	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1356	+			415					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1245C>T	CCDS6599.1																																																																																				0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		29	43	0	0	0	0.001512	0	29	43				
LRRC40	55631	broad.mit.edu	37	1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1480-1482)cTg>cAg		leucine rich repeat containing 40							56.0	57.0	56.0					1																	70616847		2200	4293	6493	SO:0001583	missense	55631							g.chr1:70616847A>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1481T>A	1.37:g.70616847A>T	ENSP00000359990:p.Leu494Gln						p.L494Q	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			13	1560	-			494					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1481T>A	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154929	0.57259	.	.	ENSG00000066557	ENST00000370952	T	0.62639	0.01	5.74	4.6	0.57074	.	0.069659	0.53938	D	0.000052	T	0.79446	0.4447	M	0.93939	3.475	0.43536	D	0.995829	D	0.89917	1.0	D	0.80764	0.994	D	0.84989	0.0893	10	0.87932	D	0	.	13.1144	0.59292	0.8663:0.1337:0.0:0.0	.	494	Q9H9A6	LRC40_HUMAN	Q	494	ENSP00000359990:L494Q	ENSP00000359990:L494Q	L	-	2	0	LRRC40	70389435	0.724000	0.28038	0.353000	0.25747	0.532000	0.34746	5.810000	0.69179	0.968000	0.38212	0.533000	0.62120	CTG		0.284	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		10	19	0	0	0	0.000978159	0	10	19				
DNAH9	1770	broad.mit.edu	37	17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:11573072T>G	ENST00000262442.4	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTGGAGCCTCCTGTTCAAA	0.453																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3313-3315)cTc>cGc		dynein, axonemal, heavy chain 9							135.0	135.0	135.0					17																	11573072		2202	4300	6502	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11573072T>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3314T>G	17.37:g.11573072T>G	ENSP00000262442:p.Leu1105Arg					DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3382	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1105			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3314T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150667	0.37923	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26223	1.79;1.75	4.9	4.9	0.64082	.	0.234309	0.34507	N	0.003909	T	0.27663	0.0680	M	0.63843	1.955	0.80722	D	1	B	0.30179	0.271	B	0.28553	0.091	T	0.04693	-1.0933	10	0.27785	T	0.31	.	14.805	0.69945	0.0:0.0:0.0:1.0	.	1105	Q9NYC9	DYH9_HUMAN	R	1105	ENSP00000262442:L1105R;ENSP00000414874:L1105R	ENSP00000262442:L1105R	L	+	2	0	DNAH9	11513797	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.196000	0.72094	1.949000	0.56562	0.482000	0.46254	CTC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	95	0	0	0	0.00170553	0	40	95				
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000339310.3_Silent_p.S54S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(991-993)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		G	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	94.0	101.0		993,717,993	-7.0	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343337G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A						POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron	p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1487	-		Colorectal(252;0.234)	331					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.993C>T	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		15	29	0	0	0	0.000308642	0	15	29				
DPP6	1804	broad.mit.edu	37	7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:154172062G>C	ENST00000377770.3	+	3	538	c.397G>C	c.(397-399)Gta>Cta	p.V133L	DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000404039.1_Missense_Mutation_p.V69L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					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)			GAAGGTCACTGTAGAAGATCT	0.403																																					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.(205-207)Gta>Cta		dipeptidyl-peptidase 6							92.0	89.0	90.0					7																	154172062		1896	4115	6011	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172062G>C	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.397G>C	7.37:g.154172062G>C	ENSP00000367001:p.Val133Leu					DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.V133L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L	p.V69L	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)		3	792	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	133						Missense_Mutation	SNP	ENST00000377770.3	37	c.205G>C		.	.	.	.	.	.	.	.	.	.	G	6.123	0.390986	0.11581	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.16	4.28	0.50868	.	0.203051	0.43747	D	0.000523	T	0.11067	0.0270	.	.	.	0.39772	D	0.972183	B;B;B;B;B;B	0.26081	0.001;0.073;0.027;0.034;0.141;0.034	B;B;B;B;B;B	0.25140	0.003;0.034;0.012;0.008;0.058;0.008	T	0.10965	-1.0607	9	0.02654	T	1	-13.2497	9.734	0.40377	0.096:0.0:0.904:0.0	.	71;71;71;133;133;69	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	L	69;133;133;71;71	ENSP00000385578:V69L;ENSP00000384393:V133L;ENSP00000367001:V133L;ENSP00000328226:V71L;ENSP00000397303:V71L	ENSP00000328226:V71L	V	+	1	0	DPP6	153802995	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	4.430000	0.59907	1.280000	0.44463	0.650000	0.86243	GTA		0.403	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		39	44	0	0	0	0.00170553	0	39	44				
SLC2A2	6514	broad.mit.edu	37	3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATCATCATATCCTCTGAGTCT	0.343																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(793-795)gGa>gAa		solute carrier family 2 (facilitated glucose transporter), member 2							90.0	84.0	86.0					3																	170723243		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170723243C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.794G>A	3.37:g.170723243C>T	ENSP00000323568:p.Gly265Glu					SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	p.G265E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		7	873	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		265					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.794G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622622	0.87460	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.76578	-1.03;-1.03;-1.03	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	H	0.96048	3.76	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.93735	0.7045	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	265	P11168	GTR2_HUMAN	E	265;146;92	ENSP00000323568:G265E;ENSP00000372258:G146E;ENSP00000418888:G92E	ENSP00000323568:G265E	G	-	2	0	SLC2A2	172205937	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	7.414000	0.80117	2.836000	0.97738	0.655000	0.94253	GGA		0.343	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		26	58	0	0	0	0.001512	0	26	58				
SETX	23064	broad.mit.edu	37	9	135204921	135204921	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:135204921G>A	ENST00000224140.5	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000372169.2_Silent_p.C688C|SETX_ENST00000393220.1_Silent_p.C688C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	688					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2062-2064)tgC>tgT		senataxin							78.0	78.0	78.0					9																	135204921		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204921G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2064C>T	9.37:g.135204921G>A						SETX_ENST00000393220.1_Silent_p.C688C|SETX_ENST00000224140.5_Silent_p.C688C	p.C688C			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2246	-		Myeloproliferative disorder(178;0.204)	688					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2064C>T	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		25	43	0	0	0	0.00278032	0	25	43				
CEP250	11190	broad.mit.edu	37	20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2704-2706)Cag>Tag		centrosomal protein 250kDa							119.0	104.0	109.0					20																	34078580		2203	4300	6503	SO:0001587	stop_gained	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34078580C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2704C>T	20.37:g.34078580C>T	ENSP00000380661:p.Gln902*					RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Intron	p.Q902*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		21	3424	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		902			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.2704C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	44	10.604332	0.99436	.	.	ENSG00000126001	ENST00000397527	.	.	.	4.47	4.47	0.54385	.	0.685577	0.13376	N	0.392536	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	.	.	.	X	902	.	ENSP00000380661:Q902X	Q	+	1	0	CEP250	33541994	0.052000	0.20516	0.008000	0.14137	0.092000	0.18411	3.486000	0.53215	2.503000	0.84419	0.555000	0.69702	CAG		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		9	77	0	0	0	0.000442599	0	9	77				
SLC27A6	28965	broad.mit.edu	37	5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(988-990)Cat>Aat		solute carrier family 27 (fatty acid transporter), member 6							107.0	110.0	109.0					5																	128351596		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128351596C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.988C>A	5.37:g.128351596C>A	ENSP00000262462:p.His330Asn					SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N	p.H330N			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	5	1998	+		all_cancers(142;0.0483)|Prostate(80;0.055)	330					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.988C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885414	0.51908	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.49432	2.88;0.78;0.78;0.78	4.03	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.84846	2.72	0.58432	D	0.999997	D	0.65815	0.995	D	0.67382	0.951	T	0.75938	-0.3141	9	.	.	.	-7.1775	17.5651	0.87917	0.0:1.0:0.0:0.0	.	330	Q9Y2P4	S27A6_HUMAN	N	149;330;330;330	ENSP00000421759:H149N;ENSP00000262462:H330N;ENSP00000378684:H330N;ENSP00000421024:H330N	.	H	+	1	0	SLC27A6	128379495	1.000000	0.71417	0.918000	0.36340	0.167000	0.22549	7.082000	0.76851	2.558000	0.86282	0.461000	0.40582	CAT		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	30	1	0	3.86212e-05	0.000673444	0.000144461	11	30				
ZNF844	284391	broad.mit.edu	37	19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383																																						ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1141-1143)Gac>Cac		zinc finger protein 844							42.0	38.0	39.0					19																	12187076		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187076G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1141G>C	19.37:g.12187076G>C	ENSP00000392024:p.Asp381His					ZNF844_ENST00000441304.2_3'UTR	p.D381H	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1316	+			381					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1141G>C	CCDS45985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.338|8.338	0.828009|0.828009	0.16749|0.16749	.|.	.|.	ENSG00000223547|ENSG00000223547	ENST00000535505|ENST00000439326;ENST00000541708	.|T	.|0.05258	.|3.47	2.75|2.75	-5.5|-5.5	0.02576|0.02576	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04770	.|0.0129	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.47673	.|0.554	.|T	.|0.04440	.|-1.0951	.|9	.|0.32370	.|T	.|0.25	.|.	3.4921|3.4921	0.07641|0.07641	0.3835:0.0:0.2123:0.4042|0.3835:0.0:0.2123:0.4042	.|.	.|381	.|Q08AG5	.|ZN844_HUMAN	.|H	-1|381	.|ENSP00000392024:D381H	.|ENSP00000392024:D381H	.|D	+|+	.|1	.|0	ZNF844|ZNF844	12048076|12048076	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.100000|0.100000	0.18952|0.18952	-4.191000|-4.191000	0.00277|0.00277	-1.971000|-1.971000	0.01002|0.01002	0.411000|0.411000	0.27672|0.27672	.|GAC		0.383	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			7	21	0	0	0	0.00198382	0	7	21				
HIST1H2BG	8339	broad.mit.edu	37	6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(31-33)cCg>cGg		histone cluster 1, H2bg							110.0	102.0	105.0					6																	26216840		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216840G>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.32C>G	6.37:g.26216840G>C	ENSP00000244601:p.Pro11Arg						p.P11R	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	32	-		all_hematologic(11;0.196)	11					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.32C>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.952614	0.53293	.	.	ENSG00000187990	ENST00000244601	T	0.22539	1.95	3.9	3.9	0.45041	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.37057	D	0.897897	.	.	.	.	.	.	T	0.17684	-1.0361	6	0.87932	D	0	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	R	11	ENSP00000244601:P11R	ENSP00000244601:P11R	P	-	2	0	HIST1H2BG	26324819	1.000000	0.71417	0.104000	0.21259	0.169000	0.22640	9.377000	0.97184	2.163000	0.67991	0.655000	0.94253	CCG		0.493	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		10	113	0	0	0	0.000442599	0	10	113				
ZNF486	90649	broad.mit.edu	37	19	20308131	20308131	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(610-612)gaT>gaC		zinc finger protein 486							36.0	39.0	38.0					19																	20308131		2116	4253	6369	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308131T>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.612T>C	19.37:g.20308131T>C						CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	p.D204D	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	669	+			204					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.612T>C	CCDS46029.1																																																																																				0.358	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		18	38	0	0	0	0.00074312	0	18	38				
SERTAD1	29950	broad.mit.edu	37	19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(112-114)Ccg>Tcg		SERTA domain containing 1							24.0	28.0	27.0					19																	40929342		2195	4289	6484	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929342G>A	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.112C>T	19.37:g.40929342G>A	ENSP00000350633:p.Pro38Ser						p.P38S	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	270	-			38			SERTA.		Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.112C>T	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	2.759	-0.258289	0.05791	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	5.0	2.76	0.32466	.	0.584002	0.17754	N	0.163133	T	0.26484	0.0647	N	0.22421	0.69	0.09310	N	1	B	0.26081	0.141	B	0.25759	0.063	T	0.17349	-1.0372	10	0.13108	T	0.6	-0.5853	11.6817	0.51461	0.0:0.3427:0.6573:0.0	.	38	Q9UHV2	SRTD1_HUMAN	S	38	ENSP00000350633:P38S	ENSP00000350633:P38S	P	-	1	0	SERTAD1	45621182	0.741000	0.28217	0.004000	0.12327	0.011000	0.07611	1.584000	0.36589	0.460000	0.27045	0.561000	0.74099	CCG		0.647	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		12	21	0	0	0	0.00185496	0	12	21				
ITPR1	3708	broad.mit.edu	37	3	4768850	4768850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:4768850A>G	ENST00000443694.2	+	39	5168	c.5168A>G	c.(5167-5169)cAt>cGt	p.H1723R	ITPR1_ENST00000302640.8_Missense_Mutation_p.H1723R|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1738					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGAAGACCATAAAAGGGTA	0.478																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5167-5169)cAt>cGt		inositol 1,4,5-trisphosphate receptor, type 1							92.0	85.0	87.0					3																	4768850		1568	3582	5150	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4768850A>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5168A>G	3.37:g.4768850A>G	ENSP00000401671:p.His1723Arg					ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.H1723R|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000544951.1_Intron	p.H1723R	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	41	5518	+			1738					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5168A>G	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655297	0.29425	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000426160;ENST00000443694	D;D	0.90324	-2.65;-2.65	5.97	5.97	0.96955	.	0.074804	0.56097	D	0.000035	T	0.77212	0.4097	N	0.02011	-0.69	0.80722	D	1	.	.	.	.	.	.	T	0.76465	-0.2949	8	0.15499	T	0.54	.	11.5191	0.50541	0.8663:0.0:0.0:0.1337	.	.	.	.	R	1738;1723;184;1723	ENSP00000306253:H1723R;ENSP00000401671:H1723R	ENSP00000306253:H1723R	H	+	2	0	ITPR1	4743850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.325000	0.72901	2.281000	0.76405	0.533000	0.62120	CAT		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		17	43	0	0	0	0.00152264	0	17	43				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	50	0	0	0	0.00116845	0	5	50				
CCDC117	150275	broad.mit.edu	37	22	29169754	29169754	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:29169754A>T	ENST00000249064.4	+	2	403	c.227A>T	c.(226-228)gAg>gTg	p.E76V	CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V|CCDC117_ENST00000443309.2_De_novo_Start_OutOfFrame	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	76										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373																																						ENST00000443309.2																			0				breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7								coiled-coil domain containing 117							289.0	254.0	266.0					22																	29169754		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29169754A>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.227A>T	22.37:g.29169754A>T	ENSP00000249064:p.Glu76Val					CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000249064.4_Missense_Mutation_p.E76V				Q8IWD4	CC117_HUMAN			0	122	+								A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Translation_Start_Site	SNP	ENST00000249064.4	37		CCDS13846.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056827	0.76074	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.15834	2.39;2.39	5.24	3.0	0.34707	.	0.384575	0.26136	N	0.026133	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	B;B	0.26809	0.069;0.16	B;B	0.30029	0.11;0.11	T	0.05500	-1.0881	10	0.72032	D	0.01	.	11.0194	0.47709	0.7846:0.2154:0.0:0.0	.	76;76	B7Z2V1;Q8IWD4	.;CC117_HUMAN	V	76	ENSP00000249064:E76V;ENSP00000387827:E76V	ENSP00000249064:E76V	E	+	2	0	CCDC117	27499754	1.000000	0.71417	0.959000	0.39883	0.983000	0.72400	2.172000	0.42463	0.375000	0.24679	0.459000	0.35465	GAG		0.373	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		9	11	0	0	0	0.000442599	0	9	11				
BAZ1A	11177	broad.mit.edu	37	14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	rs116485187		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:35245154C>T	ENST00000382422.2	-	17	3131	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R935H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2803-2805)cGt>cAt		bromodomain adjacent to zinc finger domain, 1A							49.0	49.0	49.0					14																	35245154		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245154C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2804G>A	14.37:g.35245154C>T	ENSP00000371859:p.Arg935His					BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R935H	p.R935H	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	3371	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		935					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2804G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	6.514	0.462991	0.12402	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.72615	-0.67;-0.67;-0.67	5.61	-4.64	0.03349	.	1.126930	0.06415	N	0.721326	T	0.48295	0.1492	N	0.04636	-0.2	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.28839	-1.0031	10	0.33940	T	0.23	.	15.0915	0.72198	0.0:0.6715:0.0:0.3285	.	903;935	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	903;935;935;587	ENSP00000351555:R903H;ENSP00000371859:R935H;ENSP00000353458:R935H	ENSP00000351555:R903H	R	-	2	0	BAZ1A	34314905	0.000000	0.05858	0.137000	0.22149	0.983000	0.72400	-1.850000	0.01670	-0.879000	0.04002	0.655000	0.94253	CGT		0.353	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	29	0	0	0	0.000442599	0	10	29				
SKAP1	8631	broad.mit.edu	37	17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(907-909)tGg>tAg		src kinase associated phosphoprotein 1							103.0	86.0	92.0					17																	46239901		2203	4300	6503	SO:0001587	stop_gained	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46239901C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.908G>A	17.37:g.46239901C>T	ENSP00000338171:p.Trp303*					SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			11	977	-			303			SH3.		D3DTV1|O15268	Nonsense_Mutation	SNP	ENST00000336915.6	37	c.908G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	37	6.426581	0.97559	.	.	ENSG00000141293	ENST00000336915	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000338171:W303X	W	-	2	0	SKAP1	43594900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.317000	0.79018	2.765000	0.95021	0.655000	0.94253	TGG		0.463	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		12	70	0	0	0	0.00185496	0	12	70				
PLPPR4	9890	broad.mit.edu	37	1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L|LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1744-1746)Atg>Ctg									60.0	61.0	61.0					1																	99772018		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772018A>C																												ENST00000370185.3:c.1744A>C	1.37:g.99772018A>C	ENSP00000359204:p.Met582Leu					LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L|LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L	p.M582L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2241	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	582					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1744A>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023946	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.42;2.37;1.89	6.06	6.06	0.98353	.	0.080350	0.85682	D	0.000000	T	0.15609	0.0376	L	0.52126	1.63	0.50813	D	0.999892	B;B	0.19200	0.034;0.025	B;B	0.27887	0.015;0.084	T	0.05338	-1.0891	9	.	.	.	-32.9809	16.6093	0.84858	1.0:0.0:0.0:0.0	.	524;582	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	582;524;424	ENSP00000359204:M582L;ENSP00000394913:M524L;ENSP00000359203:M424L	.	M	+	1	0	RP4-788L13.1	99544606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.837000	0.69381	2.324000	0.78689	0.533000	0.62120	ATG		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			23	47	0	0	0	0.00278032	0	23	47				
PGAP1	80055	broad.mit.edu	37	2	197767327	197767327	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:197767327G>T	ENST00000354764.4	-	5	903	c.789C>A	c.(787-789)acC>acA	p.T263T	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000409188.1_Silent_p.T221T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	263					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAAGGCACTGGTATGATGGC	0.358																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(787-789)acC>acA		post-GPI attachment to proteins 1							87.0	93.0	91.0					2																	197767327		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767327G>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.789C>A	2.37:g.197767327G>T						PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.T221T	p.T263T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			5	903	-			263					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.789C>A	CCDS2318.1																																																																																				0.358	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		16	37	1	0	2.48551e-13	0.000566183	1.05446e-12	16	37				
ARPP21	10777	broad.mit.edu	37	3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2119-2121)Aac>Tac		cAMP-regulated phosphoprotein, 21kDa							158.0	143.0	148.0					3																	35833960		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35833960A>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2119A>T	3.37:g.35833960A>T	ENSP00000187397:p.Asn707Tyr					ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR	p.N707Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			19	2575	+			707			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2119A>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193813	0.58017	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	4.56	0.56223	.	0.573269	0.18527	N	0.138603	T	0.44074	0.1276	L	0.40543	1.245	0.26723	N	0.970739	P;P;B;P	0.52692	0.606;0.955;0.198;0.606	B;P;B;B	0.48089	0.242;0.566;0.113;0.242	T	0.22521	-1.0214	10	0.22109	T	0.4	-1.6253	11.4139	0.49941	0.9297:0.0:0.0703:0.0	.	708;230;707;688	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	Y	708;688;688;707;708	ENSP00000414351:N708Y;ENSP00000337792:N688Y;ENSP00000405276:N688Y;ENSP00000187397:N707Y;ENSP00000412326:N708Y	ENSP00000187397:N707Y	N	+	1	0	ARPP21	35808964	1.000000	0.71417	0.554000	0.28268	0.748000	0.42578	3.530000	0.53539	0.996000	0.38943	0.533000	0.62120	AAC		0.463	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		33	61	0	0	0	0.00178596	0	33	61				
MYH8	4626	broad.mit.edu	37	17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(694-696)Gcc>Ccc		myosin, heavy chain 8, skeletal muscle, perinatal							133.0	135.0	135.0					17																	10318656		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318656C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.694G>C	17.37:g.10318656C>G	ENSP00000384330:p.Ala232Pro					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A232P	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			8	788	-			232			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.694G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555152	0.86231	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82893	-1.66	4.53	4.53	0.55603	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000884	D	0.94670	0.8281	H	0.98068	4.14	0.80722	D	1	P	0.50617	0.937	D	0.75020	0.985	D	0.96755	0.9557	10	0.87932	D	0	.	17.4462	0.87579	0.0:1.0:0.0:0.0	.	232	P13535	MYH8_HUMAN	P	232	ENSP00000384330:A232P	ENSP00000252173:A232P	A	-	1	0	MYH8	10259381	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.522000	0.81844	2.356000	0.79943	0.655000	0.94253	GCC		0.502	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		28	75	0	0	0	0.00127121	0	28	75				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	136	0	0	0	0.00024832	0	4	136				
CDH9	1007	broad.mit.edu	37	5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A	rs183180776	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318													G|||	4	0.000798722	0.0	0.0058	5008	,	,		15449	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(814-816)aCg>aTg		cadherin 9, type 2 (T1-cadherin)		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	89.0	83.0	85.0		815	5.8	1.0	5		85	0,8598		0,0,4299	yes	missense	CDH9	NM_016279.3	81	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	272/790	26903930	2,13002	2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903930G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.815C>T	5.37:g.26903930G>A	ENSP00000231021:p.Thr272Met						p.T272M	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	987	-			272			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.815C>T	CCDS3893.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	13.07	2.126028	0.37533	4.54E-4	0.0	ENSG00000113100	ENST00000231021	T	0.38887	1.11	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.253267	0.40728	N	0.001026	T	0.27900	0.0687	L	0.45470	1.425	0.36323	D	0.858353	B	0.27594	0.182	B	0.26969	0.075	T	0.26258	-1.0108	9	.	.	.	.	12.2865	0.54795	0.078:0.0:0.922:0.0	.	272	Q9ULB4	CADH9_HUMAN	M	272	ENSP00000231021:T272M	.	T	-	2	0	CDH9	26939687	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	3.780000	0.55386	2.885000	0.99019	0.655000	0.94253	ACG		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	28	0	0	0	0.00198382	0	7	28				
ARHGAP29	9411	broad.mit.edu	37	1	94669495	94669495	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGAATTCCAATGTTAGTTC	0.338																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(751-753)atT>atC		Rho GTPase activating protein 29							81.0	80.0	80.0					1																	94669495		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94669495A>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.753T>C	1.37:g.94669495A>G						ARHGAP29_ENST00000370217.3_Silent_p.I251I	p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	8	935	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	251					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.753T>C	CCDS748.1																																																																																				0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		7	26	0	0	0	0.000157383	0	7	26				
ZNF568	374900	broad.mit.edu	37	19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:37441482G>A	ENST00000333987.7	+	7	1933	c.1427G>A	c.(1426-1428)tGc>tAc	p.C476Y	ZNF568_ENST00000415168.1_Missense_Mutation_p.C412Y|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAGTGAATGT	0.393																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1234-1236)tGc>tAc		zinc finger protein 568							58.0	63.0	61.0					19																	37441482		2202	4300	6502	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441482G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1427G>A	19.37:g.37441482G>A	ENSP00000334685:p.Cys476Tyr					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.C476Y	p.C412Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1611	+	Esophageal squamous(110;0.183)		476					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1235G>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175969	0.57692	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85088	-1.94;-1.94	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36665	N	0.002468	D	0.94810	0.8324	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96175	0.9126	10	0.72032	D	0.01	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	476	Q3ZCX4	ZN568_HUMAN	Y	476;412	ENSP00000334685:C476Y;ENSP00000394514:C412Y	ENSP00000334685:C476Y	C	+	2	0	ZNF568	42133322	1.000000	0.71417	0.975000	0.42487	0.635000	0.38103	7.104000	0.77024	2.204000	0.70986	0.467000	0.42956	TGC		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		20	61	0	0	0	0.00121646	0	20	61				
HFM1	164045	broad.mit.edu	37	1	91859650	91859650	+	Splice_Site	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494G>C	c.(493-495)aGa>aCa	p.R165T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		taataattaCCTTTTCCGGAA	0.289																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.e4+1		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							28.0	30.0	30.0					1																	91859650		2194	4285	6479	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859650C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.494+1G>C	1.37:g.91859650C>G						HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.R165_splice	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	592	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	165					B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37	c.494_splice	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326733	0.41197	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60299	0.2;1.31	4.34	4.34	0.51931	.	6.927540	0.01639	U	0.023941	T	0.33876	0.0878	L	0.27053	0.805	0.80722	D	1	P;P	0.47762	0.9;0.51	B;B	0.39419	0.299;0.098	T	0.30060	-0.9991	9	.	.	.	.	13.0581	0.58992	0.0:1.0:0.0:0.0	.	165;165	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	165;198;123	ENSP00000359454:R165T;ENSP00000388900:R123T	.	R	-	2	0	HFM1	91632238	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.651000	0.54431	2.373000	0.80994	0.591000	0.81541	AGA		0.289	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	9	10	0	0	0	0.000274275	0	9	10				
PXDN	7837	broad.mit.edu	37	2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3595-3597)gAg>gGg		peroxidasin homolog (Drosophila)							104.0	113.0	110.0					2																	1651956		2002	4174	6176	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651956T>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3596A>G	2.37:g.1651956T>C	ENSP00000252804:p.Glu1199Gly						p.E1199G	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3646	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1199					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3596A>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682704	0.68157	.	.	ENSG00000130508	ENST00000252804	T	0.70516	-0.49	5.48	4.26	0.50523	.	0.170105	0.51477	D	0.000082	T	0.77618	0.4157	M	0.81112	2.525	0.54753	D	0.999985	P	0.48294	0.908	P	0.50537	0.643	T	0.81212	-0.1035	10	0.62326	D	0.03	-41.6678	12.2124	0.54388	0.0:0.0:0.1422:0.8578	.	1199	Q92626	PXDN_HUMAN	G	1199	ENSP00000252804:E1199G	ENSP00000252804:E1199G	E	-	2	0	PXDN	1630963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.158000	0.71851	2.092000	0.63282	0.529000	0.55759	GAG		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		34	202	0	0	0	0.00058488	0	34	202				
HSPA4L	22824	broad.mit.edu	37	4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:128732697C>T	ENST00000296464.4	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1483-1485)gCa>gTa		heat shock 70kDa protein 4-like							97.0	92.0	94.0					4																	128732697		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128732697C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1484C>T	4.37:g.128732697C>T	ENSP00000296464:p.Ala495Val					HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V	p.A495V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			12	1895	+			495					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1484C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088300	0.94100	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.37561	1.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.59768	-0.7392	10	0.49607	T	0.09	.	17.4607	0.87619	0.0:1.0:0.0:0.0	.	469;495;495	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	V	495;526;495;454;469	ENSP00000422482:A495V;ENSP00000393926:A526V;ENSP00000296464:A495V;ENSP00000427305:A454V;ENSP00000425645:A469V	ENSP00000296464:A495V	A	+	2	0	HSPA4L	128952147	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.036000	0.76524	2.311000	0.77944	0.650000	0.86243	GCA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		8	26	0	0	0	0.000157383	0	8	26				
TCEAL2	140597	broad.mit.edu	37	X	101382277	101382277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(475-477)Gat>Tat		transcription elongation factor A (SII)-like 2							128.0	124.0	126.0					X																	101382277		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382277G>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.475G>T	X.37:g.101382277G>T	ENSP00000361866:p.Asp159Tyr					TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	694	+			159					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.475G>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055354	0.55325	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.10099	2.91;2.91	3.17	1.37	0.22104	.	0.279161	0.25786	N	0.028313	T	0.20780	0.0500	L	0.55103	1.725	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03807	-1.1002	10	0.87932	D	0	.	4.7363	0.12989	0.314:0.0:0.686:0.0	.	159	Q9H3H9	TCAL2_HUMAN	Y	159	ENSP00000361866:D159Y;ENSP00000332359:D159Y	ENSP00000332359:D159Y	D	+	1	0	TCEAL2	101268933	0.006000	0.16342	0.003000	0.11579	0.874000	0.50279	1.108000	0.31123	0.234000	0.21139	0.594000	0.82650	GAT		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		11	58	1	0	1.33987e-11	0.000673444	5.56387e-11	11	58				
PSG7	5676	broad.mit.edu	37	19	43433722	43433722	+	RNA	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:43433722T>A	ENST00000406070.2	-	0	677				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							295.0	296.0	295.0					19																	43433722		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433722T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433722T>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	677	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		138	254	0	0	0	0.000781405	0	138	254				
ALPK3	57538	broad.mit.edu	37	15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGTGGATGCTGGGACACA	0.547																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2533-2535)Gct>Tct		alpha-kinase 3							163.0	137.0	146.0					15																	85399896		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399896G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2533G>T	15.37:g.85399896G>T	ENSP00000258888:p.Ala845Ser						p.A845S	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2700	+			845					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2533G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	9.651	1.141519	0.21205	.	.	ENSG00000136383	ENST00000258888	T	0.59906	0.23	4.29	2.4	0.29515	.	5.485570	0.00810	N	0.001480	T	0.44829	0.1312	N	0.19112	0.55	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.27706	-1.0066	10	0.22706	T	0.39	-0.2174	8.5396	0.33384	0.1934:0.0:0.8066:0.0	.	845	Q96L96	ALPK3_HUMAN	S	845	ENSP00000258888:A845S	ENSP00000258888:A845S	A	+	1	0	ALPK3	83200900	0.000000	0.05858	0.011000	0.14972	0.093000	0.18481	-0.010000	0.12743	0.391000	0.25143	0.467000	0.42956	GCT		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		9	26	1	0	5.4927e-09	0.000274275	2.22432e-08	9	26				
HIVEP3	59269	broad.mit.edu	37	1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:41978886T>A	ENST00000372583.1	-	8	6891	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGCCTGTGGTTCTCGGGCCG	0.632																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6004-6006)gaA>gaT		human immunodeficiency virus type I enhancer binding protein 3							48.0	57.0	54.0					1																	41978886		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978886T>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6006A>T	1.37:g.41978886T>A	ENSP00000361664:p.Glu2002Asp					HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2002D	p.E2002D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7020	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2002					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6006A>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587687	0.46110	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06294	3.33;3.32;3.32;3.33	3.79	-5.21	0.02815	.	0.290096	0.24513	N	0.037867	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.33929	-0.9849	10	0.36615	T	0.2	-5.7312	6.3979	0.21622	0.1111:0.6277:0.1117:0.1494	.	2002;2002	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	2002	ENSP00000361665:E2002D;ENSP00000361664:E2002D;ENSP00000247584:E2002D;ENSP00000410828:E2002D	ENSP00000247584:E2002D	E	-	3	2	HIVEP3	41751473	0.000000	0.05858	0.023000	0.16930	0.890000	0.51754	-1.220000	0.02971	-0.808000	0.04387	-0.256000	0.11100	GAA		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		30	44	0	0	0	0.001512	0	30	44				
CD84	8832	broad.mit.edu	37	1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:160520798G>C	ENST00000311224.4	-	6	905	c.839C>G	c.(838-840)aCa>aGa	p.T280R	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.T263R|CD84_ENST00000368051.3_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000534968.1_Missense_Mutation_p.T149R	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(787-789)aCa>aGa		CD84 molecule							235.0	230.0	232.0					1																	160520798		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160520798G>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.839C>G	1.37:g.160520798G>C	ENSP00000312367:p.Thr280Arg					CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Missense_Mutation_p.T149R|CD84_ENST00000311224.4_Missense_Mutation_p.T280R|RP11-528G1.2_ENST00000446952.1_RNA	p.T263R	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	823	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		280					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.788C>G	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159434	0.21454	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	T;T;T;T	0.60299	2.47;0.25;1.13;0.2	4.2	3.25	0.37280	.	3.509730	0.01238	N	0.008536	T	0.33030	0.0849	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.27351	0.091;0.002;0.176;0.023	B;B;B;B	0.24541	0.027;0.007;0.054;0.027	T	0.16482	-1.0401	10	0.19590	T	0.45	-0.0023	8.5973	0.33723	0.0:0.0:0.7116:0.2884	.	149;280;274;263	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;SLAF5_HUMAN;.;.	R	149;263;274;280	ENSP00000442845:T149R;ENSP00000357033:T263R;ENSP00000357027:T274R;ENSP00000312367:T280R	ENSP00000312367:T280R	T	-	2	0	CD84	158787422	0.004000	0.15560	0.001000	0.08648	0.047000	0.14425	0.933000	0.28897	1.269000	0.44280	0.650000	0.86243	ACA		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		20	318	0	0	0	0.00121646	0	20	318				
RGPD4	285190	broad.mit.edu	37	2	108488441	108488441	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3979-3981)gaA>gaG		RANBP2-like and GRIP domain containing 4							16.0	14.0	14.0					2																	108488441		692	1577	2269	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108488441A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3981A>G	2.37:g.108488441A>G						RGPD4_ENST00000354986.4_Silent_p.E1327E	p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4058	+			1327					B9A029	Silent	SNP	ENST00000408999.3	37	c.3981A>G	CCDS46381.1																																																																																				0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		17	233	0	0	0	0.00278032	0	17	233				
SNHG14	104472715	broad.mit.edu	37	15	25451254	25451254	+	RNA	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25451254C>A	ENST00000424208.1	+	0	2384				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGGAAGACCCCGTGGCTCTG	0.642																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25451254C>A			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.25451254C>A						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.642	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	17	1	0	7.03913e-09	0.00136819	2.83882e-08	13	17				
PLG	5340	broad.mit.edu	37	6	161159606	161159606	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1837-1839)tcC>tcT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						152.0	140.0	144.0					6																	161159606		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161159606C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1839C>T	6.37:g.161159606C>T							p.S613S	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	15	1902	+			613			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1839C>T	CCDS5279.1																																																																																				0.403	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	60	0	0	0	0.000814825	0	30	60				
FCN1	2219	broad.mit.edu	37	9	137809628	137809628	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(88-90)gcG>gcA		ficolin (collagen/fibrinogen domain containing) 1							81.0	75.0	77.0					9																	137809628		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809628C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.90G>A	9.37:g.137809628C>T							p.A30A	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	181	-		Myeloproliferative disorder(178;0.0333)	30					Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.90G>A	CCDS6985.1																																																																																				0.572	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		23	42	0	0	0	0.000720815	0	23	42				
SULT1B1	27284	broad.mit.edu	37	4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:70620403C>A	ENST00000310613.3	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(262-264)Gga>Tga		sulfotransferase family, cytosolic, 1B, member 1							90.0	98.0	95.0					4																	70620403		2203	4298	6501	SO:0001587	stop_gained	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620403C>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.262G>T	4.37:g.70620403C>A	ENSP00000308770:p.Gly88*						p.G88*	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			3	559	-			88					O15497|Q96FI1|Q9UK34	Nonsense_Mutation	SNP	ENST00000310613.3	37	c.262G>T	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195585	0.78902	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	.	.	.	4.9	4.06	0.47325	.	0.363413	0.19507	U	0.112618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.1	0.48168	0.0:0.9084:0.0:0.0916	.	.	.	.	X	88;88;69	.	ENSP00000308770:G88X	G	-	1	0	SULT1B1	70654992	0.710000	0.27896	0.582000	0.28627	0.034000	0.12701	2.036000	0.41165	1.217000	0.43442	0.585000	0.79938	GGA		0.299	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		28	70	1	0	9.65021e-13	0.00209593	4.07638e-12	28	70				
GRK5	2869	broad.mit.edu	37	10	121182709	121182709	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:121182709A>C	ENST00000392870.2	+	5	700	c.371A>C	c.(370-372)gAc>gCc	p.D124A	GRK5_ENST00000369108.3_Missense_Mutation_p.D19A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	124	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGCCAAGACCTGGTCTCC	0.582																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(370-372)gAc>gCc		G protein-coupled receptor kinase 5							249.0	249.0	249.0					10																	121182709		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121182709A>C	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.371A>C	10.37:g.121182709A>C	ENSP00000376609:p.Asp124Ala					GRK5_ENST00000369108.3_Missense_Mutation_p.D19A	p.D124A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	5	700	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	124			N-terminal.|RGS.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.371A>C	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518408	0.44763	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.01854	4.6;4.6	4.71	4.71	0.59529	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000012	T	0.03011	0.0089	L	0.45352	1.415	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.51228	-0.8732	10	0.24483	T	0.36	-13.7033	14.2087	0.65750	1.0:0.0:0.0:0.0	.	124;124	B2R7K0;P34947	.;GRK5_HUMAN	A	124;19;19	ENSP00000376609:D124A;ENSP00000358104:D19A	ENSP00000358104:D19A	D	+	2	0	GRK5	121172699	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	3.831000	0.55776	1.760000	0.52011	0.460000	0.39030	GAC		0.582	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		51	152	0	0	0	0.000781405	0	51	152				
RXRG	6258	broad.mit.edu	37	1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(52-54)tCc>tTc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						43.0	39.0	41.0					1																	165398200		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398200G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.53C>T	1.37:g.165398200G>A	ENSP00000352900:p.Ser18Phe						p.S18F	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			2	355	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		18			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.53C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067760	0.55539	.	.	ENSG00000143171	ENST00000359842	D	0.93189	-3.18	4.56	4.56	0.56223	.	0.926309	0.09347	N	0.814646	D	0.87030	0.6076	L	0.27053	0.805	0.41198	D	0.986358	B	0.26258	0.145	B	0.33521	0.165	T	0.80188	-0.1486	9	0.52906	T	0.07	.	16.0757	0.80967	0.0:0.0:1.0:0.0	.	18	P48443	RXRG_HUMAN	F	18	ENSP00000352900:S18F	ENSP00000352900:S18F	S	-	2	0	RXRG	163664824	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.702000	0.84576	2.359000	0.80004	0.561000	0.74099	TCC		0.567	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		18	22	0	0	0	0.00121646	0	18	22				
TSHZ1	10194	broad.mit.edu	37	18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A	rs557571956		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:73000493G>A	ENST00000580243.1	+	2	3479	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	TSHZ1_ENST00000322038.5_Missense_Mutation_p.R999Q			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19559	0.0		0.0	False		,,,				2504	0.0					ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2995-2997)cGg>cAg		teashirt zinc finger homeobox 1							80.0	83.0	82.0					18																	73000493		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000493G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3131G>A	18.37:g.73000493G>A	ENSP00000464391:p.Arg1044Gln					TSHZ1_ENST00000580243.1_Missense_Mutation_p.R1044Q	p.R999Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3580	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	1044					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2996G>A		.	.	.	.	.	.	.	.	.	.	G	14.10	2.435311	0.43224	.	.	ENSG00000179981	ENST00000322038	T	0.42131	0.98	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.49126	1.545	0.41978	D	0.990782	D	0.89917	1.0	D	0.87578	0.998	T	0.66329	-0.5951	10	0.87932	D	0	-38.0559	19.3064	0.94164	0.0:0.0:1.0:0.0	.	1044	Q6ZSZ6	TSH1_HUMAN	Q	999	ENSP00000323584:R999Q	ENSP00000323584:R999Q	R	+	2	0	TSHZ1	71129481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.378000	0.46305	0.655000	0.94253	CGG		0.532	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		24	53	0	0	0	0.000586117	0	24	53				
SIPA1L3	23094	broad.mit.edu	37	19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3679-3681)Cct>Gct		signal-induced proliferation-associated 1 like 3							86.0	79.0	81.0					19																	38652910		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38652910C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3679C>G	19.37:g.38652910C>G	ENSP00000222345:p.Pro1227Ala						p.P1227A	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4188	+			1227					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3679C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310117	0.81358	.	.	ENSG00000105738	ENST00000222345	T	0.54479	0.57	4.62	4.62	0.57501	.	0.064283	0.64402	D	0.000006	T	0.58075	0.2097	M	0.66297	2.02	0.58432	D	0.999992	P	0.47762	0.9	P	0.45794	0.493	T	0.66356	-0.5944	10	0.72032	D	0.01	-22.1853	16.2461	0.82446	0.0:1.0:0.0:0.0	.	1227	O60292	SI1L3_HUMAN	A	1227	ENSP00000222345:P1227A	ENSP00000222345:P1227A	P	+	1	0	SIPA1L3	43344750	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.240000	0.72363	2.117000	0.64856	0.563000	0.77884	CCT		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	51	0	0	0	0.00024832	0	4	51				
ROCK2	9475	broad.mit.edu	37	2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTACCATGCCTGTCTGCATG	0.373																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(727-729)Ggc>Agc		Rho-associated, coiled-coil containing protein kinase 2							186.0	181.0	182.0					2																	11367521		1909	4145	6054	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11367521C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.727G>A	2.37:g.11367521C>T	ENSP00000317985:p.Gly243Ser					ROCK2_ENST00000401753.1_5'UTR	p.G243S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1175	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		243			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.727G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815408	0.90790	.	.	ENSG00000134318	ENST00000315872;ENST00000431087	T;T	0.62788	0.0;1.55	4.95	4.95	0.65309	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	T	0.65144	0.2663	N	0.11106	0.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73452	-0.3978	10	0.66056	D	0.02	.	18.5343	0.91004	0.0:1.0:0.0:0.0	.	243	O75116	ROCK2_HUMAN	S	243;70	ENSP00000317985:G243S;ENSP00000395957:G70S	ENSP00000261535:G243S	G	-	1	0	ROCK2	11284972	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.818000	0.86416	2.444000	0.82710	0.585000	0.79938	GGC		0.373	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			54	130	0	0	0	0.000781405	0	54	130				
FAT1	2195	broad.mit.edu	37	4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4006-4008)tCa>tGa		FAT atypical cadherin 1							85.0	81.0	82.0					4																	187557355		1932	4146	6078	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557355G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4007C>G	4.37:g.187557355G>C	ENSP00000406229:p.Ser1336*	HNSCC(5;0.00058)					p.S1336*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			6	4216	-			1336			Cadherin 11.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4007C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.662106	0.99588	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.55	4.7	0.59300	.	0.197059	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.5615	0.84567	0.0:0.1304:0.8695:0.0	.	.	.	.	X	1336	.	ENSP00000260147:S1336X	S	-	2	0	FAT1	187794349	1.000000	0.71417	0.949000	0.38748	0.954000	0.61252	7.418000	0.80167	1.549000	0.49425	0.655000	0.94253	TCA		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	36	0	0	0	0.00121646	0	15	36				
SLC8A3	6547	broad.mit.edu	37	14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(238-240)Tat>Cat		solute carrier family 8 (sodium/calcium exchanger), member 3							77.0	68.0	71.0					14																	70634902		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634902A>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.238T>C	14.37:g.70634902A>G	ENSP00000370669:p.Tyr80His					SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H	p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	991	-			80					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.238T>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072765	0.55646	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.60424	0.26;0.19;0.33;0.27;0.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.998	D;D;D;D	0.85130	0.997;0.997;0.979;0.986	T	0.81675	-0.0825	10	0.87932	D	0	.	14.8144	0.70020	1.0:0.0:0.0:0.0	.	80;80;80;80	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	80	ENSP00000349392:Y80H;ENSP00000370669:Y80H;ENSP00000350560:Y80H;ENSP00000436688:Y80H;ENSP00000433531:Y80H	ENSP00000349392:Y80H	Y	-	1	0	SLC8A3	69704655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.085000	0.62840	0.533000	0.62120	TAT		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	24	0	0	0	0.00136819	0	12	24				
LIX1	167410	broad.mit.edu	37	5	96478236	96478236	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(43-45)gtC>gtT		Lix1 homolog (chicken)							186.0	156.0	166.0					5																	96478236		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96478236G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.45C>T	5.37:g.96478236G>A						CTD-2215E18.1_ENST00000509481.1_Intron	p.V15V	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	1	340	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	15					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.45C>T	CCDS4088.1																																																																																				0.453	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		6	55	0	0	0	0.000157383	0	6	55				
PCDHA13	56136	broad.mit.edu	37	5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	rs144000682		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	358	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(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1072-1074)cCc>cTc									103.0	104.0	104.0					5																	140262926		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140262926C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1073C>T	5.37:g.140262926C>T	ENSP00000289272:p.Pro358Leu					PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.P358L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1073	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1073C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412478	0.62511	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.72	5.44	4.55	0.56014	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70945	0.3282	M	0.85462	2.755	0.46631	D	0.999136	D;D;D	0.71674	0.998;0.989;0.997	D;D;D	0.70016	0.967;0.948;0.936	T	0.77104	-0.2711	9	0.87932	D	0	.	14.9423	0.71003	0.1444:0.8556:0.0:0.0	.	358;358;358	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	358	ENSP00000386821:P358L;ENSP00000289272:P358L	ENSP00000289272:P358L	P	+	2	0	PCDHA13	140243110	0.062000	0.20869	0.027000	0.17364	0.962000	0.63368	2.093000	0.41710	1.231000	0.43661	0.561000	0.74099	CCC		0.488	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		23	57	0	0	0	0.00278032	0	23	57				
TMCC2	9911	broad.mit.edu	37	1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1021-1023)Cag>Tag		transmembrane and coiled-coil domain family 2							58.0	47.0	51.0					1																	205238351		2203	4300	6503	SO:0001587	stop_gained	9911					integral to membrane	protein binding	g.chr1:205238351C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1021C>T	1.37:g.205238351C>T	ENSP00000350718:p.Gln341*					TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*	p.Q341*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1410	+	Breast(84;0.0871)		341					A2RRH3|B7Z1P7|Q6ZN09	Nonsense_Mutation	SNP	ENST00000358024.3	37	c.1021C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828854	0.96996	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3957	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	341;263;145;116;101	.	ENSP00000329436:Q101X	Q	+	1	0	TMCC2	203504974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.687000	0.91594	0.462000	0.41574	CAG		0.592	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		4	45	0	0	0	0.00024832	0	4	45				
ANKRD20A8P	729171	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	G	A	rs575260943		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:95513821G>A	ENST00000432432.2	-	0	790				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGTCTTGAGCGAAGACATCAA	0.353													.|||	1	0.000199681	0.0	0.0014	5008	,	,		25134	0.0		0.0	False		,,,				2504	0.0					ENST00000432432.2																			0																																																			729171							g.chr2:95513821G>A			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.95513821G>A								NR_040113.1						0	790	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.353	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			43	705	0	0	0	0.0025221	0	43	705				
NRP2	8828	broad.mit.edu	37	2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:206590770G>T	ENST00000357785.5	+	6	985	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000360409.3_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(952-954)tgG>tgT		neuropilin 2							118.0	101.0	106.0					2																	206590770		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590770G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.954G>T	2.37:g.206590770G>T	ENSP00000350432:p.Trp318Cys					NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000357785.5_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000417189.1_Missense_Mutation_p.W318C	p.W318C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1745	+			318			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.954G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781011	0.90282	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.8	5.8	0.92144	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.99404	4.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.996;0.982;0.996;0.996;0.96	D	0.96197	0.9142	10	0.62326	D	0.03	-15.6795	20.063	0.97692	0.0:0.0:1.0:0.0	.	318;318;318;318;318;318	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	318	ENSP00000353582:W318C;ENSP00000439658:W318C;ENSP00000439261:W318C;ENSP00000347238:W318C;ENSP00000387519:W318C;ENSP00000349632:W318C;ENSP00000350432:W318C;ENSP00000407626:W318C;ENSP00000272849:W318C	ENSP00000272849:W318C	W	+	3	0	NRP2	206299015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	TGG		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			15	40	1	0	1.52009e-12	0.000308642	6.36619e-12	15	40				
SI	6476	broad.mit.edu	37	3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTTCTCTGGCCCACCACTC	0.383										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4123-4125)gCc>gAc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						90.0	91.0	91.0					3																	164727122		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727122G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4124C>A	3.37:g.164727122G>T	ENSP00000264382:p.Ala1375Asp	HNSCC(35;0.089)					p.A1375D	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			35	4186	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1375			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4124C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266393	0.01433	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	4.51	1.52	0.23074	Glycoside hydrolase, superfamily (1);	1.351880	0.04409	N	0.365652	D	0.90242	0.6949	M	0.69823	2.125	0.09310	N	1	B	0.27229	0.172	B	0.33121	0.158	T	0.73304	-0.4025	10	0.30854	T	0.27	.	8.1246	0.30990	0.0827:0.0:0.2687:0.6486	.	1375	P14410	SUIS_HUMAN	D	1375	ENSP00000264382:A1375D	ENSP00000264382:A1375D	A	-	2	0	SI	166209816	0.000000	0.05858	0.013000	0.15412	0.059000	0.15707	0.128000	0.15810	0.097000	0.17492	-0.500000	0.04577	GCC		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	57	1	0	1.45105e-14	0.00074312	6.18274e-14	18	57				
NSA2	10412	broad.mit.edu	37	5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000296805.3_5'Flank|NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(40-42)Tat>Aat		NSA2 ribosome biogenesis homolog (S. cerevisiae)							34.0	35.0	35.0					5																	74064792		2202	4299	6501	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74064792T>A	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.40T>A	5.37:g.74064792T>A	ENSP00000296802:p.Tyr14Asn					NSA2_ENST00000513356.1_3'UTR	p.Y14N	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			2	409	+			14						Missense_Mutation	SNP	ENST00000296802.5	37	c.40T>A	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504354	0.64410	.	.	ENSG00000164346	ENST00000296802	T	0.29655	1.56	5.74	4.58	0.56647	.	0.054504	0.85682	D	0.000000	T	0.34077	0.0885	L	0.60455	1.87	0.80722	D	1	B	0.26845	0.161	B	0.33339	0.162	T	0.14952	-1.0454	10	0.59425	D	0.04	.	11.9243	0.52810	0.0:0.0679:0.0:0.9321	.	14	O95478	NSA2_HUMAN	N	14	ENSP00000296802:Y14N	ENSP00000296802:Y14N	Y	+	1	0	NSA2	74100548	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.585000	0.53943	1.128000	0.42052	-0.256000	0.11100	TAT		0.328	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		5	9	0	0	0	0.00198382	0	5	9				
ZNF385D	79750	broad.mit.edu	37	3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(109-111)Ctt>Att		zinc finger protein 385D							110.0	104.0	106.0					3																	21706434		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706434G>T	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.109C>A	3.37:g.21706434G>T	ENSP00000281523:p.Leu37Ile					ZNF385D_ENST00000494118.1_Intron	p.L37I	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			2	627	-			37						Missense_Mutation	SNP	ENST00000281523.2	37	c.109C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698089	0.88830	.	.	ENSG00000151789	ENST00000281523	T	0.45276	0.9	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.41492	1.28	0.33113	D	0.540818	P	0.46578	0.88	P	0.62184	0.899	T	0.64702	-0.6345	10	0.62326	D	0.03	0.2105	18.4189	0.90582	0.0:0.0:1.0:0.0	.	37	Q9H6B1	Z385D_HUMAN	I	37	ENSP00000281523:L37I	ENSP00000281523:L37I	L	-	1	0	ZNF385D	21681438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.114000	0.77103	2.604000	0.88044	0.591000	0.81541	CTT		0.512	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	23	1	0	2.74318e-10	0.000442599	1.12013e-09	10	23				
MYPN	84665	broad.mit.edu	37	10	69925475	69925475	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000354393.2_Silent_p.L225L|MYPN_ENST00000540630.1_Silent_p.L500L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.				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						TTTGCACCTTGGTCATTGCTG	0.413																																						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.(1498-1500)ttG>ttA		myopalladin							135.0	115.0	122.0					10																	69925475		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69925475G>A	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.1500G>A	10.37:g.69925475G>A						MYPN_ENST00000354393.2_Silent_p.L225L|MYPN_ENST00000540630.1_Silent_p.L500L	p.L500L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			9	1988	+			500			Ig-like 2.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.1500G>A	CCDS7275.1																																																																																				0.413	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	44	0	0	0	0.00198382	0	5	44				
BRCA1	672	broad.mit.edu	37	17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	rs70953661|rs80357833		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:41222997C>A	ENST00000357654.3	-	15	5052	c.4934G>T	c.(4933-4935)aGg>aTg	p.R1645M	BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1349M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(4045-4047)aGg>aTg	Homologous recombination	breast cancer 1, early onset							182.0	153.0	162.0					17																	41222997		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41222997C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4934G>T	17.37:g.41222997C>A	ENSP00000350283:p.Arg1645Met	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645M|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M	p.R1349M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	5073	-		Breast(137;0.000717)	1645					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4046G>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368557	0.61624	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	4.6	0.213	0.15244	BRCT (3);	1.089510	0.06997	N	0.822710	D	0.87740	0.6253	L	0.59436	1.845	0.09310	N	1	D;P;D;P;D;D;B;D	0.61697	0.983;0.956;0.97;0.955;0.97;0.983;0.051;0.99	P;B;B;P;B;P;B;P	0.53313	0.533;0.436;0.343;0.548;0.436;0.533;0.01;0.723	T	0.75190	-0.3405	10	0.87932	D	0	.	5.1554	0.15032	0.0:0.4905:0.3248:0.1847	.	541;494;540;542;541;1667;1645;1645	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	M	1645;1666;503;462;1349;541;494;1667;1598;540;541;416;495	ENSP00000350283:R1645M;ENSP00000312236:R503M;ENSP00000338007:R462M;ENSP00000310938:R1349M;ENSP00000417148:R541M;ENSP00000377294:R494M;ENSP00000418775:R1598M;ENSP00000420412:R541M;ENSP00000419481:R416M;ENSP00000418819:R495M	ENSP00000310938:R1349M	R	-	2	0	BRCA1	38476523	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.344000	0.07780	0.011000	0.14865	0.655000	0.94253	AGG		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		59	64	1	0	3.00063e-23	0.000781405	1.34275e-22	59	64				
GRB10	2887	broad.mit.edu	37	7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:50682481C>A	ENST00000401949.1	-	12	1550	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000403097.1_Missense_Mutation_p.G355W|GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1063-1065)Ggg>Tgg		growth factor receptor-bound protein 10							136.0	145.0	142.0					7																	50682481		2116	4223	6339	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50682481C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1081G>T	7.37:g.50682481C>A	ENSP00000385770:p.Gly361Trp					GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000401949.1_Missense_Mutation_p.G361W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W	p.G355W			Q13322	GRB10_HUMAN			11	1843	-	Glioma(55;0.08)|all_neural(89;0.245)		361			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1063G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179514	0.78564	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;2.23;-0.97;-0.97;-0.97	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.207952	0.51477	D	0.000095	D	0.87442	0.6178	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.88524	0.3098	10	0.66056	D	0.02	-29.3453	19.1837	0.93633	0.0:1.0:0.0:0.0	.	355;315;361	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	W	361;355;303;303;303;355;303;315;303;361;303	ENSP00000381793:G361W;ENSP00000406716:G355W;ENSP00000338543:G303W;ENSP00000381790:G303W;ENSP00000385189:G303W;ENSP00000385544:G355W;ENSP00000385366:G303W;ENSP00000349818:G315W;ENSP00000385046:G303W;ENSP00000385770:G361W;ENSP00000385748:G303W	ENSP00000338543:G303W	G	-	1	0	GRB10	50649975	1.000000	0.71417	0.971000	0.41717	0.870000	0.49936	4.917000	0.63369	2.523000	0.85059	0.655000	0.94253	GGG		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			31	68	1	0	8.16721e-17	0.00209593	3.51047e-16	31	68				
TEK	7010	broad.mit.edu	37	9	27218815	27218815	+	Splice_Site	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103G>T	c.(3103-3105)Gga>Tga	p.G1035*	TEK_ENST00000406359.4_Splice_Site_p.G992*|TEK_ENST00000519097.1_Splice_Site_p.G887*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGTTAGCTTAGGTGAGTATCT	0.463																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.e20+1		TEK tyrosine kinase, endothelial							269.0	216.0	234.0					9																	27218815		2203	4300	6503	SO:0001630	splice_region_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27218815G>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3103+1G>T	9.37:g.27218815G>T						TEK_ENST00000406359.4_Splice_Site_p.G992_splice|TEK_ENST00000519097.1_Splice_Site_p.G887_splice	p.G1035_splice	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	20	3545	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1035			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Splice_Site	SNP	ENST00000380036.4	37	c.3103_splice	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	g	42	9.606793	0.99217	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	.	.	.	4.76	4.76	0.60689	.	0.000000	0.46442	U	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.148	0.89663	0.0:0.0:1.0:0.0	.	.	.	.	X	887;1035;992	.	ENSP00000369375:G1035X	G	+	1	0	TEK	27208815	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.997000	0.93544	2.366000	0.80165	0.424000	0.28305	GGA		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		Nonsense_Mutation	13	32	1	0	6.72482e-11	0.000308642	2.75746e-10	13	32				
GABRA6	2559	broad.mit.edu	37	5	161128536	161128536	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:161128536G>A	ENST00000274545.5	+	9	1552	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	GABRA6_ENST00000523217.1_Silent_p.R363R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGAAAAGGATCACTTCTC	0.398										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1087-1089)agG>agA		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						107.0	112.0	110.0					5																	161128536		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128536G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1119G>A	5.37:g.161128536G>A		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.R373R	p.R363R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1331	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	373					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1089G>A	CCDS4356.1																																																																																				0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			22	62	0	0	0	0.00047179	0	22	62				
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region (GO:0005576)		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507																																						ENST00000382114.4																			1	Substitution - Missense(1)	p.R267W(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(799-801)Cgg>Tgg		leucine-rich repeat LGI family, member 2							164.0	135.0	145.0					4																	25013978		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25013978G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.799C>T	4.37:g.25013978G>A	ENSP00000371548:p.Arg267Trp						p.R267W	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			7	984	-		Breast(46;0.173)	267					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.799C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146207	0.77888	.	.	ENSG00000153012	ENST00000382114	D	0.82167	-1.58	4.81	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88822	0.3299	10	0.87932	D	0	-15.222	10.3291	0.43812	0.0:0.0:0.5597:0.4403	.	267	Q8N0V4	LGI2_HUMAN	W	267	ENSP00000371548:R267W	ENSP00000371548:R267W	R	-	1	2	LGI2	24623076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.516000	0.60496	2.373000	0.80994	0.555000	0.69702	CGG		0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	103	0	0	0	0.000274275	0	7	103				
TMEM132B	114795	broad.mit.edu	37	12	126138424	126138424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:126138424A>G	ENST00000299308.3	+	9	2413	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCAATGATATTGAGGGC	0.478																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2404-2406)gAt>gGt		transmembrane protein 132B							80.0	80.0	80.0					12																	126138424		2067	4209	6276	SO:0001583	missense	114795					integral to membrane		g.chr12:126138424A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2405A>G	12.37:g.126138424A>G	ENSP00000299308:p.Asp802Gly					TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	p.D802G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		802					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2405A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938773	0.34189	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.18502	2.21;2.21	5.54	5.54	0.83059	.	2.820060	0.00980	N	0.003370	T	0.33059	0.0850	N	0.20483	0.58	0.54753	D	0.999988	D	0.76494	0.999	D	0.65443	0.935	T	0.02020	-1.1228	10	0.34782	T	0.22	.	15.6907	0.77450	1.0:0.0:0.0:0.0	.	802	Q14DG7	T132B_HUMAN	G	802;314	ENSP00000299308:D802G;ENSP00000440436:D314G	ENSP00000299308:D802G	D	+	2	0	TMEM132B	124704377	1.000000	0.71417	0.118000	0.21660	0.083000	0.17756	6.815000	0.75242	2.103000	0.63969	0.533000	0.62120	GAT		0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		6	58	0	0	0	0.00116845	0	6	58				
EIF3M	10480	broad.mit.edu	37	11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(598-600)Gct>Tct		eukaryotic translation initiation factor 3, subunit M							123.0	109.0	114.0					11																	32615476		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615476G>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.598G>T	11.37:g.32615476G>T	ENSP00000436049:p.Ala200Ser					EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	p.A200S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			6	661	+	Breast(20;0.109)		200						Missense_Mutation	SNP	ENST00000531120.1	37	c.598G>T	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778763	0.90195	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T	0.55052	1.07;0.54;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.73598	2.24	0.80722	D	1	P;P	0.51449	0.945;0.734	P;B	0.51101	0.659;0.196	T	0.64605	-0.6368	10	0.41790	T	0.15	-24.1495	20.6439	0.99570	0.0:0.0:1.0:0.0	.	68;200	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	S	200;68;137;41	ENSP00000436049:A200S;ENSP00000436787:A68S;ENSP00000432139:A41S	ENSP00000319910:A137S	A	+	1	0	EIF3M	32572052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GCT		0.393	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		13	25	1	0	0.000219431	0.00244969	0.000814556	13	25				
CADM1	23705	broad.mit.edu	37	11	115102137	115102137	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:115102137G>A	ENST00000452722.3	-	4	518	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000542447.2_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(496-498)tgC>tgT		cell adhesion molecule 1							271.0	224.0	240.0					11																	115102137		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102137G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.498C>T	11.37:g.115102137G>A						CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000452722.2_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C	p.C166C	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	626	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	166			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.498C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.513715|1.513715	0.27123|0.27123	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000545380	.|.	.|.	.|.	6.17|6.17	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	T|T	0.63873|0.63873	0.2548|0.2548	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62765|0.62765	-0.6785|-0.6785	4|4	.|.	.|.	.|.	.|.	11.9982|11.9982	0.53216|0.53216	0.1336:0.0:0.8664:0.0|0.1336:0.0:0.8664:0.0	.|.	.|.	.|.	.|.	V|Y	150|165	.|.	.|.	A|H	-|-	2|1	0|0	CADM1|CADM1	114607347|114607347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.621000|4.621000	0.61233|0.61233	1.596000|1.596000	0.50062|0.50062	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.458	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		29	56	0	0	0	0.001512	0	29	56				
CES2	8824	broad.mit.edu	37	16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	AGTTTCTTTGGGGGCAACTAC	0.527																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1600-1602)gGg>gAg		carboxylesterase 2							97.0	95.0	96.0					16																	66976677		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976677G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1601G>A	16.37:g.66976677G>A	ENSP00000317842:p.Gly534Glu					RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	p.G534E	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	10	2585	+		Ovarian(137;0.0563)	470					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1601G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055085	0.19907	.	.	ENSG00000172831	ENST00000317091	T	0.58506	0.33	4.7	0.211	0.15236	Carboxylesterase, type B (1);	1.472120	0.04642	N	0.405577	T	0.41994	0.1183	N	0.16098	0.37	0.09310	N	1	B	0.16603	0.018	B	0.32022	0.139	T	0.41698	-0.9494	10	0.59425	D	0.04	.	2.6229	0.04921	0.1431:0.1424:0.5456:0.1689	.	470	O00748	EST2_HUMAN	E	534	ENSP00000317842:G534E	ENSP00000317842:G534E	G	+	2	0	CES2	65534178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.401000	0.20948	-0.010000	0.14271	0.650000	0.86243	GGG		0.527	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		8	47	0	0	0	0.000274275	0	8	47				
SLC8A3	6547	broad.mit.edu	37	14	70633784	70633784	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1354-1356)acG>acT		solute carrier family 8 (sodium/calcium exchanger), member 3							159.0	153.0	155.0					14																	70633784		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633784C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1356G>T	14.37:g.70633784C>A						SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T	p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2109	-			452			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1356G>T	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			45	106	1	0	1.7489e-18	0.00285205	7.68577e-18	45	106				
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			1	Substitution - Missense(1)	p.D161N(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(481-483)Gat>Tat		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							67.0	64.0	65.0					6																	96651512		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651512G>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.481G>T	6.37:g.96651512G>T	ENSP00000302599:p.Asp161Tyr						p.D161Y	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	807	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	161					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.481G>T	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298455	0.60195	.	.	ENSG00000172461	ENST00000302103	T	0.36520	1.25	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.82222	-0.0564	10	0.87932	D	0	-18.3626	18.3049	0.90177	0.0:0.0:1.0:0.0	.	161	Q9Y231	FUT9_HUMAN	Y	161	ENSP00000302599:D161Y	ENSP00000302599:D161Y	D	+	1	0	FUT9	96758233	1.000000	0.71417	0.965000	0.40720	0.772000	0.43724	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	GAT		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		19	35	1	0	1.1804e-14	0.000586117	5.05148e-14	19	35				
ZNF608	57507	broad.mit.edu	37	5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3034-3036)gGg>gTg		zinc finger protein 608							169.0	166.0	167.0					5																	123983042		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983042C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3035G>T	5.37:g.123983042C>A	ENSP00000307746:p.Gly1012Val					ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	p.G1012V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3470	-		all_cancers(142;0.186)|Prostate(80;0.081)	1012					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3035G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.626015	0.28889	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.51325	0.72;0.71	6.05	5.17	0.71159	.	0.163089	0.56097	D	0.000036	T	0.50990	0.1648	L	0.54323	1.7	0.80722	D	1	P	0.45827	0.867	P	0.44897	0.463	T	0.54702	-0.8254	10	0.54805	T	0.06	-10.4899	17.2948	0.87168	0.0:0.8746:0.1254:0.0	.	1012	Q9ULD9	ZN608_HUMAN	V	585;1012	ENSP00000427657:G585V;ENSP00000307746:G1012V	ENSP00000307746:G1012V	G	-	2	0	ZNF608	124010941	0.984000	0.35163	0.106000	0.21319	0.036000	0.12997	2.499000	0.45372	1.529000	0.49120	0.643000	0.83706	GGG		0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		46	94	1	0	8.20599e-20	0.00285205	3.65539e-19	46	94				
CASK	8573	broad.mit.edu	37	X	41390289	41390289	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:41390289G>A	ENST00000378163.1	-	25	2965	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L	CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000421587.2_Silent_p.L802L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000318588.9_Silent_p.L826L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000378166.4_Silent_p.L826L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2476-2478)Ctg>Ttg		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							200.0	130.0	153.0					X																	41390289		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41390289G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2491C>T	X.37:g.41390289G>A						CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000378163.1_Silent_p.L831L|CASK_ENST00000421587.2_Silent_p.L802L	p.L826L			O14936	CSKP_HUMAN			25	2521	-			831			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.2476C>T																																																																																					0.512	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		28	12	0	0	0	0.000878237	0	28	12				
FAR2	55711	broad.mit.edu	37	12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:29469874G>A	ENST00000536681.3	+	9	1302	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*|FAR2_ENST00000182377.4_Nonsense_Mutation_p.W352*	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1054-1056)tgG>tgA		fatty acyl CoA reductase 2							142.0	148.0	146.0					12																	29469874		2203	4300	6503	SO:0001587	stop_gained	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469874G>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1056G>A	12.37:g.29469874G>A	ENSP00000443291:p.Trp352*					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Nonsense_Mutation_p.W352*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*	p.W352*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			9	1324	+			352					F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	ENST00000536681.3	37	c.1056G>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694838	0.98438	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.44	4.44	0.53790	.	0.072254	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-20.8712	14.6326	0.68666	0.0:0.0:1.0:0.0	.	.	.	.	X	352;352;255	.	ENSP00000182377:W352X	W	+	3	0	FAR2	29361141	1.000000	0.71417	0.981000	0.43875	0.833000	0.47200	7.141000	0.77330	2.301000	0.77427	0.467000	0.42956	TGG		0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		17	215	0	0	0	0.00121646	0	17	215				
LYST	1130	broad.mit.edu	37	1	235904812	235904812	+	Silent	SNP	G	G	A	rs141534829		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.0					ENST00000389794.3																			1	Substitution - coding silent(1)	p.H2756H(1)	kidney(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(8266-8268)caC>caT		lysosomal trafficking regulator		G		6,4400	11.4+/-27.6	0,6,2197	176.0	154.0	162.0		8268	3.8	1.0	1	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538		2756/3802	235904812	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235904812G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8268C>T	1.37:g.235904812G>A						LYST_ENST00000389793.2_Silent_p.H2756H	p.H2756H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		31	8442	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2756					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.8268C>T	CCDS31062.1																																																																																				0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	94	0	0	0	0.00116845	0	6	94				
MLLT10	8028	broad.mit.edu	37	10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T	rs368104484		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:22021981C>T	ENST00000307729.7	+	18	2550	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377072.3_Missense_Mutation_p.P807L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	791					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Substitution - Missense(1)	p.P807L(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2419-2421)cCg>cTg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	103.0	98.0	100.0		2372,2420	6.0	1.0	10		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLLT10	NM_001195626.1,NM_004641.3	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	791/1069,807/1028	22021981	1,13005	2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021981C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2372C>T	10.37:g.22021981C>T	ENSP00000307411:p.Pro791Leu					MLLT10_ENST00000307729.7_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L	p.P807L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			19	2768	+			807					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2420C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341277	0.81911	0.0	1.16E-4	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15372	2.44;2.45;2.43;2.45	6.01	6.01	0.97437	.	0.422646	0.28940	N	0.013659	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.76494	0.999;0.998;0.897;0.998	P;P;B;P	0.62560	0.904;0.608;0.148;0.608	T	0.00726	-1.1592	10	0.62326	D	0.03	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	486;791;791;807	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	807;791;791;626;791	ENSP00000366272:P807L;ENSP00000401406:P791L;ENSP00000307411:P791L;ENSP00000366258:P791L	ENSP00000307411:P791L	P	+	2	0	MLLT10	22061987	0.781000	0.28676	0.953000	0.39169	0.997000	0.91878	2.107000	0.41844	2.860000	0.98153	0.655000	0.94253	CCG		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			7	67	0	0	0	0.000157383	0	7	67				
SMARCA2	6595	broad.mit.edu	37	9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1996-1998)agC>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							135.0	137.0	137.0					9																	2076291		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2076291C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1998C>A	9.37:g.2076291C>A	ENSP00000371638:p.Ser666Arg					SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R	p.S666R			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	13	2207	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	666					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1998C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.933688	0.52866	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.92	-3.27	0.05048	.	0.172784	0.50627	D	0.000119	T	0.81044	0.4741	L	0.43923	1.385	0.80722	D	1	B;P;B	0.36789	0.338;0.57;0.435	B;B;B	0.37943	0.075;0.261;0.174	T	0.68625	-0.5359	10	0.42905	T	0.14	-19.3867	14.4807	0.67579	0.0:0.4044:0.0:0.5956	.	267;666;666	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	R	666	ENSP00000265773:S666R;ENSP00000349788:S666R;ENSP00000371638:S666R;ENSP00000371629:S666R	ENSP00000265773:S666R	S	+	3	2	SMARCA2	2066291	0.510000	0.26171	0.719000	0.30619	0.637000	0.38172	-0.435000	0.06931	-1.839000	0.01186	-2.755000	0.00123	AGC		0.388	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		27	51	1	0	1.88708e-17	0.001512	8.14688e-17	27	51				
KIAA1244	57221	broad.mit.edu	37	6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T	rs557172571	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		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)		GCTGCAAGCCGCCATAAAGTA	0.453																																						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.(658-660)Gcc>Tcc		KIAA1244							127.0	102.0	110.0					6																	138566721		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138566721G>T	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.658G>T	6.37:g.138566721G>T	ENSP00000251691:p.Ala220Ser						p.A220S	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	8	824	+	Breast(32;0.135)		220						Missense_Mutation	SNP	ENST00000251691.4	37	c.658G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	5.45	1.31	0.21738	.	1.029290	0.07692	N	0.938911	T	0.03739	0.0106	L	0.29908	0.895	0.26978	N	0.965421	B	0.02656	0.0	B	0.04013	0.001	T	0.46638	-0.9177	10	0.20046	T	0.44	-18.4502	8.948	0.35771	0.0718:0.0:0.4451:0.4831	.	220	Q5TH69	BIG3_HUMAN	S	220	ENSP00000251691:A220S	ENSP00000251691:A220S	A	+	1	0	KIAA1244	138608414	0.987000	0.35691	0.990000	0.47175	0.980000	0.70556	1.723000	0.38053	-0.065000	0.13021	0.655000	0.94253	GCC		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	14	1	0	1.23904e-05	0.000602214	4.7618e-05	5	14				
ING2	3622	broad.mit.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		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)		AGGGGAAATGGTATTGCCCAA	0.388																																						ENST00000302327.3																			1	Substitution - Missense(1)	p.W253C(1)	ovary(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(757-759)tgG>tgC		inhibitor of growth family, member 2							82.0	79.0	80.0					4																	184432021		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184432021G>C	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.759G>C	4.37:g.184432021G>C	ENSP00000307183:p.Trp253Cys					ING2_ENST00000434682.2_Missense_Mutation_p.W213C	p.W253C	NM_001564.2	NP_001555.1	Q9H160	ING2_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)	2	961	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	253					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.759G>C	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162239	0.57368	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.92348	-3.02;-3.02	5.45	5.45	0.79879	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.160978	0.64402	D	0.000020	D	0.98333	0.9447	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99285	1.0897	10	0.87932	D	0	-15.2284	19.4782	0.94998	0.0:0.0:1.0:0.0	.	213;253	B6ZDS1;Q9H160	.;ING2_HUMAN	C	253;213	ENSP00000307183:W253C;ENSP00000412586:W213C	ENSP00000307183:W253C	W	+	3	0	ING2	184669015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.838000	0.97847	0.655000	0.94253	TGG		0.388	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		4	30	0	0	0	0.00024832	0	4	30				
SNAPC2	6618	broad.mit.edu	37	19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR|CTD-3193O13.1_ENST00000564226.1_RNA	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					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						TGGCCTTCAGGGACCAAGGCG	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(262-264)Gga>Aga		small nuclear RNA activating complex, polypeptide 2, 45kDa							38.0	45.0	42.0					19																	7986386		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986386G>A	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.262G>A	19.37:g.7986386G>A	ENSP00000221573:p.Gly88Arg					SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	p.G88R	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			2	313	+			88					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.262G>A	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905032	0.33628	.	.	ENSG00000104976	ENST00000221573	T	0.62498	0.02	4.13	3.09	0.35607	.	0.419319	0.17830	N	0.160567	T	0.73001	0.3531	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60546	-0.7242	10	0.54805	T	0.06	-7.7335	7.6858	0.28540	0.1173:0.0:0.8827:0.0	.	88	Q13487	SNPC2_HUMAN	R	88	ENSP00000221573:G88R	ENSP00000221573:G88R	G	+	1	0	SNAPC2	7892386	0.078000	0.21339	0.017000	0.16124	0.020000	0.10135	2.014000	0.40951	0.943000	0.37553	-0.265000	0.10407	GGA		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		21	36	0	0	0	0.00152264	0	21	36				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																100216544							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	25	0	0	0	0.000602214	0	4	25				
PPFIA4	8497	broad.mit.edu	37	1	203008176	203008176	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:203008176C>T	ENST00000447715.2	+	6	481	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000367240.2_Silent_p.L14L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	14					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGGGGACCGCCTGGGTCCCCC	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(40-42)Ctg>Ttg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							9.0	9.0	9.0					1																	203008176		871	1978	2849	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203008176C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.40C>T	1.37:g.203008176C>T			OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133	PPFIA4_ENST00000447715.2_Silent_p.L14L|PPFIA4_ENST00000295706.4_5'UTR	p.L14L			O75335	LIPA4_HUMAN			2	567	+			0					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.40C>T																																																																																					0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	11	0	0	0	0.00024832	0	3	11				
EPS8L2	64787	broad.mit.edu	37	11	720677	720677	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000530636.1_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.L136L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(406-408)ctG>ctA		EPS8-like 2							22.0	21.0	21.0					11																	720677		2194	4294	6488	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720677G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.408G>A	11.37:g.720677G>A						EPS8L2_ENST00000530636.1_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000318562.8_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA	p.L136L			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	783	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	136			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.408G>A	CCDS31328.1																																																																																				0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	7	0	0	0	0.00116845	0	5	7				
NECAB3	63941	broad.mit.edu	37	20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(706-708)Gac>Aac		N-terminal EF-hand calcium binding protein 3							11.0	14.0	13.0					20																	32247476		1957	4145	6102	SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247476C>T	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.706G>A	20.37:g.32247476C>T	ENSP00000246190:p.Asp236Asn					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	761	-			236					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.706G>A	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851982	0.71719	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.34072	1.86;1.82;1.38	5.1	4.15	0.48705	.	0.119112	0.56097	N	0.000036	T	0.58750	0.2144	M	0.78456	2.415	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.61734	-0.7002	10	0.59425	D	0.04	-9.7304	11.28	0.49188	0.0:0.91:0.0:0.09	.	113;236;236	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	N	236	ENSP00000364386:D236N;ENSP00000246190:D236N;ENSP00000392064:D236N	ENSP00000246190:D236N	D	-	1	0	NECAB3	31711137	0.992000	0.36948	0.938000	0.37757	0.680000	0.39746	3.106000	0.50322	1.138000	0.42230	0.462000	0.41574	GAC		0.706	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			4	9	0	0	0	0.00024832	0	4	9				
CCER1	196477	broad.mit.edu	37	12	91348312	91348312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:91348312G>T	ENST00000358859.2	-	1	641	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	70																	GGGCCGTGCTGTTGCTTCGGC	0.642																																						ENST00000358859.2																			0											c.(208-210)Cag>Aag		coiled-coil glutamate-rich protein 1							39.0	42.0	41.0					12																	91348312		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348312G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.208C>A	12.37:g.91348312G>T	ENSP00000351727:p.Gln70Lys					CCER1_ENST00000548187.1_Intron	p.Q70K	NM_152638.2	NP_689851.1					1	641	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.208C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116720	0.20795	.	.	ENSG00000197651	ENST00000358859	T	0.39056	1.1	4.87	3.99	0.46301	.	0.518959	0.14548	N	0.312849	T	0.39545	0.1082	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	P	0.50970	0.655	T	0.12889	-1.0530	10	0.40728	T	0.16	-11.9055	10.5873	0.45290	0.0:0.0:0.8079:0.1921	.	70	Q8TC90	CL012_HUMAN	K	70	ENSP00000351727:Q70K	ENSP00000351727:Q70K	Q	-	1	0	C12orf12	89872443	0.002000	0.14202	0.005000	0.12908	0.023000	0.10783	0.807000	0.27140	1.295000	0.44724	-0.372000	0.07161	CAG		0.642	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	16	1	0	1.08611e-07	0.000978159	4.29188e-07	12	16				
SDK1	221935	broad.mit.edu	37	7	4185403	4185403	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8. {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)		ACACCTTCACCACCGTGGAGG	0.657																																						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.(4276-4278)acC>acA		sidekick cell adhesion molecule 1							59.0	55.0	56.0					7																	4185403		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4185403C>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.4278C>A	7.37:g.4185403C>A						SDK1_ENST00000389531.3_Silent_p.T1426T	p.T1426T	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)	29	4417	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1426			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4278C>A	CCDS34590.1																																																																																				0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	60	1	0	1.76689e-08	0.000442599	7.09654e-08	9	60				
SOX5	6660	broad.mit.edu	37	12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:23999030G>A	ENST00000451604.2	-	3	469	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SOX5_ENST00000546136.1_Missense_Mutation_p.S110F|SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(328-330)tCc>tTc		SRY (sex determining region Y)-box 5							135.0	121.0	126.0					12																	23999030		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999030G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.368C>T	12.37:g.23999030G>A	ENSP00000398273:p.Ser123Phe					SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000451604.2_Missense_Mutation_p.S123F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F	p.S110F			P35711	SOX5_HUMAN			2	331	-			123					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.329C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173133	0.57584	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97161	-4.16;-4.16;-4.16;-4.16;-4.27;-4.16;-4.16	5.79	4.85	0.62838	.	0.466547	0.24935	N	0.034440	D	0.95169	0.8434	L	0.34521	1.04	0.41146	D	0.98599	D;P;B;B	0.54207	0.965;0.573;0.078;0.437	P;B;B;B	0.51135	0.66;0.257;0.031;0.174	D	0.92918	0.6353	10	0.10111	T	0.7	.	15.6637	0.77209	0.0:0.0:0.8623:0.1377	.	88;88;110;123	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	F	110;110;110;123;75;88;110;113;113;88;110	ENSP00000437487:S110F;ENSP00000308927:S110F;ENSP00000370788:S110F;ENSP00000398273:S123F;ENSP00000439832:S88F;ENSP00000441973:S110F;ENSP00000443520:S113F	ENSP00000308927:S110F	S	-	2	0	SOX5	23890297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.842000	0.69417	2.744000	0.94065	0.650000	0.86243	TCC		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	53	0	0	0	0.0024448	0	33	53				
GLIPR1	11010	broad.mit.edu	37	12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(565-567)Gga>Aga		GLI pathogenesis-related 1							60.0	59.0	59.0					12																	75889388		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75889388G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.565G>A	12.37:g.75889388G>A	ENSP00000266659:p.Gly189Arg						p.G189R	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			4	766	+			189					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.565G>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093972	0.76870	.	.	ENSG00000139278	ENST00000266659	T	0.20332	2.08	5.01	5.01	0.66863	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.89163	3.01	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.63690	-0.6580	10	0.87932	D	0	.	16.8607	0.86017	0.0:0.0:1.0:0.0	.	189	P48060	GLIP1_HUMAN	R	189	ENSP00000266659:G189R	ENSP00000266659:G189R	G	+	1	0	GLIPR1	74175655	1.000000	0.71417	0.350000	0.25708	0.585000	0.36419	6.533000	0.73829	2.494000	0.84150	0.655000	0.94253	GGA		0.378	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		3	24	0	0	0	6.4e-05	0	3	24				
TRBV5-4	28611	broad.mit.edu	37	7	142168472	142168472	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:142168472G>A	ENST00000454561.2	-	0	451									T cell receptor beta variable 5-4																		CTGGAGACCTGAGAATCTAGG	0.537																																						ENST00000454561.2																			0																				85.0	85.0	85.0					7																	142168472		1886	4109	5995			28611							g.chr7:142168472G>A	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168472G>A														0	451	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.537	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		54	70	0	0	0	0.000781405	0	54	70				
SMARCA4	6597	broad.mit.edu	37	19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:11105592C>A	ENST00000429416.3	+	10	1789	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1507-1509)gCa>gAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							127.0	103.0	111.0					19																	11105592		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11105592C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1508C>A	19.37:g.11105592C>A	ENSP00000395654:p.Ala503Glu					SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E	p.A503E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			9	1792	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	503			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1508C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005638	0.93287	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.46	4.46	0.54185	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.985;0.975;0.999;0.999	D;D;D;D;P;D;D	0.76071	0.974;0.974;0.974;0.94;0.883;0.987;0.987	T	0.77172	-0.2685	10	0.87932	D	0	-26.3724	16.3965	0.83607	0.0:1.0:0.0:0.0	.	503;503;503;503;503;503;503	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	E	503	ENSP00000395654:A503E;ENSP00000350720:A503E;ENSP00000343896:A503E;ENSP00000445036:A503E;ENSP00000392837:A503E;ENSP00000397783:A503E;ENSP00000414727:A503E	ENSP00000343896:A503E	A	+	2	0	SMARCA4	10966592	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.581000	0.82535	2.487000	0.83934	0.563000	0.77884	GCA		0.532	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	21	1	0	3.86212e-05	0.000673444	0.000144461	4	21				
CFAP70	118491	broad.mit.edu	37	10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:75059376C>T	ENST00000310715.3	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000493787.1_5'UTR|snoU13_ENST00000459292.1_RNA|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000401621.2_Missense_Mutation_p.G505E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		505						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1513-1515)gGa>gAa		tetratricopeptide repeat domain 18							74.0	69.0	71.0					10																	75059376		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75059376C>T																												ENST00000310715.3:c.1514G>A	10.37:g.75059376C>T	ENSP00000310829:p.Gly505Glu					TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.G505E|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000493787.1_5'UTR	p.G505E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			14	1634	-	Prostate(51;0.0119)		505					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1514G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922932	0.73213	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	D;D;D	0.92965	-3.14;-3.14;-3.14	5.81	5.81	0.92471	.	0.127020	0.53938	D	0.000041	D	0.93067	0.7793	L	0.60455	1.87	0.44359	D	0.997254	D;D	0.59357	0.957;0.985	P;P	0.53518	0.728;0.614	D	0.91700	0.5373	10	0.34782	T	0.22	-5.5272	15.5759	0.76387	0.0:1.0:0.0:0.0	.	505;505	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	E	505	ENSP00000310829:G505E;ENSP00000384479:G505E;ENSP00000378334:G505E	ENSP00000310829:G505E	G	-	2	0	TTC18	74729382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.624000	0.24462	2.763000	0.94921	0.650000	0.86243	GGA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	27	0	0	0	0.00074312	0	14	27				
EN1	2019	broad.mit.edu	37	2	119603946	119603946	+	Silent	SNP	C	C	T	rs368737948		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(796-798)tcG>tcA		engrailed homeobox 1							23.0	28.0	26.0					2																	119603946		2202	4299	6501	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119603946C>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.798G>A	2.37:g.119603946C>T							p.S266S	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	1308	-			266					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.798G>A	CCDS2123.1																																																																																				0.637	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			5	14	0	0	0	0.000602214	0	5	14				
CA10	56934	broad.mit.edu	37	17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:49726560G>C	ENST00000285273.4	-	7	1728	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000451037.2_Missense_Mutation_p.T206R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000571918.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGTTATTCTTGTGATAGTATC	0.383																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(616-618)aCa>aGa		carbonic anhydrase X							129.0	134.0	133.0					17																	49726560		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49726560G>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.617C>G	17.37:g.49726560G>C	ENSP00000285273:p.Thr206Arg					CA10_ENST00000571918.1_5'UTR|CA10_ENST00000285273.4_Missense_Mutation_p.T206R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R	p.T206R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		6	1557	-			206					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.617C>G	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170995	0.78452	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.37	5.37	0.77165	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	L	0.52905	1.665	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.91	D;D;P	0.81914	0.991;0.995;0.752	T	0.78510	-0.2176	10	0.33141	T	0.24	.	18.0905	0.89474	0.0:0.0:1.0:0.0	.	206;212;131	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	R	206;206;206;212	ENSP00000390666:T206R;ENSP00000285273:T206R;ENSP00000405388:T206R;ENSP00000340363:T212R	ENSP00000285273:T206R	T	-	2	0	CA10	47081559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.035000	0.93752	2.494000	0.84150	0.591000	0.81541	ACA		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		5	62	0	0	0	0.000602214	0	5	62				
IL36A	27179	broad.mit.edu	37	2	113764229	113764229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:113764229G>C	ENST00000259211.6	+	3	590	c.179G>C	c.(178-180)gGg>gCg	p.G60A		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAAGACAGAGGGAACCCCATC	0.527																																						ENST00000259211.6																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(178-180)gGg>gCg		interleukin 36, alpha							251.0	254.0	253.0					2																	113764229		1992	4160	6152	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113764229G>C	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.179G>C	2.37:g.113764229G>C	ENSP00000259211:p.Gly60Ala						p.G60A	NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN			3	590	+			60					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.179G>C	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889222	0.52014	.	.	ENSG00000136694	ENST00000259211	T	0.18810	2.19	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000020	T	0.40619	0.1124	M	0.76170	2.325	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.23404	-1.0189	10	0.21014	T	0.42	-12.4534	9.4903	0.38955	0.0959:0.0:0.9041:0.0	.	60	Q9UHA7	IL36A_HUMAN	A	60	ENSP00000259211:G60A	ENSP00000259211:G60A	G	+	2	0	IL36A	113480700	0.957000	0.32711	0.119000	0.21687	0.824000	0.46624	3.958000	0.56737	1.359000	0.45940	0.591000	0.81541	GGG		0.527	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		61	221	0	0	0	0.000781405	0	61	221				
ZNF808	388558	broad.mit.edu	37	19	53058290	53058290	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2119-2121)taC>taT		zinc finger protein 808							228.0	225.0	226.0					19																	53058290		2203	4300	6503	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058290C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2121C>T	19.37:g.53058290C>T							p.Y707Y	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2301	+			707					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.2121C>T	CCDS46167.1																																																																																				0.413	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		19	250	0	0	0	0.00121646	0	19	250				
SLC20A1	6574	broad.mit.edu	37	2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1531-1533)Gtc>Atc		solute carrier family 20 (phosphate transporter), member 1							163.0	160.0	161.0					2																	113417263		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417263G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1531G>A	2.37:g.113417263G>A	ENSP00000272542:p.Val511Ile						p.V511I	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	2070	+			511					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1531G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040566	0.55003	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90563	-2.69	5.26	3.08	0.35506	.	0.117180	0.56097	N	0.000024	D	0.86781	0.6015	L	0.41356	1.27	0.45899	D	0.998749	B;B	0.28820	0.224;0.224	B;B	0.36186	0.219;0.219	D	0.84025	0.0356	10	0.45353	T	0.12	-28.222	10.6519	0.45653	0.1904:0.0:0.8096:0.0	.	511;511	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	I	511;323	ENSP00000272542:V511I	ENSP00000272542:V511I	V	+	1	0	SLC20A1	113133734	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.698000	0.74608	1.199000	0.43173	0.655000	0.94253	GTC		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	163	0	0	0	0.00185496	0	11	163				
SCIN	85477	broad.mit.edu	37	7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000445618.2_Missense_Mutation_p.V222A|SCIN_ENST00000519209.1_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	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)		GGACAGGCTGTGCAGGTTGGG	0.468																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1405-1407)gTg>gCg		scinderin							75.0	74.0	75.0					7																	12675756		1972	4166	6138	SO:0001583	missense	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.chr7:12675756T>C	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.1406T>C	7.37:g.12675756T>C	ENSP00000297029:p.Val469Ala					SCIN_ENST00000445618.2_Missense_Mutation_p.V222A|SCIN_ENST00000519209.1_Missense_Mutation_p.V222A	p.V469A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1507	+			469			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1406T>C	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803611	0.90623	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.56776	0.44;0.44;0.44	5.44	5.44	0.79542	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.86343	2.81	0.80722	D	1	P	0.47191	0.891	P	0.61658	0.892	T	0.79799	-0.1651	10	0.87932	D	0	-17.3925	15.4938	0.75632	0.0:0.0:0.0:1.0	.	469	Q9Y6U3	ADSV_HUMAN	A	469;222;222	ENSP00000297029:V469A;ENSP00000430997:V222A;ENSP00000390189:V222A	ENSP00000297029:V469A	V	+	2	0	SCIN	12642281	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.981000	0.70524	2.054000	0.61138	0.533000	0.62120	GTG		0.468	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		4	8	0	0	0	0.000602214	0	4	8				
LGR6	59352	broad.mit.edu	37	1	202287594	202287594	+	Silent	SNP	G	G	A	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000255432.7_Silent_p.A669A|LGR6_ENST00000439764.2_Silent_p.A582A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2161-2163)gcG>gcA		leucine-rich repeat containing G protein-coupled receptor 6		G	,,	1,4405	2.1+/-5.4	0,1,2202	45.0	41.0	42.0		2163,1746,2007	-3.3	0.7	1	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	721/968,582/829,669/916	202287594	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287594G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2163G>A	1.37:g.202287594G>A						LGR6_ENST00000439764.2_Silent_p.A582A|LGR6_ENST00000255432.7_Silent_p.A669A	p.A721A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2252	+			721					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2163G>A	CCDS30971.1																																																																																				0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	33	0	0	0	0.000442599	0	10	33				
NAA15	80155	broad.mit.edu	37	4	140309172	140309172	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2533-2535)gaG>gaA		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							98.0	88.0	91.0					4																	140309172		1854	4100	5954	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140309172G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2535G>A	4.37:g.140309172G>A						NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	p.E845E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			20	2858	+			845					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2535G>A	CCDS43270.1																																																																																				0.388	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		13	25	0	0	0	0.00136819	0	13	25				
FAM71B	153745	broad.mit.edu	37	5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1186-1188)Gga>Cga		family with sequence similarity 71, member B							64.0	67.0	66.0					5																	156590090		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590090C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1186G>C	5.37:g.156590090C>G	ENSP00000305596:p.Gly396Arg						p.G396R	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1281	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	396					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1186G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229481	0.22542	.	.	ENSG00000170613	ENST00000302938	T	0.18174	2.23	4.26	-1.42	0.08913	.	1.537060	0.04411	N	0.366059	T	0.23330	0.0564	M	0.61703	1.905	0.09310	N	1	P	0.51933	0.949	P	0.48030	0.564	T	0.31724	-0.9933	10	0.42905	T	0.14	1.0691	6.04	0.19728	0.0:0.2601:0.5213:0.2186	.	396	Q8TC56	FA71B_HUMAN	R	396	ENSP00000305596:G396R	ENSP00000305596:G396R	G	-	1	0	FAM71B	156522668	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.120000	0.10660	-0.181000	0.10619	0.561000	0.74099	GGA		0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		25	34	0	0	0	0.00278032	0	25	34				
EPB41L3	23136	broad.mit.edu	37	18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A	rs548784436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21864	0.0		0.0	False		,,,				2504	0.0					ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1888-1890)cCg>cTg		erythrocyte membrane protein band 4.1-like 3							217.0	149.0	172.0					18																	5415995		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415995G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1889C>T	18.37:g.5415995G>A	ENSP00000343158:p.Pro630Leu					EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000540638.2_Intron	p.P630L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2229	-			630			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1889C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869936	0.91587	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82344	-1.6;-1.6	5.37	5.37	0.77165	.	0.319537	0.29692	N	0.011455	D	0.90601	0.7053	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.91400	0.5142	10	0.87932	D	0	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	630	Q9Y2J2	E41L3_HUMAN	L	630	ENSP00000343158:P630L;ENSP00000341138:P630L	ENSP00000343158:P630L	P	-	2	0	EPB41L3	5405995	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	9.687000	0.98667	2.509000	0.84616	0.563000	0.77884	CCG		0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		18	59	0	0	0	0.00074312	0	18	59				
SLITRK6	84189	broad.mit.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1657-1659)Gac>Aac		SLIT and NTRK-like family, member 6							99.0	99.0	99.0					13																	86368987		1933	4130	6063	SO:0001583	missense	84189					integral to membrane		g.chr13:86368987C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1657G>A	13.37:g.86368987C>T	ENSP00000383143:p.Asp553Asn						p.D553N	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2255	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		553			LRRCT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1657G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723689	0.03158	.	.	ENSG00000184564	ENST00000400286	T	0.02369	4.32	5.93	-1.22	0.09494	Cysteine-rich flanking region, C-terminal (1);	0.678779	0.13916	U	0.353868	T	0.01765	0.0056	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.32370	T	0.25	-0.3269	6.7726	0.23602	0.0:0.2843:0.2233:0.4924	.	553	Q9H5Y7	SLIK6_HUMAN	N	553	ENSP00000383143:D553N	ENSP00000383143:D553N	D	-	1	0	SLITRK6	85266988	0.017000	0.18338	0.000000	0.03702	0.174000	0.22865	1.266000	0.33039	-0.661000	0.05345	-0.794000	0.03295	GAC		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	54	0	0	0	0.000673444	0	11	54				
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25						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)		GGAACACCAGGAACTGTATGA	0.488																																						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.(73-75)ttC>ttA		olfactory receptor, family 6, subfamily T, member 1							111.0	105.0	107.0					11																	123814471		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814471G>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.75C>A	11.37:g.123814471G>T	ENSP00000325203:p.Phe25Leu						p.F25L	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	109	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.75C>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380910	0.11466	.	.	ENSG00000181499	ENST00000321252	T	0.00402	7.56	3.74	-2.63	0.06133	.	.	.	.	.	T	0.00109	0.0003	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.41790	T	0.15	-11.9671	6.6286	0.22843	0.1797:0.411:0.4094:0.0	.	25	Q8NGN1	OR6T1_HUMAN	L	25	ENSP00000325203:F25L	ENSP00000325203:F25L	F	-	3	2	OR6T1	123319681	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-0.762000	0.04745	-0.333000	0.08476	0.655000	0.94253	TTC		0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		36	74	1	0	5.43694e-19	0.00111076	2.40009e-18	36	74				
TJP1	7082	broad.mit.edu	37	15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4288-4290)Cca>Gca		tight junction protein 1							175.0	190.0	185.0					15																	30003119		2064	4206	6270	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003119G>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4288C>G	15.37:g.30003119G>C	ENSP00000281537:p.Pro1430Ala					TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A	p.P1430A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4762	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1430			Poly-Pro.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4288C>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625791	0.46840	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.09350	2.99;3.04	5.62	4.68	0.58851	.	0.184350	0.48767	D	0.000167	T	0.28995	0.0720	L	0.60455	1.87	0.80722	D	1	B;B;B;D	0.71674	0.008;0.011;0.004;0.998	B;B;B;D	0.78314	0.005;0.009;0.004;0.991	T	0.00593	-1.1654	10	0.66056	D	0.02	.	14.9891	0.71371	0.0:0.1412:0.8588:0.0	.	1423;1350;1430;1354	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1430;1354;1430;1350;1350	ENSP00000281537:P1430A;ENSP00000382890:P1354A	ENSP00000281537:P1430A	P	-	1	0	TJP1	27790411	0.998000	0.40836	0.694000	0.30210	0.751000	0.42716	2.402000	0.44521	2.642000	0.89623	0.655000	0.94253	CCA		0.532	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		76	109	0	0	0	0.000781405	0	76	109				
CSMD3	114788	broad.mit.edu	37	8	113326782	113326782	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000343508.3_Silent_p.P2435P|CSMD3_ENST00000352409.3_Silent_p.P2405P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7423-7425)ccT>ccA		CUB and Sushi multiple domains 3							102.0	97.0	99.0					8																	113326782		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113326782A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7425T>A	8.37:g.113326782A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000352409.3_Silent_p.P2405P|CSMD3_ENST00000343508.3_Silent_p.P2435P	p.P2475P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			48	7669	-			2475			CUB 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7425T>A	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	23	0	0	0	0.000673444	0	11	23				
PRDM2	7799	broad.mit.edu	37	1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gccfs	p.A1014fs	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3040-3042)gcfs		PR domain containing 2, with ZNF domain							150.0	128.0	136.0					1																	14107331		2203	4300	6503	SO:0001589	frameshift_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107331delC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3041delC	1.37:g.14107331delC	ENSP00000235372:p.Ala1014fs					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs	p.A1014fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3897	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1014			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	c.3041delC	CCDS150.1																																																																																				0.632	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		44	74						44	74	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:36226310_36226311insT	ENST00000318121.3	-	8	1268_1269	c.1211_1212insA	c.(1210-1212)aatfs	p.N404fs	CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000251195.5_Frame_Shift_Ins_p.N404fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1210-1212)agafs		claspin																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226310_36226311insT	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1212dupA	1.37:g.36226316_36226316dupT	ENSP00000312995:p.Asn404fs					CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000318121.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.R404fs	p.R404fs			Q9HAW4	CLSPN_HUMAN			8	1307_1308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	404					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Ins	INS	ENST00000318121.3	37	c.1211_1212insA	CCDS396.1																																																																																				0.436	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		19	103						19	103	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)caafs	p.Q1417fs	THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.Q1389fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.Q1420fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1419	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4249-4251)acafs		thrombospondin, type I, domain containing 7B																																				SO:0001589	frameshift_variant	80731							g.chr2:138414509_138414510insA			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4251dupA	2.37:g.138414511_138414511dupA	ENSP00000387145:p.Gln1417fs					THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.T1389fs|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.T1420fs|THSD7B_ENST00000543459.1_Intron	p.T1417fs						BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4427_4428	+									Frame_Shift_Ins	INS	ENST00000409968.1	37	c.4249_4250insA																																																																																					0.426	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		51	206						51	206	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52778296	52778297	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52778296_52778297delCT	ENST00000233027.5	-	11	2054_2055	c.1852_1853delAG	c.(1852-1854)aggfs	p.R620fs	NEK4_ENST00000383721.4_Frame_Shift_Del_p.R574fs|NEK4_ENST00000535191.1_Frame_Shift_Del_p.R531fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TAGTCGCCTCCTCTCTCTGGCT	0.406																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1852-1854)gfs		NIMA-related kinase 4																																				SO:0001589	frameshift_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52778296_52778297delCT	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1852_1853delAG	3.37:g.52778302_52778303delCT	ENSP00000233027:p.Arg620fs					NEK4_ENST00000383721.4_Frame_Shift_Del_p.R574fs|NEK4_ENST00000535191.1_Frame_Shift_Del_p.R531fs	p.R620fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	11	2054_2055	-			620					A5YM70|B2R633|B7Z200|Q6P576	Frame_Shift_Del	DEL	ENST00000233027.5	37	c.1852_1853delAG	CCDS2863.1																																																																																				0.406	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		52	151						52	151	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)ctcfs	p.L90fs	CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTGCAGACACTCTACACATTC	0.644																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(268-270)cfs		cadherin-related family member 2																																				SO:0001589	frameshift_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:175995964_175995965delCT	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.268_269delCT	5.37:g.175995966_175995967delCT	ENSP00000424565:p.Leu90fs					CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs	p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			5	542_543	+			90			Cadherin 1.		A1L3U4|A6NC80|Q9NXP8	Frame_Shift_Del	DEL	ENST00000510636.1	37	c.268_269delCT	CCDS34297.1																																																																																				0.644	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		18	44						18	44	---	---	---	---
MGAT4B	11282	broad.mit.edu	37	5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:179228834_179228837delCTTT	ENST00000292591.7	-	2	580_583	c.230_233delAAAG	c.(229-234)gaaaggfs	p.ER77fs	MGAT4B_ENST00000337755.5_Frame_Shift_Del_p.ER92fs|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(274-279)ggfs		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B																																				SO:0001589	frameshift_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228834_179228837delCTTT	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.230_233delAAAG	5.37:g.179228834_179228837delCTTT	ENSP00000292591:p.Glu77fs		OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Frame_Shift_Del_p.ER77fs	p.ER92fs	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1161_1164	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	77					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Frame_Shift_Del	DEL	ENST00000292591.7	37	c.275_278delAAAG	CCDS4448.1																																																																																				0.667	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		7	31						7	31	---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	62693694	62693694	+	RNA	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:62693694delC	ENST00000451381.1	-	0	181																											TGGGCTGCAGCCCCCGCCCTG	0.657																																						ENST00000451381.1																			0																																																			5260							g.chr7:62693694delC																													7.37:g.62693694delC														0	181	-									RNA	DEL	ENST00000451381.1	37																																																																																						0.657	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			2	4						2	4	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:5958267delG	ENST00000362091.4	+	10	1751	c.1636delG	c.(1636-1638)gggfs	p.G546fs	FBXO18_ENST00000379999.5_Frame_Shift_Del_p.G597fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1789-1791)ggfs		F-box protein, helicase, 18							125.0	112.0	117.0					10																	5958267		2203	4300	6503	SO:0001589	frameshift_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5958267delG	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1636delG	10.37:g.5958267delG	ENSP00000355415:p.Gly546fs					FBXO18_ENST00000379994.1_Frame_Shift_Del_p.G283fs|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.G546fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	p.G597fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			11	1893	+			546					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	c.1789delG	CCDS7072.1																																																																																				0.463	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		19	71						19	71	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:24825815_24825817delAGA	ENST00000376454.3	+	17	3557_3559	c.3527_3529delAGA	c.(3526-3531)gagaag>gag	p.K1178del	KIAA1217_ENST00000376451.2_In_Frame_Del_p.K861del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.K1142del|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_In_Frame_Del_p.K1143del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.K861del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.K861del|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1178					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						CCACCCAAGGAGAAGAAGGTAAC	0.517																																						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.(2575-2580)gag>g		KIAA1217																																				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825815_24825817delAGA	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.3527_3529delAGA	10.37:g.24825818_24825820delAGA	ENSP00000365637:p.Lys1178del					KIAA1217_ENST00000307544.6_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.EK1176del|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_In_Frame_Del_p.EK859del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.EK1141del|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_In_Frame_Del_p.EK1140del	p.EK859del			Q5T5P2	SKT_HUMAN			12	2836_2838	+			1176					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2576_2578delAGA	CCDS31165.1																																																																																				0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		28	40						28	40	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gccfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1045-1047)gcfs		NLR family, pyrin domain containing 14							100.0	104.0	102.0					11																	7064303		2201	4296	6497	SO:0001589	frameshift_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064303delC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1046delC	11.37:g.7064303delC	ENSP00000299481:p.Ala349fs						p.A349fs	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1392	+			349			NACHT.		Q7RTR6	Frame_Shift_Del	DEL	ENST00000299481.4	37	c.1046delC	CCDS7776.1																																																																																				0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		30	48						30	48	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:20641147_20641148delGA	ENST00000382874.2	+	21	3479_3480	c.3289_3290delGA	c.(3289-3291)gagfs	p.E1097fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.E1097fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3289-3291)gfs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641147_20641148delGA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3289_3290delGA	13.37:g.20641147_20641148delGA	ENSP00000372327:p.Glu1097fs					ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382870.2_Frame_Shift_Del_p.E477fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.E1097fs	p.E1097fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	20	3540_3541	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1097					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	c.3289_3290delGA	CCDS45016.1																																																																																				0.302	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		11	34						11	34	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)catfs	p.H151fs	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTATTTGTATGGGCTGCCAAA	0.433																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(451-453)atfs		transient receptor potential cation channel, subfamily C, member 4							88.0	105.0	99.0					13																	38320520		2203	4300	6503	SO:0001589	frameshift_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320520delG	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.451delC	13.37:g.38320520delG	ENSP00000369027:p.His151fs					TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs	p.H151fs			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1308	-			151			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Frame_Shift_Del	DEL	ENST00000379705.3	37	c.451delC	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		49	111						49	111	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tatfs	p.Y965fs	SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.Y914fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.Y965fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.Y950fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.Y956fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.Y965fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.Y777fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.Y777fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCGTAAGTGATATAGGAAGGTG	0.48																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2893-2895)tcafs		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529660_34529661insA	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2894dupT	15.37:g.34529661_34529661dupA	ENSP00000346112:p.Tyr965fs					SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.S956fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.S914fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.S950fs	p.S965fs			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3385_3386	-		all_lung(180;2.78e-08)	965					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Frame_Shift_Ins	INS	ENST00000354181.3	37	c.2893_2894insT	CCDS58352.1																																																																																				0.480	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		19	41						19	41	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-	rs368965436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)actctcctggacfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.51																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(673-684)acfs		keratin 9																																				SO:0001589	frameshift_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39726431_39726440delGTCCAGGAGA		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.675_684delTCTCCTGGAC	17.37:g.39726431_39726440delGTCCAGGAGA	ENSP00000246662:p.Thr225fs					KRT9_ENST00000588431.1_5'UTR	p.TLLD225fs	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			2	740_749	-		Breast(137;0.000307)	225			Coil 1B.|Rod.		O00109|Q0IJ47|Q14665	Frame_Shift_Del	DEL	ENST00000246662.4	37	c.675_684delTCTCCTGGAC	CCDS32654.1																																																																																				0.510	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		10	334						10	334	---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gacfs	p.D280fs	PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|SNORA30_ENST00000363193.1_RNA|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(835-837)gcfs		phosphatidylglycerophosphate synthase 1							60.0	69.0	66.0					17																	76396892		2169	4259	6428	SO:0001589	frameshift_variant	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76396892delA		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.836delA	17.37:g.76396892delA	ENSP00000262764:p.Asp280fs					PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|PGS1_ENST00000588281.1_3'UTR	p.D280fs	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		6	862	+			280					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Frame_Shift_Del	DEL	ENST00000262764.6	37	c.836delA	CCDS42391.1																																																																																				0.637	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		15	57						15	57	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gccfs	p.A1014fs	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3040-3042)gcfs		PR domain containing 2, with ZNF domain							150.0	128.0	136.0					1																	14107331		2203	4300	6503	SO:0001589	frameshift_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107331delC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3041delC	1.37:g.14107331delC	ENSP00000235372:p.Ala1014fs					PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	p.A1014fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3897	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1014			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	c.3041delC	CCDS150.1																																																																																				0.632	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		44	74						44	74	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:36226310_36226311insT	ENST00000318121.3	-	8	1268_1269	c.1211_1212insA	c.(1210-1212)aatfs	p.N404fs	CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000251195.5_Frame_Shift_Ins_p.N404fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1210-1212)agafs		claspin																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226310_36226311insT	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1212dupA	1.37:g.36226316_36226316dupT	ENSP00000312995:p.Asn404fs					CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000318121.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.R404fs	p.R404fs			Q9HAW4	CLSPN_HUMAN			8	1307_1308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	404					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Ins	INS	ENST00000318121.3	37	c.1211_1212insA	CCDS396.1																																																																																				0.436	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		19	103						19	103	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)acafs	p.T2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.T2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.52																																						ENST00000368346.3																			1	Deletion - Frameshift(1)	p.T2895fs*44(1)	large_intestine(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8698-8700)agafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155307999_155308000insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8699dupA	1.37:g.155308008_155308008dupT	ENSP00000357330:p.Thr2900fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs	p.R2900fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		27	9337_9338	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2900					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.8698_8699insA																																																																																					0.520	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		12	171						12	171	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)caafs	p.Q1417fs	THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.Q1389fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.Q1420fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1419	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4249-4251)acafs		thrombospondin, type I, domain containing 7B																																				SO:0001589	frameshift_variant	80731							g.chr2:138414509_138414510insA			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4251dupA	2.37:g.138414511_138414511dupA	ENSP00000387145:p.Gln1417fs					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.T1389fs|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.T1420fs	p.T1417fs						BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4427_4428	+									Frame_Shift_Ins	INS	ENST00000409968.1	37	c.4249_4250insA																																																																																					0.426	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		51	206						51	206	---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72313079	72313086	+	Frame_Shift_Del	DEL	TTGAAAGT	TTGAAAGT	-	rs143520046	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:72313079_72313086delTTGAAAGT	ENST00000430046.2	+	8	856_863	c.740_747delTTGAAAGT	c.(739-747)gttgaaagtfs	p.VES247fs	FCHO2_ENST00000287761.6_Frame_Shift_Del_p.VES247fs|FCHO2_ENST00000512348.1_Frame_Shift_Del_p.VES214fs|FCHO2_ENST00000341845.6_Frame_Shift_Del_p.VES247fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	247	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AATACTACAGTTGAAAGTTTGATACAAA	0.293																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(739-747)gfs		FCH domain only 2																																				SO:0001589	frameshift_variant	115548							g.chr5:72313079_72313086delTTGAAAGT	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.740_747delTTGAAAGT	5.37:g.72313079_72313086delTTGAAAGT	ENSP00000393776:p.Val247fs					FCHO2_ENST00000512348.1_Frame_Shift_Del_p.VES214fs|FCHO2_ENST00000341845.6_Frame_Shift_Del_p.VES247fs|FCHO2_ENST00000287761.6_Frame_Shift_Del_p.VES247fs	p.VES247fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	8	856_863	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	247					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Frame_Shift_Del	DEL	ENST00000430046.2	37	c.740_747delTTGAAAGT	CCDS47230.1																																																																																				0.293	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		4	3						4	3	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)ctcfs	p.L90fs	CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTGCAGACACTCTACACATTC	0.644																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(268-270)cfs		cadherin-related family member 2																																				SO:0001589	frameshift_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:175995964_175995965delCT	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.268_269delCT	5.37:g.175995966_175995967delCT	ENSP00000424565:p.Leu90fs					CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs	p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			5	542_543	+			90			Cadherin 1.		A1L3U4|A6NC80|Q9NXP8	Frame_Shift_Del	DEL	ENST00000510636.1	37	c.268_269delCT	CCDS34297.1																																																																																				0.644	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		18	44						18	44	---	---	---	---
MGAT4B	11282	broad.mit.edu	37	5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:179228834_179228837delCTTT	ENST00000292591.7	-	2	580_583	c.230_233delAAAG	c.(229-234)gaaaggfs	p.ER77fs	MGAT4B_ENST00000337755.5_Frame_Shift_Del_p.ER92fs|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(274-279)ggfs		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B																																				SO:0001589	frameshift_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228834_179228837delCTTT	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.230_233delAAAG	5.37:g.179228834_179228837delCTTT	ENSP00000292591:p.Glu77fs		OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Frame_Shift_Del_p.ER77fs	p.ER92fs	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1161_1164	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	77					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Frame_Shift_Del	DEL	ENST00000292591.7	37	c.275_278delAAAG	CCDS4448.1																																																																																				0.667	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		7	31						7	31	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2766468	2766469	+	Frame_Shift_Ins	INS	-	-	GGGG	rs148900120		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:2766468_2766469insGGGG	ENST00000380773.4	+	1	821_822	c.612_613insGGGG	c.(613-615)gggfs	p.G205fs	WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.G205fs|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGCCAGTggcgggggccgccc	0.752																																						ENST00000380773.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(610-615)ggggggfs		Werner helicase interacting protein 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2766468_2766469insGGGG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.613_616dupGGGG	6.37:g.2766469_2766472dupGGGG	ENSP00000370150:p.Gly205fs					WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.GG204fs|WRNIP1_ENST00000380769.4_5'UTR	p.GG204fs	NM_020135.2	NP_064520.2	Q96S55	WRIP1_HUMAN			1	821_822	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	204						Frame_Shift_Ins	INS	ENST00000380773.4	37	c.612_613insGGGG	CCDS4475.1																																																																																				0.752	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		2	4						2	4	---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	62693694	62693694	+	RNA	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:62693694delC	ENST00000451381.1	-	0	181																											TGGGCTGCAGCCCCCGCCCTG	0.657																																						ENST00000451381.1																			0																																																			5260							g.chr7:62693694delC																													7.37:g.62693694delC														0	181	-									RNA	DEL	ENST00000451381.1	37																																																																																						0.657	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			2	4						2	4	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:5958267delG	ENST00000362091.4	+	10	1751	c.1636delG	c.(1636-1638)gggfs	p.G546fs	FBXO18_ENST00000379999.5_Frame_Shift_Del_p.G597fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1789-1791)ggfs		F-box protein, helicase, 18							125.0	112.0	117.0					10																	5958267		2203	4300	6503	SO:0001589	frameshift_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5958267delG	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1636delG	10.37:g.5958267delG	ENSP00000355415:p.Gly546fs					FBXO18_ENST00000379994.1_Frame_Shift_Del_p.G283fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.G546fs	p.G597fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			11	1893	+			546					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	c.1789delG	CCDS7072.1																																																																																				0.463	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		19	71						19	71	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:24825815_24825817delAGA	ENST00000376454.3	+	17	3557_3559	c.3527_3529delAGA	c.(3526-3531)gagaag>gag	p.K1178del	KIAA1217_ENST00000376451.2_In_Frame_Del_p.K861del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.K1142del|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_In_Frame_Del_p.K1143del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.K861del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.K861del|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1178					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						CCACCCAAGGAGAAGAAGGTAAC	0.517																																						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.(2575-2580)gag>g		KIAA1217																																				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825815_24825817delAGA	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.3527_3529delAGA	10.37:g.24825818_24825820delAGA	ENSP00000365637:p.Lys1178del					KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.EK1140del|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.EK1176del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.EK1141del	p.EK859del			Q5T5P2	SKT_HUMAN			12	2836_2838	+			1176					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2576_2578delAGA	CCDS31165.1																																																																																				0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		28	40						28	40	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gccfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1045-1047)gcfs		NLR family, pyrin domain containing 14							100.0	104.0	102.0					11																	7064303		2201	4296	6497	SO:0001589	frameshift_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064303delC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1046delC	11.37:g.7064303delC	ENSP00000299481:p.Ala349fs						p.A349fs	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1392	+			349			NACHT.		Q7RTR6	Frame_Shift_Del	DEL	ENST00000299481.4	37	c.1046delC	CCDS7776.1																																																																																				0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		30	48						30	48	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:20641147_20641148delGA	ENST00000382874.2	+	21	3479_3480	c.3289_3290delGA	c.(3289-3291)gagfs	p.E1097fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.E1097fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3289-3291)gfs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641147_20641148delGA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3289_3290delGA	13.37:g.20641147_20641148delGA	ENSP00000372327:p.Glu1097fs					ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000382870.2_Frame_Shift_Del_p.E477fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.1_3'UTR	p.E1097fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	20	3540_3541	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1097					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	c.3289_3290delGA	CCDS45016.1																																																																																				0.302	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		11	34						11	34	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)catfs	p.H151fs	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTATTTGTATGGGCTGCCAAA	0.433																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(451-453)atfs		transient receptor potential cation channel, subfamily C, member 4							88.0	105.0	99.0					13																	38320520		2203	4300	6503	SO:0001589	frameshift_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320520delG	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.451delC	13.37:g.38320520delG	ENSP00000369027:p.His151fs					TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379679.1_Intron	p.H151fs			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1308	-			151			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Frame_Shift_Del	DEL	ENST00000379705.3	37	c.451delC	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		49	111						49	111	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tatfs	p.Y965fs	SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.Y914fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.Y965fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.Y950fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.Y956fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.Y965fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.Y777fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.Y777fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCGTAAGTGATATAGGAAGGTG	0.48																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2893-2895)tcafs		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529660_34529661insA	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2894dupT	15.37:g.34529661_34529661dupA	ENSP00000346112:p.Tyr965fs					SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.S914fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.S956fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.S950fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.S965fs	p.S965fs			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3385_3386	-		all_lung(180;2.78e-08)	965					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Frame_Shift_Ins	INS	ENST00000354181.3	37	c.2893_2894insT	CCDS58352.1																																																																																				0.480	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		19	41						19	41	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-	rs368965436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)actctcctggacfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.51																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(673-684)acfs		keratin 9																																				SO:0001589	frameshift_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39726431_39726440delGTCCAGGAGA		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.675_684delTCTCCTGGAC	17.37:g.39726431_39726440delGTCCAGGAGA	ENSP00000246662:p.Thr225fs					KRT9_ENST00000588431.1_5'UTR	p.TLLD225fs	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			2	740_749	-		Breast(137;0.000307)	225			Coil 1B.|Rod.		O00109|Q0IJ47|Q14665	Frame_Shift_Del	DEL	ENST00000246662.4	37	c.675_684delTCTCCTGGAC	CCDS32654.1																																																																																				0.510	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		10	334						10	334	---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gacfs	p.D280fs	PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|SNORA30_ENST00000363193.1_RNA|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(835-837)gcfs		phosphatidylglycerophosphate synthase 1							60.0	69.0	66.0					17																	76396892		2169	4259	6428	SO:0001589	frameshift_variant	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76396892delA		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.836delA	17.37:g.76396892delA	ENSP00000262764:p.Asp280fs					PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs	p.D280fs	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		6	862	+			280					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Frame_Shift_Del	DEL	ENST00000262764.6	37	c.836delA	CCDS42391.1																																																																																				0.637	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		15	57						15	57	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085949_11085951delCAC												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)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
