#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
KMT2D	8085	broad.mit.edu	37	12	49427251	49427265	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-	rs398123707		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-	-	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	ENST00000301067.7	-	39	11222_11236	c.11223_11237delACAGCAGCAGCAGCA	c.(11221-11238)caacagcagcagcagcac>cac	p.QQQQQ3741del	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3741	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3475*(1)|p.Q3745*(1)									TCCTAGAAGGtgctgctgctgctgttgctgctgct	0.591																																						ENST00000301067.7		NA																	2	Substitution - Nonsense(2)	p.Q3475*(1)|p.Q3745*(1)	lung(2)		NA						c.(11221-11238)caacagcagcagcagcac>cac		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11223_11237delACAGCAGCAGCAGCA	12.37:g.49427251_49427265delTGCTGCTGCTGCTGT	ENSP00000301067:p.Gln3741_Gln3745del	True	False		Somatic	1					p.QQQQQ3741del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					39	11222_11236	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.11223_11237delACAGCAGCAGCAGCA	CCDS44873.1																																																																																				0.591	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49427251
BIN2	51411	broad.mit.edu	37	12	51685485	51685486	+	In_Frame_Ins	INS	-	-	TTGGGTATTTAATTTAATTAATTT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:51685485_51685486insTTGGGTATTTAATTTAATTAATTT	ENST00000267012.4	-	10	1465_1466	c.1404_1405insAAATTAATTAAATTAAATACCCAA	c.(1402-1407)aatcca>aatAAATTAATTAAATTAAATACCCAAcca	p.468_469NP>NKLIKLNTQP	BIN2_ENST00000544402.1_In_Frame_Ins_p.442_443NP>NKLIKLNTQP|BIN2_ENST00000452142.2_In_Frame_Ins_p.436_437NP>NKLIKLNTQP|BIN2_ENST00000604560.1_In_Frame_Ins_p.441_442NP>NKLIKLNTQP	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	468	Pro-rich.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGTGGTTCTGGATTAGGAGAGA	0.535																																						ENST00000267012.4		NA																	0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(1402-1407)aatcca>aatAAATTAATTAAATTAAATACCCAAcca		bridging integrator 2																																				SO:0001652	inframe_insertion	51411					cytoplasm	protein binding	g.chr12:51685485_51685486insTTGGGTATTTAATTTAATTAATTT	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1404_1405insAAATTAATTAAATTAAATACCCAA	12.37:g.51685485_51685486insTTGGGTATTTAATTTAATTAATTT	ENSP00000267012:p.Asn468_Pro469insLysLeuIleLysLeuAsnThrGln	False	False		Somatic	0				BIN2_ENST00000452142.2_In_Frame_Ins_p.436_437NP>NKLIKLNTQP|BIN2_ENST00000604560.1_In_Frame_Ins_p.441_442NP>NKLIKLNTQP|BIN2_ENST00000544402.1_In_Frame_Ins_p.442_443NP>NKLIKLNTQP	p.468_469NP>NKLIKLNTQP	NM_016293.2	NP_057377.2	WXS	Illumina HiSeq	Phase_I	Q9UBW5	BIN2_HUMAN			10	1465_1466	-			468			Pro-rich.		Q86VV0|Q9NWK4|Q9UKN4	In_Frame_Ins	INS	ENST00000267012.4	37	c.1404_1405insAAATTAATTAAATTAAATACCCAA	CCDS8811.1																																																																																				0.535	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1	0			12:51685485
SMAD4	4089	broad.mit.edu	37	18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	ACTT	ACTT	-	-	ACTT	ACTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000342988.3	+	12	2121_2124	c.1583_1586delACTT	c.(1582-1587)cacttafs	p.HL528fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	528	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGAAATTCACTTACACCGGGCC	0.495																																						ENST00000588745.1		NA																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.L529fs*7(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1294-1299)cacttafs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604761_48604764delACTT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1583_1586delACTT	18.37:g.48604761_48604764delACTT	ENSP00000341551:p.His528fs	False	False		Somatic	1				SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR	p.HL432fs			WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	8	1295_1298	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	528			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1295_1298delACTT	CCDS11950.1																																																																																				0.495	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48604761
NSL1	25936	broad.mit.edu	37	1	212960972	212960973	+	In_Frame_Ins	INS	-	-	TTGTTTTGAATG			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960972_212960973insTTGTTTTGAATG	ENST00000366977.3	-	2	259_260	c.241_242insCATTCAAAACAA	c.(241-243)gaa>gCATTCAAAACAAaa	p.81_81E>AFKTK	NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000366975.6_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000422588.2_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000473995.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CACAGCTGATTCAAAAGTCTGC	0.317																																						ENST00000366977.3		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(241-243)gaa>gCATTCAAAACAAaa		NSL1, MIS12 kinetochore complex component																																				SO:0001652	inframe_insertion	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212960972_212960973insTTGTTTTGAATG	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.241_242insCATTCAAAACAA	1.37:g.212960972_212960973insTTGTTTTGAATG	ENSP00000355944:p.Glu81delinsAlaPheLysThrLys	True	False		Somatic	0				NSL1_ENST00000422588.2_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000366975.6_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_In_Frame_Ins_p.81_81E>AFKTK	p.81_81E>AFKTK	NM_015471.3	NP_056286.3	WXS	Illumina HiSeq	Phase_I	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	2	259_260	-			81					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	In_Frame_Ins	INS	ENST00000366977.3	37	c.241_242insCATTCAAAACAA	CCDS1509.1																																																																																				0.317	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	0	NM_015471		1:212960972
NSL1	25936	broad.mit.edu	37	1	212960973	212960974	+	Frame_Shift_Ins	INS	-	-	TGTTTTTT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960973_212960974insTGTTTTTT	ENST00000366977.3	-	2	258_259	c.240_241insAAAAAACA	c.(238-243)tttgaafs	p.E81fs	NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000473995.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		ACAGCTGATTCAAAAGTCTGCA	0.317																																						ENST00000366977.3		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(238-243)tttgaafs		NSL1, MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212960973_212960974insTGTTTTTT	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.240_241insAAAAAACA	1.37:g.212960973_212960974insTGTTTTTT	ENSP00000355944:p.Glu81fs	True	False		Somatic	0				NSL1_ENST00000422588.2_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_015471.3	NP_056286.3	WXS	Illumina HiSeq	Phase_I	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	2	258_259	-			81					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Frame_Shift_Ins	INS	ENST00000366977.3	37	c.240_241insAAAAAACA	CCDS1509.1																																																																																				0.317	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	0	NM_015471		1:212960973
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:46279864_46279866delCAA	ENST00000371998.3	+	20	3981_3983	c.3790_3792delCAA	c.(3790-3792)caadel	p.Q1276del	NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000372004.3_In_Frame_Del_p.Q1272del			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567														844	0.16853	0.3699	0.098	5008	,	,		14322	0.0952		0.0795	False		,,,				2504	0.1135					ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3778-3780)caadel		nuclear receptor coactivator 3																																				SO:0001651	inframe_deletion	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279864_46279866delCAA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3790_3792delCAA	20.37:g.46279864_46279866delCAA	ENSP00000361066:p.Gln1276del	True	False		Somatic	1				NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del	p.Q1272del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3994_3996	+			1276			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Del	DEL	ENST00000371998.3	37	c.3778_3780delCAA	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279864
SCN7A	6332	broad.mit.edu	37	2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gtafs	p.V377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	377					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACAAAAAACTTACCACCACAAA	0.347																																						ENST00000409855.1		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1129-1131)gtafs		sodium channel, voltage-gated, type VII, alpha subunit																																				SO:0001589	frameshift_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167313539_167313540insA	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1131dupT	2.37:g.167313540_167313540dupA	ENSP00000386796:p.Val377fs	False	False		Somatic	1					p.V377fs	NM_002976.3	NP_002967.2	WXS	Illumina HiSeq	Phase_I	Q01118	SCN7A_HUMAN			10	1256_1257	-			377						Frame_Shift_Ins	INS	ENST00000409855.1	37	c.1130_1131insT	CCDS46442.1																																																																																				0.347	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	0			2:167313539
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
BCHE	590	broad.mit.edu	37	3	165547968	165547968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:165547968delT	ENST00000264381.3	-	2	1020	c.854delA	c.(853-855)gagfs	p.E285fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	285					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TATTTCAGTCTCATTCTCTCT	0.388																																						ENST00000264381.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(853-855)gagfs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						83.0	87.0	86.0					3																	165547968		2203	4300	6503	SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547968delT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.854delA	3.37:g.165547968delT	ENSP00000264381:p.Glu285fs	False	False		Somatic	1				BCHE_ENST00000540653.1_Intron	p.E285fs	NM_000055.2	NP_000046.1	WXS	Illumina HiSeq	Phase_I	P06276	CHLE_HUMAN			2	1020	-			285					A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	c.854delA	CCDS3198.1																																																																																				0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	0			3:165547968
MECOM	2122	broad.mit.edu	37	3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TTATTAT	TTATTAT	-	-	TTATTAT	TTATTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348																																						ENST00000464456.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1333-1341)aataataagfs		MDS1 and EVI1 complex locus																																				SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833756_168833762delTTATTAT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1334_1340delATAATAA	3.37:g.168833756_168833762delTTATTAT	ENSP00000419770:p.Asn445fs	True	False		Somatic	1				MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs	p.NNK445fs	NM_001164000.1	NP_001157472.1	WXS	Illumina HiSeq	Phase_I	Q13465	MDS1_HUMAN			7	2534_2540	-			0					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.1334_1340delATAATAA	CCDS54669.1																																																																																				0.348	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	0	NM_005241, NM_004991		3:168833756
CWC27	10283	broad.mit.edu	37	5	64081398	64081399	+	In_Frame_Ins	INS	-	-	TATAAT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081398_64081399insTATAAT	ENST00000381070.3	+	5	704_705	c.487_488insTATAAT	c.(487-489)agc>aTATAATgc	p.163_163S>I*C	CWC27_ENST00000508024.1_In_Frame_Ins_p.163_163S>I*C	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CAAAATAAAAAGCTGTGAGGTA	0.342																																						ENST00000508024.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(487-489)agc>aTATAATgc		CWC27 spliceosome-associated protein homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081398_64081399insTATAAT	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	Exception_encountered	5.37:g.64081398_64081399insTATAAT	ENSP00000370460:p.Ser163delinsIle*Cys	True	False		Somatic	0				CWC27_ENST00000381070.3_In_Frame_Ins_p.163_163S>I*C	p.163_163S>I*C			WXS	Illumina HiSeq	Phase_I	Q6UX04	CWC27_HUMAN			5	688_689	+			163			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	In_Frame_Ins	INS	ENST00000381070.3	37	c.487_488insTATAAT	CCDS3982.2																																																																																				0.342	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	0	NM_005869		5:64081398
CWC27	10283	broad.mit.edu	37	5	64081399	64081400	+	In_Frame_Ins	INS	-	-	TAATTGAAAATTATTGCACTCATC			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081399_64081400insTAATTGAAAATTATTGCACTCATC	ENST00000381070.3	+	5	705_706	c.488_489insTAATTGAAAATTATTGCACTCATC	c.(487-492)agctgt>agTAATTGAAAATTATTGCACTCATCctgt	p.162_163insSN*KLLHS	CWC27_ENST00000508024.1_In_Frame_Ins_p.162_163insSN*KLLHS	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	162	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAATAAAAAGCTGTGAGGTAG	0.342																																						ENST00000508024.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(487-492)agctgt>agTAATTGAAAATTATTGCACTCATCctgt		CWC27 spliceosome-associated protein homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081399_64081400insTAATTGAAAATTATTGCACTCATC	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	Exception_encountered	5.37:g.64081399_64081400insTAATTGAAAATTATTGCACTCATC	ENSP00000370460:p.Lys162_Ser163insSerAsn*LysLeuLeuHisSer	False	False		Somatic	0				CWC27_ENST00000381070.3_In_Frame_Ins_p.162_163insSN*KLLHS	p.162_163insSN*KLLHS			WXS	Illumina HiSeq	Phase_I	Q6UX04	CWC27_HUMAN			5	689_690	+			162			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	In_Frame_Ins	INS	ENST00000381070.3	37	c.488_489insTAATTGAAAATTATTGCACTCATC	CCDS3982.2																																																																																				0.342	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	0	NM_005869		5:64081399
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
RREB1	6239	broad.mit.edu	37	6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-	rs532055856	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000349384.6	+	10	2552	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000379938.2_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2236-2238)gacfs		ras responsive element binding protein 1							55.0	51.0	52.0					6																	7230570		2203	4300	6503	SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230570delC	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2238delC	6.37:g.7230570delC	ENSP00000305560:p.Asp746fs	False	False		Somatic	1				RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs	p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			10	2775	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	746					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	37	c.2238delC	CCDS34336.1																																																																																				0.662	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7230570
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ELN	2006	broad.mit.edu	37	7	73474273	73474290	+	In_Frame_Del	DEL	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-	rs201894730|rs533304029|rs56307747	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-	-	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474273_73474290delTGGCTCCTGGAGTTGGCT	ENST00000252034.7	+	23	1871_1888	c.1472_1489delTGGCTCCTGGAGTTGGCT	c.(1471-1491)gtggctcctggagttggcttg>gtg	p.APGVGL492del	ELN_ENST00000357036.5_In_Frame_Del_p.APGVGL497del|ELN_ENST00000380553.4_In_Frame_Del_p.APGVGL356del|ELN_ENST00000380584.4_In_Frame_Del_p.APGVGL459del|ELN_ENST00000380575.4_In_Frame_Del_p.APGVGL463del|ELN_ENST00000380576.5_In_Frame_Del_p.APGVGL473del|ELN_ENST00000429192.1_In_Frame_Del_p.APGVGL478del|ELN_ENST00000320399.6_In_Frame_Del_p.APGVGL492del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_In_Frame_Del_p.APGVGL468del|ELN_ENST00000445912.1_In_Frame_Del_p.APGVGL492del|ELN_ENST00000358929.4_In_Frame_Del_p.APGVGL527del|ELN_ENST00000380562.4_In_Frame_Del_p.APGVGL498del|ELN_ENST00000320492.7_In_Frame_Del_p.APGVGL411del|ELN_ENST00000458204.1_In_Frame_Del_p.APGVGL482del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGTGTCGGTGTGGCTCCTGGAGTTGGCTTGGCTCCTGG	0.592			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1471-1491)gtggctcctggagttggcttg>gtg		elastin	Rofecoxib(DB00533)																																			SO:0001651	inframe_deletion	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474273_73474290delTGGCTCCTGGAGTTGGCT		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1472_1489delTGGCTCCTGGAGTTGGCT	7.37:g.73474273_73474290delTGGCTCCTGGAGTTGGCT	ENSP00000252034:p.Ala492_Leu497del	False	False		Somatic	1				ELN_ENST00000458204.1_In_Frame_Del_p.APGVGL482del|ELN_ENST00000445912.1_In_Frame_Del_p.APGVGL492del|ELN_ENST00000320492.7_In_Frame_Del_p.APGVGL411del|ELN_ENST00000429192.1_In_Frame_Del_p.APGVGL478del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_In_Frame_Del_p.APGVGL468del|ELN_ENST00000380553.4_In_Frame_Del_p.APGVGL356del|ELN_ENST00000380562.4_In_Frame_Del_p.APGVGL498del|ELN_ENST00000380575.4_In_Frame_Del_p.APGVGL463del|ELN_ENST00000380576.5_In_Frame_Del_p.APGVGL473del|ELN_ENST00000380584.4_In_Frame_Del_p.APGVGL459del|ELN_ENST00000358929.4_In_Frame_Del_p.APGVGL527del|ELN_ENST00000357036.5_In_Frame_Del_p.APGVGL497del|ELN_ENST00000320399.6_In_Frame_Del_p.APGVGL492del	p.APGVGL492del	NM_000501.2	NP_000492.2	WXS	Illumina HiSeq	Phase_I	P15502	ELN_HUMAN			23	1871_1888	+		Lung NSC(55;0.159)	521			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	c.1472_1489delTGGCTCCTGGAGTTGGCT	CCDS5562.2																																																																																				0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	0	NM_000501		7:73474273
VLDLR	7436	broad.mit.edu	37	9	2648807	2648817	+	Splice_Site	DEL	TCAGGTACCGT	TCAGGTACCGT	-	rs201953557|rs565582324	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TCAGGTACCGT	TCAGGTACCGT	-	-	TCAGGTACCGT	TCAGGTACCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:2648807_2648817delTCAGGTACCGT	ENST00000382100.3	+	14	2457_2460	c.2101_2104delTCAGGTACCGT	c.(2101-2106)tcaggt>gt	p.SG701fs	VLDLR_ENST00000382099.2_Splice_Site_p.SG701fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	701					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTACAGCCATCAGGTACCGTGGAGAAGCAC	0.441																																						ENST00000382100.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2101-2106)tcaggt>gt		very low density lipoprotein receptor																																				SO:0001630	splice_region_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2648807_2648817delTCAGGTACCGT		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2104+1TCAGGTACCGT>-	9.37:g.2648807_2648817delTCAGGTACCGT		False	False		Somatic	1				VLDLR_ENST00000382099.2_Splice_Site_p.SG701fs	p.SG701fs	NM_003383.3	NP_003374.3	WXS	Illumina HiSeq	Phase_I	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	14	2457_2460	+			701					B2RMZ7|D3DRH6|Q5VVF6	Splice_Site	DEL	ENST00000382100.3	37	c.2101_2104delTCAGGTACCGT	CCDS6446.1																																																																																				0.441	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	0	NM_003383	Frame_Shift_Del	9:2648807
RIC1	57589	broad.mit.edu	37	9	5762622	5762623	+	Frame_Shift_Ins	INS	-	-	ATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	rs145869379		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:5762622_5762623insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	ENST00000414202.2	+	18	2265_2266	c.2074_2075insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	c.(2074-2076)cggfs	p.R692fs	KIAA1432_ENST00000381532.2_Frame_Shift_Ins_p.R613fs|KIAA1432_ENST00000251879.6_Frame_Shift_Ins_p.R692fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.R576fs|KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.R613fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCACAGATCCGGGAGAAGGAC	0.436																																						ENST00000414202.2		NA																	0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2074-2076)cggfs		KIAA1432																																				SO:0001589	frameshift_variant	57589					integral to membrane		g.chr9:5762622_5762623insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT																												Exception_encountered	9.37:g.5762622_5762623insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	ENSP00000416696:p.Arg692fs	True	False		Somatic	0				KIAA1432_ENST00000381532.2_Frame_Shift_Ins_p.R613fs|KIAA1432_ENST00000251879.6_Frame_Shift_Ins_p.R692fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.R576fs|KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.R613fs	p.R692fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	WXS	Illumina HiSeq	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2265_2266	+		Acute lymphoblastic leukemia(23;0.154)	692						Frame_Shift_Ins	INS	ENST00000414202.2	37	c.2074_2075insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	CCDS34982.2																																																																																				0.436	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	0			9:5762622
STK10	6793	broad.mit.edu	37	5	171583761	171583761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:171583761G>A	ENST00000176763.5	-	2	531	c.188C>T	c.(187-189)gCg>gTg	p.A63V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACTTTGGCCGCAGCCAAAGC	0.547																																						ENST00000176763.5		NA																	0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(187-189)gCg>gTg		serine/threonine kinase 10							167.0	130.0	143.0					5																	171583761		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171583761G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.188C>T	5.37:g.171583761G>A	ENSP00000176763:p.Ala63Val	False	False		Somatic	0					p.A63V	NM_005990.3	NP_005981.3	WXS	Illumina HiSeq	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	531	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	63			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.188C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884146	0.91814	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.39592	1.07	5.53	5.53	0.82687	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	0.65123	0.2661	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67791	-0.5579	10	0.87932	D	0	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	63	O94804	STK10_HUMAN	V	63	ENSP00000176763:A63V	ENSP00000176763:A63V	A	-	2	0	STK10	171516366	1.000000	0.71417	0.160000	0.22671	0.716000	0.41182	9.826000	0.99387	2.588000	0.87417	0.561000	0.74099	GCG		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	0	NM_005990		5:171583761
PCDH15	65217	broad.mit.edu	37	10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000320301.6	-	14	2123	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000373965.2_Missense_Mutation_p.R584W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGTAAGTCCGCCCGACTATC	0.483										HNSCC(58;0.16)																												ENST00000373965.2		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1750-1752)Cgg>Tgg		protocadherin-related 15							137.0	119.0	125.0					10																	55912915		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912915G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1729C>T	10.37:g.55912915G>A	ENSP00000322604:p.Arg577Trp	True	False	HNSCC(58;0.16)	Somatic	0				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W	p.R584W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina HiSeq	Phase_I	Q96QU1	PCD15_HUMAN			15	2144	-		Melanoma(3;0.117)|Lung SC(717;0.238)	577			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1750C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945863	0.34377	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.83	2.87	0.33458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76751	0.4031	M	0.88979	2.995	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;1.0;1.0;0.997;1.0;1.0;0.994;0.997;0.987;0.997;0.999	D;P;P;P;D;D;D;P;D;D;P;P;P;P;P	0.67725	0.932;0.901;0.901;0.849;0.932;0.932;0.932;0.883;0.953;0.953;0.832;0.832;0.742;0.893;0.901	T	0.66689	-0.5860	9	0.87932	D	0	.	10.5008	0.44804	0.0:0.1241:0.4926:0.3833	.	555;577;577;582;577;540;577;577;584;584;577;582;577;555;577	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	W	584;582;577;577;188;584;577;540;577;555;555;577;577;582;577;577	ENSP00000363076:R584W;ENSP00000410304:R582W;ENSP00000378826:R577W;ENSP00000386693:R188W;ENSP00000378832:R584W;ENSP00000378833:R577W;ENSP00000378820:R540W;ENSP00000354950:R577W;ENSP00000378821:R555W;ENSP00000363068:R555W;ENSP00000322604:R577W;ENSP00000378818:R577W;ENSP00000412628:R577W;ENSP00000363066:R577W	ENSP00000322604:R577W	R	-	1	2	PCDH15	55582921	0.019000	0.18553	0.006000	0.13384	0.053000	0.15095	1.942000	0.40243	0.331000	0.23511	0.650000	0.86243	CGG		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	0	NM_033056		10:55912915
RASA3	22821	broad.mit.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T	rs557790275		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		21135	0.001		0.0	False		,,,				2504	0.0					ENST00000334062.7		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1684-1686)tcG>tcA		RAS p21 protein activator 3							114.0	94.0	101.0					13																	114773065		2201	4298	6499	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114773065C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1686G>A	13.37:g.114773065C>T		False	False		Somatic	0				RASA3_ENST00000389544.4_Silent_p.S530S	p.S562S	NM_007368.2	NP_031394.2	WXS	Illumina HiSeq	Phase_I	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		18	1807	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	562					A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1686G>A	CCDS32016.1																																																																																				0.552	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	0	NM_007368		13:114773065
NCAPD3	23310	broad.mit.edu	37	11	134054844	134054844	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:134054844C>T	ENST00000534548.2	-	18	2353	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	763					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGCAATATGCCCAATCACAC	0.438																																						ENST00000534548.2		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2287-2289)ggG>ggA		non-SMC condensin II complex, subunit D3							308.0	314.0	312.0					11																	134054844		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054844C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2289G>A	11.37:g.134054844C>T		True	False		Somatic	0				RP11-700F16.3_ENST00000531710.1_RNA	p.G763G	NM_015261.2	NP_056076.1	WXS	Illumina HiSeq	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	18	2353	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	763					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2289G>A	CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	0	NM_015261		11:134054844
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTTCCCGCGACCCCAGGTG	0.632																																						ENST00000205890.5		NA																	0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1444-1446)cGa>cAa		myosin XVA							38.0	45.0	43.0					17																	18023559		2049	4191	6240	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023559G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1445G>A	17.37:g.18023559G>A	ENSP00000205890:p.Arg482Gln	False	False		Somatic	0					p.R482Q	NM_016239.3	NP_057323.3	WXS	Illumina HiSeq	Phase_I	Q9UKN7	MYO15_HUMAN			2	1783	+	all_neural(463;0.228)		482			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1445G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131602	0.77662	.	.	ENSG00000091536	ENST00000205890	T	0.51325	0.71	5.1	5.1	0.69264	.	.	.	.	.	T	0.59756	0.2217	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61978	-0.6951	9	0.54805	T	0.06	.	18.1103	0.89533	0.0:0.0:1.0:0.0	.	482	Q9UKN7	MYO15_HUMAN	Q	482	ENSP00000205890:R482Q	ENSP00000205890:R482Q	R	+	2	0	MYO15A	17964284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.973000	0.88032	2.374000	0.81015	0.561000	0.74099	CGA		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	0	NM_016239		17:18023559
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GGGGTGGTCCGGAAGGCCGGG	0.542																																						ENST00000461783.3		NA																	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.(1522-1524)cGg>cAg		T-cell lymphoma invasion and metastasis 2							65.0	70.0	68.0					6																	155458639		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.chr6:155458639G>A		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.1523G>A	6.37:g.155458639G>A	ENSP00000437188:p.Arg508Gln	False	False		Somatic	0				TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q	p.R508Q			WXS	Illumina HiSeq	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2796	+		Ovarian(120;0.196)	508			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1523G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737056	0.96865	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.84890	0.0836	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	508;508	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	508;754;508;508;508;508;508	ENSP00000437188:R508Q;ENSP00000434901:R508Q;ENSP00000407746:R508Q;ENSP00000327315:R508Q;ENSP00000353528:R508Q;ENSP00000433348:R508Q	ENSP00000327315:R508Q	R	+	2	0	TIAM2	155500331	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGG		0.542	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	NM_012454		6:155458639
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5		NA																	1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		False	False		Somatic	0				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S769S	NM_001014342.2	NP_001014364.1	WXS	Illumina HiSeq	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	0	NM_001014342		1:152327955
SHANK2	22941	broad.mit.edu	37	11	70332638	70332638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:70332638G>A	ENST00000423696.2	-	15	2659	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1255W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTGGGCCGCATTTTGGTA	0.617																																						ENST00000338508.4		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3763-3765)Cgg>Tgg		SH3 and multiple ankyrin repeat domains 2							81.0	89.0	86.0					11																	70332638		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332638G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2623C>T	11.37:g.70332638G>A	ENSP00000394536:p.Arg875Trp	False	False		Somatic	0				SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W	p.R1255W			WXS	Illumina HiSeq	Phase_I	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3762	-			875					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3763C>T		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255722	0.39896	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	4.88	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.56372	-0.7990	10	0.87932	D	0	.	12.6585	0.56801	0.0:0.0:0.5831:0.4169	.	875;1254;659	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	659;658;533;1255;875;893;878	ENSP00000399423:R659W;ENSP00000386491:R658W;ENSP00000402944:R533W;ENSP00000345193:R1255W;ENSP00000394536:R875W;ENSP00000294018:R878W	ENSP00000294018:R878W	R	-	1	2	SHANK2	70010286	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.409000	0.52657	1.026000	0.39733	-0.310000	0.09108	CGG		0.617	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	NM_012309		11:70332638
NOTCH1	4851	broad.mit.edu	37	9	139404265	139404265	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139404265G>A	ENST00000277541.6	-	18	2964	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	963	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCTGTCCACGCAGTCCGTGC	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6		NA		Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2887-2889)tgC>tgT		notch 1							74.0	85.0	81.0					9																	139404265		2098	4226	6324	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404265G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2889C>T	9.37:g.139404265G>A		False	False	HNSCC(8;0.001)	Somatic	0					p.C963C	NM_017617.3	NP_060087.3	WXS	Illumina HiSeq	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2964	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	963			EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.2889C>T	CCDS43905.1																																																																																				0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	NM_017617		9:139404265
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000375104.2_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																						ENST00000427134.2		NA																	3	Substitution - Missense(3)	p.T136I(3)	lung(3)	endometrium(1)|lung(7)|urinary_tract(2)	10						c.(406-408)aCc>aTc		ring finger protein 5, E3 ubiquitin protein ligase							151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147865C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile	False	False		Somatic	0				RNF5_ENST00000375094.3_Missense_Mutation_p.T136I	p.T136I			WXS	Illumina HiSeq	Phase_I	Q99942	RNF5_HUMAN			5	422	+			136					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.407C>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	0	NM_006913		6:32147865
AFF2	2334	broad.mit.edu	37	X	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	308					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAACCTTCAATTGAATTT	0.478																																						ENST00000370460.2		NA																	0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(922-924)tCa>tAa		AF4/FMR2 family, member 2							87.0	79.0	82.0					X																	147744171		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744171C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.923C>A	X.37:g.147744171C>A	ENSP00000359489:p.Ser308*	False	False		Somatic	0				AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	p.S308*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina HiSeq	Phase_I	P51816	AFF2_HUMAN			3	1402	+	Acute lymphoblastic leukemia(192;6.56e-05)		308					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.923C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	8.941224	0.99010	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.92	4.89	0.63831	.	0.113933	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8604	0.70376	0.0:0.9173:0.0:0.0827	.	.	.	.	X	308;304;304;304	.	ENSP00000345459:S304X	S	+	2	0	AFF2	147551863	0.999000	0.42202	0.959000	0.39883	0.949000	0.60115	4.247000	0.58750	2.492000	0.84095	0.600000	0.82982	TCA		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	NM_002025		X:147744171
PLD5	200150	broad.mit.edu	37	1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E|PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	463						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCAGCATTCTGAGTGAAATCA	0.398																																						ENST00000536534.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1387-1389)Cag>Gag		phospholipase D family, member 5							120.0	115.0	117.0					1																	242253380		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253380G>C	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1387C>G	1.37:g.242253380G>C	ENSP00000440896:p.Gln463Glu	False	False		Somatic	0				PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E	p.Q463E			WXS	Illumina HiSeq	Phase_I	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1628	-	Melanoma(84;0.242)		NA					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1387C>G	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505959	0.00992	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.137275	0.53938	D	0.000055	T	0.16599	0.0399	L	0.49126	1.545	0.30380	N	0.782052	B;P;B	0.39250	0.372;0.665;0.372	B;B;B	0.32677	0.15;0.119;0.15	T	0.10870	-1.0611	10	0.08837	T	0.75	-7.7223	13.5982	0.62002	0.0:0.0:0.8451:0.1548	.	371;463;401	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	401;371;463	ENSP00000401285:Q401E;ENSP00000414188:Q371E;ENSP00000440896:Q463E	ENSP00000401285:Q401E	Q	-	1	0	PLD5	240320003	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.937000	0.56575	2.723000	0.93209	0.655000	0.94253	CAG		0.398	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	0	NM_152666		1:242253380
SCN4A	6329	broad.mit.edu	37	17	62018160	62018160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:62018160G>A	ENST00000435607.1	-	24	5558	c.5482C>T	c.(5482-5484)Cgc>Tgc	p.R1828C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1828C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACCTGGGCGCACAGTCTGC	0.677																																						ENST00000578147.1		NA																	0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5482-5484)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						36.0	46.0	43.0					17																	62018160		2050	4192	6242	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018160G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5482C>T	17.37:g.62018160G>A	ENSP00000396320:p.Arg1828Cys	False	False		Somatic	0				SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C	p.R1828C			WXS	Illumina HiSeq	Phase_I	P35499	SCN4A_HUMAN			24	5558	-			1828					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.5482C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433830	0.25813	.	.	ENSG00000007314	ENST00000435607	D	0.96619	-4.07	4.32	3.33	0.38152	.	1.836130	0.02649	N	0.106191	D	0.90721	0.7088	N	0.08118	0	0.39747	D	0.971837	B	0.12630	0.006	B	0.04013	0.001	T	0.81623	-0.0849	10	0.52906	T	0.07	.	4.8736	0.13646	0.1119:0.0:0.6728:0.2154	.	1828	P35499	SCN4A_HUMAN	C	1828	ENSP00000396320:R1828C	ENSP00000396320:R1828C	R	-	1	0	SCN4A	59371892	0.936000	0.31750	0.992000	0.48379	0.021000	0.10359	1.458000	0.35223	1.143000	0.42306	0.561000	0.74099	CGC		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_000334		17:62018160
COL23A1	91522	broad.mit.edu	37	5	177688748	177688748	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562																																						ENST00000390654.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(676-678)gGc>gTc		collagen, type XXIII, alpha 1							56.0	61.0	60.0					5																	177688748		1913	4113	6026	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177688748C>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.676-1G>T	5.37:g.177688748C>A		True	False		Somatic	0				COL23A1_ENST00000407622.1_Splice_Site_p.G190V	p.G226V	NM_173465.3	NP_775736.2	WXS	Illumina HiSeq	Phase_I	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	11	1034	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	226			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Splice_Site	SNP	ENST00000390654.3	37	c.677G>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606433	0.46527	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.99637	-6.29;-6.29	5.29	5.29	0.74685	.	0.150367	0.42548	D	0.000684	D	0.99802	0.9915	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96894	0.9655	10	0.87932	D	0	-8.2243	14.438	0.67296	0.0:1.0:0.0:0.0	.	226	Q86Y22	CONA1_HUMAN	V	226;190	ENSP00000375069:G226V;ENSP00000385092:G190V	ENSP00000375069:G226V	G	-	2	0	COL23A1	177621354	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	3.891000	0.56227	2.469000	0.83416	0.491000	0.48974	GGC		0.562	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	0	NM_173465	Missense_Mutation	5:177688748
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453																																						ENST00000361285.4		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(151-153)cGg>cAg		transmembrane phosphatase with tensin homology							234.0	220.0	225.0					21																	10969096		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969096C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>A	21.37:g.10969096C>T	ENSP00000355208:p.Arg51Gln	True	False		Somatic	0				TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	p.R51Q	NM_199261.2	NP_954870	WXS	Illumina HiSeq	Phase_I	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	481	-			51					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.152G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078	0.012302	0.07912	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558	-1.12	0.09808	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG		0.453	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0			21:10969096
PSG5	5673	broad.mit.edu	37	19	43679528	43679528	+	Missense_Mutation	SNP	G	G	A	rs374635478		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:43679528G>A	ENST00000366175.3	-	4	933	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000404580.1_Missense_Mutation_p.P268L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	268	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATACTCTGCCGGTGGGTTAGA	0.463																																						ENST00000404580.1		NA																	1	Substitution - Missense(1)	p.P268L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(802-804)cCg>cTg		pregnancy specific beta-1-glycoprotein 5		G	LEU/PRO,LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	158.0	172.0	168.0		803,803	1.2	0.1	19		168	0,8590		0,0,4295	no	missense,missense	PSG5	NM_002781.3,NM_001130014.1	98,98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	268/336,268/336	43679528	1,12993	2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679528G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.803C>T	19.37:g.43679528G>A	ENSP00000382334:p.Pro268Leu	False	False		Somatic	0				PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L	p.P268L			WXS	Illumina HiSeq	Phase_I	Q15238	PSG5_HUMAN			4	891	-		Prostate(69;0.00899)	268			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.803C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	8.795	0.931418	0.18131	2.27E-4	0.0	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	1.25	1.25	0.21368	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20210	0.0486	M	0.69823	2.125	0.24795	N	0.992738	B;B	0.27971	0.196;0.006	B;B	0.40285	0.325;0.018	T	0.32561	-0.9902	9	0.40728	T	0.16	.	5.8107	0.18465	0.0:0.0:1.0:0.0	.	361;268	Q15228;Q15238	.;PSG5_HUMAN	L	268	ENSP00000382334:P268L;ENSP00000386008:P268L;ENSP00000344413:P268L;ENSP00000385250:P268L	ENSP00000344413:P268L	P	-	2	0	PSG5	48371368	0.845000	0.29573	0.103000	0.21229	0.039000	0.13416	2.369000	0.44231	0.644000	0.30656	0.184000	0.17185	CCG		0.463	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	NM_002781		19:43679528
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87.0	95.0	92.0					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val	False	False		Somatic	0				GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V	p.A240V			WXS	Illumina HiSeq	Phase_I	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	0	NM_015721		17:650531
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T	rs200816838		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). {ECO:0000305}.	activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18722	0.001		0.0	False		,,,				2504	0.0				GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1549-1551)cGc>cAc		mitogen-activated protein kinase kinase kinase 9							100.0	94.0	96.0					14																	71209085		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209085C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1550G>A	14.37:g.71209085C>T	ENSP00000451612:p.Arg517His	False	False		Somatic	0				MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H	p.R517H	NM_001284230.1	NP_001271159.1	WXS	Illumina HiSeq	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	6	1549	-			517	KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).				A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1550G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.947067	0.34377	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.617000	0.54181	1.577000	0.49804	-0.150000	0.13652	CGC		0.602	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0			14:71209085
TTN	7273	broad.mit.edu	37	2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000591111.1	-	276	69874	c.69650T>A	c.(69649-69651)aTt>aAt	p.I23217N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I24858N|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 68. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTGATACAATTTGCCAGGT	0.418																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(74572-74574)aTt>aAt		titin							86.0	75.0	79.0					2																	179436286		1877	4115	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436286A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69650T>A	2.37:g.179436286A>T	ENSP00000465570:p.Ile23217Asn	True	False		Somatic	0				TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.I24858N	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74797	-			23217			Fibronectin type-III 81.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74573T>A		.	.	.	.	.	.	.	.	.	.	A	11.56	1.674275	0.29693	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53786	0.1818	N	0.14661	0.345	0.51482	D	0.999922	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.58331	0.837;0.837;0.837;0.828	T	0.61535	-0.7043	9	0.87932	D	0	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	15793;15918;15985;23217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22290;15793;15985;15918;15791	ENSP00000343764:I22290N;ENSP00000434586:I15793N;ENSP00000340554:I15985N;ENSP00000352154:I15918N	ENSP00000340554:I15985N	I	-	2	0	TTN	179144532	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.251000	0.78297	2.261000	0.74972	0.528000	0.53228	ATT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179436286
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2		NA																	0					NA																																														0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T		False	False		Somatic	0						NR_003521.1		WXS	Illumina HiSeq	Phase_I					0	1785	-			NA					Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	0	NR_003521		15:23191911
TOX2	84969	broad.mit.edu	37	20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706																																						ENST00000358131.5		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1069-1071)cGg>cAg		TOX high mobility group box family member 2							41.0	46.0	44.0					20																	42694515		2203	4298	6501	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694515G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1070G>A	20.37:g.42694515G>A	ENSP00000350849:p.Arg357Gln	True	False		Somatic	0				TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q	p.R357Q	NM_001098798.1	NP_001092268.1	WXS	Illumina HiSeq	Phase_I	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1278	+		Myeloproliferative disorder(115;0.00452)	357					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1070G>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536841	0.45176	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.14766	2.72;2.73;2.73;2.57;2.48	5.11	4.16	0.48862	.	0.000000	0.39687	N	0.001299	T	0.22003	0.0530	L	0.37850	1.14	0.45946	D	0.998777	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.99;0.978;0.978	T	0.03576	-1.1023	10	0.07325	T	0.83	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	253;375;357;333	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	Q	375;333;333;357;253	ENSP00000344724:R375Q;ENSP00000390278:R333Q;ENSP00000362090:R333Q;ENSP00000350849:R357Q;ENSP00000396777:R253Q	ENSP00000344724:R375Q	R	+	2	0	TOX2	42127929	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	5.322000	0.65852	1.282000	0.44496	-0.136000	0.14681	CGG		0.706	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	0			20:42694515
MRGPRX2	117194	broad.mit.edu	37	11	19077764	19077764	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049). {ECO:0000269|PubMed:15862286, ECO:0000269|Ref.5}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2		NA																	0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(184-186)aaC>aaT		MAS-related GPR, member X2							82.0	90.0	87.0					11																	19077764		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077764G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.186C>T	11.37:g.19077764G>A		False	False		Somatic	0					p.N62N	NM_054030.2	NP_473371.1	WXS	Illumina HiSeq	Phase_I	Q96LB1	MRGX2_HUMAN			2	273	-			62		N -> S (in dbSNP:rs10833049).			B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.186C>T	CCDS7847.1																																																																																				0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	0	NM_054030		11:19077764
CELSR2	1952	broad.mit.edu	37	1	109795748	109795748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109795748G>A	ENST00000271332.3	+	1	3108	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1016	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTTGACCGCAATGACAAC	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3046-3048)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							82.0	79.0	80.0					1																	109795748		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795748G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3047G>A	1.37:g.109795748G>A	ENSP00000271332:p.Arg1016His	False	False		Somatic	0					p.R1016H	NM_001408.2	NP_001399.1	WXS	Illumina HiSeq	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3108	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1016			Cadherin 8.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3047G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.76	2.632907	0.47049	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30386	0.0763	L	0.36672	1.1	0.35802	D	0.82319	P	0.51240	0.943	B	0.43194	0.411	T	0.38001	-0.9681	9	0.42905	T	0.14	.	4.3406	0.11108	0.1982:0.1982:0.6036:0.0	.	1016	Q9HCU4	CELR2_HUMAN	H	1016	ENSP00000271332:R1016H	ENSP00000271332:R1016H	R	+	2	0	CELSR2	109597271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.726000	0.38085	2.591000	0.87537	0.650000	0.86243	CGC		0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	0	NM_001408		1:109795748
SDSL	113675	broad.mit.edu	37	12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	165					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCTGAGGACCCCACCAGGTGC	0.682																																						ENST00000403593.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(493-495)Cca>Tca		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						15.0	16.0	16.0					12																	113873183		2197	4293	6490	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873183C>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.493C>T	12.37:g.113873183C>T	ENSP00000385790:p.Pro165Ser	True	False		Somatic	0				SDSL_ENST00000345635.4_Missense_Mutation_p.P165S	p.P165S			WXS	Illumina HiSeq	Phase_I	Q96GA7	SDSL_HUMAN			6	755	+			165						Missense_Mutation	SNP	ENST00000403593.4	37	c.493C>T	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401157	0.25291	.	.	ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635	D;D;D	0.96554	-4.05;-4.05;-4.05	4.49	4.49	0.54785	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.187421	0.42682	D	0.000666	D	0.93255	0.7851	L	0.56280	1.765	0.31826	N	0.625354	B	0.17852	0.024	B	0.14023	0.01	D	0.88786	0.3274	10	0.12430	T	0.62	-12.8961	12.3743	0.55271	0.2143:0.7856:0.0:0.0	.	165	Q96GA7	SDSL_HUMAN	S	165;107;165	ENSP00000385790:P165S;ENSP00000448868:P107S;ENSP00000341117:P165S	ENSP00000341117:P165S	P	+	1	0	SDSL	112357566	0.993000	0.37304	0.998000	0.56505	0.402000	0.30811	3.344000	0.52174	2.209000	0.71365	0.462000	0.41574	CCA		0.682	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	0	NM_138432		12:113873183
ABCA1	19	broad.mit.edu	37	9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1831					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCTTTCCAGGGCATCAGCCAT	0.468																																						ENST00000374736.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5491-5493)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						159.0	146.0	151.0					9																	107556682		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107556682G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5492C>T	9.37:g.107556682G>A	ENSP00000363868:p.Ala1831Val	True	False		Somatic	0					p.A1831V	NM_005502.3	NP_005493.2	WXS	Illumina HiSeq	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	40	5886	-			1831					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5492C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460143	0.43736	.	.	ENSG00000165029	ENST00000374736	D	0.88664	-2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.33189	0.99	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.80339	-0.1424	10	0.12430	T	0.62	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	1831	O95477	ABCA1_HUMAN	V	1831	ENSP00000363868:A1831V	ENSP00000363868:A1831V	A	-	2	0	ABCA1	106596503	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.641000	0.89580	0.650000	0.86243	GCC		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	0	NM_005502		9:107556682
RCAN2	10231	broad.mit.edu	37	6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000330430.6	-	3	619	c.431C>T	c.(430-432)cCa>cTa	p.P144L	RCAN2_ENST00000371374.1_Missense_Mutation_p.P190L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488																																						ENST00000371374.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(568-570)cCa>cTa		regulator of calcineurin 2							47.0	49.0	48.0					6																	46214487		1931	4137	6068	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46214487G>A	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.431C>T	6.37:g.46214487G>A	ENSP00000329454:p.Pro144Leu	False	False		Somatic	0				RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	p.P190L	NM_001251974.1	NP_001238903.1	WXS	Illumina HiSeq	Phase_I	Q14206	RCAN2_HUMAN			4	760	-			144					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.569C>T	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100723	0.94245	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.73217	2.22	0.80722	D	1	P;P	0.50710	0.938;0.775	P;B	0.58130	0.833;0.396	T	0.74609	-0.3608	9	0.87932	D	0	-9.8695	18.8222	0.92102	0.0:0.0:1.0:0.0	.	190;144	Q14206-2;Q14206	.;RCAN2_HUMAN	L	144;190;190;190	.	ENSP00000305223:P190L	P	-	2	0	RCAN2	46322446	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.703000	0.92315	0.585000	0.79938	CCA		0.488	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1	0			6:46214487
ERCC4	2072	broad.mit.edu	37	16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	65	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTCAACACGCAGCCGGCCGA	0.697			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(193-195)Cag>Tag	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							10.0	11.0	10.0					16																	14014215		2174	4277	6451	SO:0001587	stop_gained	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14014215C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.193C>T	16.37:g.14014215C>T	ENSP00000310520:p.Gln65*	False	False		Somatic	0				ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	p.Q65*	NM_005236.2	NP_005227.1	WXS	Illumina HiSeq	Phase_I	Q92889	XPF_HUMAN			1	202	+			65					A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	c.193C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	37	6.363938	0.97507	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	4.98	4.98	0.66077	.	0.436137	0.26696	N	0.022966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.2254	11.0818	0.48064	0.2766:0.7234:0.0:0.0	.	.	.	.	X	65;54;54	.	ENSP00000310520:Q65X	Q	+	1	0	ERCC4	13921716	0.976000	0.34144	1.000000	0.80357	0.937000	0.57800	3.363000	0.52321	2.741000	0.93983	0.655000	0.94253	CAG		0.697	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	0	NM_005236		16:14014215
ATP6V0A1	535	broad.mit.edu	37	17	40666417	40666417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:40666417G>A	ENST00000343619.4	+	21	2482	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|MIR5010_ENST00000582846.1_RNA|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	787					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CACCCTGACCGTGGCCATCCT	0.617																																						ENST00000343619.4		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(2359-2361)Gtg>Atg		ATPase, H+ transporting, lysosomal V0 subunit a1							198.0	168.0	178.0					17																	40666417		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40666417G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2359G>A	17.37:g.40666417G>A	ENSP00000342951:p.Val787Met	False	False		Somatic	0				ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M	p.V787M	NM_001130021.1	NP_001123493.1	WXS	Illumina HiSeq	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	21	2482	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	787					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2359G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701079	0.88924	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.57	4.57	0.56435	.	0.062472	0.64402	D	0.000005	D	0.94594	0.8258	H	0.95294	3.65	0.80722	D	1	D;D;D;D;D	0.89917	0.983;0.997;0.99;0.983;1.0	D;D;D;P;D	0.69307	0.922;0.95;0.922;0.869;0.963	D	0.95204	0.8319	10	0.72032	D	0.01	-23.0287	11.0728	0.48014	0.085:0.0:0.915:0.0	.	738;744;788;787;781	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	M	787;787;781;788;738;433	ENSP00000342951:V787M;ENSP00000444676:V787M;ENSP00000377415:V781M;ENSP00000264649:V788M;ENSP00000443991:V738M;ENSP00000446377:V433M	ENSP00000264649:V788M	V	+	1	0	ATP6V0A1	37919943	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.859000	0.86982	2.390000	0.81377	0.561000	0.74099	GTG		0.617	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	0	NM_001130020		17:40666417
TRPV4	59341	broad.mit.edu	37	12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A	rs267607143		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	315			R -> W (in CMT2C). {ECO:0000269|PubMed:20037588, ECO:0000269|PubMed:21115951}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTGGCGCCGCATGTCCGCC	0.612																																						ENST00000418703.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(943-945)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 4							94.0	76.0	82.0					12																	110236628		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236628G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.943C>T	12.37:g.110236628G>A	ENSP00000406191:p.Arg315Trp	False	False		Somatic	0				TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W	p.R315W	NM_001177431.1	NP_001170902.1	WXS	Illumina HiSeq	Phase_I	Q9HBA0	TRPV4_HUMAN			5	1037	-			315		R -> W (in CMT2C).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.943C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751278	0.69533	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	4.37	2.43	0.29744	Ankyrin repeat-containing domain (3);	0.055968	0.64402	D	0.000001	T	0.79370	0.4434	L	0.59967	1.855	0.33765	D	0.622362	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;P;D;P;P	0.76575	0.988;0.899;0.985;0.827;0.863	D	0.84213	0.0457	10	0.66056	D	0.02	-17.2861	12.0415	0.53456	0.0:0.0:0.6756:0.3244	.	315;315;268;268;281	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	315;315;268;315;268;315;268;281	ENSP00000406191:R315W;ENSP00000261740:R315W;ENSP00000376480:R268W;ENSP00000319003:R315W;ENSP00000443611:R268W;ENSP00000442738:R315W;ENSP00000442167:R268W;ENSP00000444336:R281W	ENSP00000261740:R315W	R	-	1	2	TRPV4	108721011	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.154000	0.58125	0.525000	0.28522	0.655000	0.94253	CGG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	NM_021625		12:110236628
TMEM140	55281	broad.mit.edu	37	7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.3	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	20						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582																																						ENST00000275767.3		NA																	0				kidney(1)|large_intestine(2)|lung(2)	5						c.(58-60)Ctc>Atc		transmembrane protein 140							163.0	140.0	148.0					7																	134849251		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849251C>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.58C>A	7.37:g.134849251C>A	ENSP00000275767:p.Leu20Ile	False	False		Somatic	0				C7orf49_ENST00000459937.1_Intron	p.L20I	NM_018295.3	NP_060765.4	WXS	Illumina HiSeq	Phase_I	Q9NV12	TM140_HUMAN			2	281	+			NA					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.58C>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360163	0.41801	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19938	2.11	5.68	3.88	0.44766	.	0.680771	0.13146	N	0.410298	T	0.23965	0.0580	L	0.59436	1.845	0.09310	N	1	P	0.51351	0.944	B	0.44108	0.441	T	0.08066	-1.0740	10	0.40728	T	0.16	-9.2845	9.0526	0.36385	0.0:0.763:0.157:0.08	.	20	Q9NV12	TM140_HUMAN	I	20	ENSP00000275767:L20I	ENSP00000275767:L20I	L	+	1	0	TMEM140	134499791	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.428000	0.21395	0.741000	0.32674	0.563000	0.77884	CTC		0.582	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	0	NM_018295		7:134849251
CEP89	84902	broad.mit.edu	37	19	33392297	33392297	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:33392297C>G	ENST00000305768.5	-	15	1675	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	529					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCTTTCTTTCTCTTCTTCCT	0.453																																						ENST00000305768.5		NA																	0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1585-1587)gaG>gaC		centrosomal protein 89kDa							165.0	157.0	160.0					19																	33392297		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33392297C>G	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1587G>C	19.37:g.33392297C>G	ENSP00000306105:p.Glu529Asp	True	False		Somatic	0					p.E529D	NM_032816.3	NP_116205.3	WXS	Illumina HiSeq	Phase_I	Q96ST8	CEP89_HUMAN			15	1675	-			NA					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1587G>C	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746788	0.30955	.	.	ENSG00000121289	ENST00000305768	D	0.88201	-2.35	5.15	1.77	0.24775	.	0.307216	0.40818	N	0.001010	D	0.87557	0.6207	M	0.65320	2	0.80722	D	1	P	0.46912	0.886	P	0.50659	0.647	T	0.83103	-0.0127	10	0.40728	T	0.16	-13.6893	4.3698	0.11242	0.1501:0.519:0.0:0.3309	.	529	Q96ST8	CEP89_HUMAN	D	529	ENSP00000306105:E529D	ENSP00000306105:E529D	E	-	3	2	CEP89	38084137	1.000000	0.71417	0.676000	0.29932	0.217000	0.24651	0.618000	0.24373	0.622000	0.30249	-0.142000	0.14014	GAG		0.453	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	0	NM_032816		19:33392297
CYP11B1	1584	broad.mit.edu	37	8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	rs34620645	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> I (in dbSNP:rs34620645).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTTGGGGCTGGTCCAGCGAGA	0.602									Familial Hyperaldosteronism type I																													ENST00000292427.4		NA																	0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(742-744)aCc>aTc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						52.0	47.0	48.0					8																	143958154		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958154G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.743C>T	8.37:g.143958154G>A	ENSP00000292427:p.Thr248Ile	False	False		Somatic	0				CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I	p.T248I	NM_000497.3	NP_000488.3	WXS	Illumina HiSeq	Phase_I	P15538	C11B1_HUMAN			4	775	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		248		T -> I (in dbSNP:rs34620645).			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.743C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.281373	0.01398	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.66815	-0.23;-0.23;-0.23	3.64	0.81	0.18732	.	1.139050	0.06616	N	0.756477	T	0.44644	0.1303	N	0.17312	0.475	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.17979	0.006;0.013;0.02	T	0.28744	-1.0034	10	0.02654	T	1	.	7.2978	0.26403	0.3297:0.0:0.6703:0.0	rs34620645	319;248;248	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	248;248;319	ENSP00000292427:T248I;ENSP00000428043:T248I;ENSP00000366903:T319I	ENSP00000292427:T248I	T	-	2	0	CYP11B1	143955156	0.000000	0.05858	0.320000	0.25306	0.198000	0.23893	0.272000	0.18644	0.339000	0.23719	-0.226000	0.12346	ACC		0.602	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	0			8:143958154
RNF123	63891	broad.mit.edu	37	3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T	rs369371695		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCATTACCTGCGGCTCACTAT	0.607																																						ENST00000327697.6		NA																	0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1216-1218)Cgg>Tgg		ring finger protein 123		C	TRP/ARG	0,4406		0,0,2203	114.0	103.0	107.0		1216	3.4	1.0	3		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF123	NM_022064.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	406/1315	49738081	1,13005	2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49738081C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1216C>T	3.37:g.49738081C>T	ENSP00000328287:p.Arg406Trp	False	False		Somatic	0				RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	p.R406W	NM_022064.3	NP_071347.2	WXS	Illumina HiSeq	Phase_I	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	15	1360	+			406					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1216C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373157	0.82573	0.0	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76060	-0.7;-0.99	5.26	3.38	0.38709	.	0.575264	0.18160	N	0.149820	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.988	P;P	0.50231	0.635;0.513	T	0.68629	-0.5358	10	0.56958	D	0.05	-11.9117	13.28	0.60208	0.2744:0.7256:0.0:0.0	.	260;406	C9J266;Q5XPI4	.;RN123_HUMAN	W	406;406;260	ENSP00000328287:R406W;ENSP00000392443:R260W	ENSP00000328287:R406W	R	+	1	2	RNF123	49713085	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.753000	0.55180	0.541000	0.28827	0.561000	0.74099	CGG		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	NM_022064		3:49738081
DPYSL5	56896	broad.mit.edu	37	2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGATCCCTGGCGGGGCCAA	0.587																																						ENST00000288699.6		NA																	0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(136-138)Ggc>Agc		dihydropyrimidinase-like 5							99.0	84.0	89.0					2																	27121503		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121503G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.136G>A	2.37:g.27121503G>A	ENSP00000288699:p.Gly46Ser	False	False		Somatic	0				DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	WXS	Illumina HiSeq	Phase_I	Q9BPU6	DPYL5_HUMAN			2	294	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		46					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.136G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728087	0.89390	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.85258	-1.06;-1.96;-1.96;-1.06;-1.06	4.85	4.85	0.62838	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	L	0.33485	1.01	0.58432	D	0.999992	B	0.30937	0.301	B	0.28139	0.086	T	0.77253	-0.2656	10	0.37606	T	0.19	-13.6077	17.1086	0.86669	0.0:0.0:1.0:0.0	.	46	Q9BPU6	DPYL5_HUMAN	S	46	ENSP00000407174:G46S;ENSP00000288699:G46S;ENSP00000385549:G46S;ENSP00000399581:G46S;ENSP00000413075:G46S	ENSP00000288699:G46S	G	+	1	0	DPYSL5	26975007	1.000000	0.71417	0.504000	0.27639	0.986000	0.74619	9.333000	0.96459	2.403000	0.81681	0.561000	0.74099	GGC		0.587	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	0	NM_020134		2:27121503
ERCC6L2	375748	broad.mit.edu	37	9	98678110	98678110	+	Splice_Site	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:98678110T>A	ENST00000288985.7	+	5	1287	c.982T>A	c.(982-984)Tgg>Agg	p.W328R	ERCC6L2_ENST00000437817.1_Splice_Site_p.W139R|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	328	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGTTATGGACTGGTGAGAGAA	0.363																																						ENST00000288985.7		NA																	0					NA						c.(982-984)Tgg>Agg		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							72.0	68.0	69.0					9																	98678110		2203	4300	6503	SO:0001630	splice_region_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678110T>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.983+1T>A	9.37:g.98678110T>A		False	False		Somatic	0				ERCC6L2_ENST00000437817.1_Splice_Site_p.W139R|ERCC6L2_ENST00000466840.1_3'UTR	p.W328R	NM_001010895.2	NP_001010895.1	WXS	Illumina HiSeq	Phase_I	Q5T890	RAD26_HUMAN			5	1287	+			328			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Splice_Site	SNP	ENST00000288985.7	37	c.982T>A	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529846	0.85706	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.92805	-3.11;-3.11	6.06	6.06	0.98353	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.51477	D	0.000087	D	0.96756	0.8941	M	0.89840	3.065	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.72075	0.832;0.976;0.962	D	0.97414	1.0004	10	0.87932	D	0	-8.9372	16.6093	0.84858	0.0:0.0:0.0:1.0	.	139;10;328	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	R	10;328;139	ENSP00000288985:W328R;ENSP00000416286:W139R	ENSP00000288985:W328R	W	+	1	0	C9orf102	97717931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.524000	0.67105	2.324000	0.78689	0.533000	0.62120	TGG		0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	0	NM_001010895	Missense_Mutation	9:98678110
CLDN9	9080	broad.mit.edu	37	16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCTCGCCGGCATCCTGGTG	0.662																																						ENST00000445369.2		NA																	0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(385-387)gGc>gAc		claudin 9							89.0	87.0	88.0					16																	3063749		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063749G>A	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.386G>A	16.37:g.3063749G>A	ENSP00000398017:p.Gly129Asp	False	False		Somatic	0					p.G129D	NM_020982.3	NP_066192.1	WXS	Illumina HiSeq	Phase_I	O95484	CLD9_HUMAN			1	1293	+			129						Missense_Mutation	SNP	ENST00000445369.2	37	c.386G>A	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568874	0.45798	.	.	ENSG00000213937	ENST00000445369	D	0.90324	-2.65	4.85	2.9	0.33743	.	0.137049	0.47093	N	0.000253	D	0.95661	0.8589	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94689	0.7872	10	0.87932	D	0	.	8.8758	0.35345	0.1824:0.0:0.8176:0.0	.	129	O95484	CLD9_HUMAN	D	129	ENSP00000398017:G129D	ENSP00000398017:G129D	G	+	2	0	CLDN9	3003750	1.000000	0.71417	0.123000	0.21794	0.926000	0.56050	4.067000	0.57527	0.633000	0.30452	0.563000	0.77884	GGC		0.662	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	0	NM_020982		16:3063749
ZMAT1	84460	broad.mit.edu	37	X	101138639	101138639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	587						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAACTGACCTTGACTCTATC	0.378																																						ENST00000372782.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1759-1761)aAg>aGg		zinc finger, matrin-type 1							230.0	193.0	206.0					X																	101138639		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138639T>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1760A>G	X.37:g.101138639T>C	ENSP00000361868:p.Lys587Arg	False	False		Somatic	0				ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR	p.K587R	NM_001011657.3	NP_001011657	WXS	Illumina HiSeq	Phase_I	A7MD47	A7MD47_HUMAN			7	1807	-			416					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1760A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.914913	0.00503	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.48;2.48;1.9	3.75	1.02	0.19986	.	1.153020	0.06414	N	0.721174	T	0.06917	0.0176	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32534	-0.9903	10	0.06099	T	0.92	2.4748	7.3368	0.26615	0.0:0.6725:0.0:0.3275	.	587	Q5H9K5	ZMAT1_HUMAN	R	587;587;416	ENSP00000361868:K587R;ENSP00000437529:K587R;ENSP00000413044:K416R	ENSP00000361868:K587R	K	-	2	0	ZMAT1	101025295	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	0.140000	0.16056	0.077000	0.16863	-0.296000	0.09543	AAG		0.378	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	0			X:101138639
MUC16	94025	broad.mit.edu	37	19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCCATGCTTGAAG	0.468																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30304-30306)atG>atT		mucin 16, cell surface associated							112.0	109.0	110.0					19																	9057140		1955	4160	6115	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057140C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30306G>T	19.37:g.9057140C>A	ENSP00000381008:p.Met10102Ile	False	False		Somatic	0					p.M10102I	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	30509	-			10104			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30306G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.031	-0.199690	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.20200	2.09	2.6	-5.21	0.02815	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	8	0.87932	D	0	.	1.7767	0.03023	0.1437:0.3395:0.3098:0.2071	.	10102	B5ME49	.	I	10102	ENSP00000381008:M10102I	ENSP00000381008:M10102I	M	-	3	0	MUC16	8918140	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.069000	0.00619	-1.862000	0.01151	-1.436000	0.01078	ATG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9057140
P4HA1	5033	broad.mit.edu	37	10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000307116.2	-	5	531	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000412021.2_Missense_Mutation_p.D139Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(415-417)Gat>Tat		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						180.0	167.0	171.0					10																	74828652		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74828652C>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.415G>T	10.37:g.74828652C>A	ENSP00000307318:p.Asp139Tyr	False	False		Somatic	0				P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y	p.D139Y	NM_001142595.1	NP_001136067.1	WXS	Illumina HiSeq	Phase_I	P13674	P4HA1_HUMAN			6	748	-	Prostate(51;0.0198)		139					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.415G>T		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873543	0.91664	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52526	0.68;0.68;0.68;0.68;0.68;0.66	5.61	5.61	0.85477	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84676	0.0714	10	0.87932	D	0	-29.5049	19.6379	0.95744	0.0:1.0:0.0:0.0	.	139;139;139	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	139	ENSP00000307318:D139Y;ENSP00000362099:D139Y;ENSP00000411688:D139Y;ENSP00000378353:D139Y;ENSP00000263556:D139Y;ENSP00000414464:D139Y	ENSP00000263556:D139Y	D	-	1	0	P4HA1	74498658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.657000	0.90304	0.655000	0.94253	GAT		0.398	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	0	NM_000917		10:74828652
TMEM117	84216	broad.mit.edu	37	12	44782362	44782362	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCCACCTAACCTCGGAAAACT	0.453																																						ENST00000266534.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1450-1452)acC>acT		transmembrane protein 117							166.0	159.0	161.0					12																	44782362		2203	4300	6503	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782362C>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1452C>T	12.37:g.44782362C>T		False	False		Somatic	0				TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T	p.T484T	NM_032256.1	NP_115632.1	WXS	Illumina HiSeq	Phase_I	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1579	+	Lung SC(27;0.192)		484						Silent	SNP	ENST00000266534.3	37	c.1452C>T	CCDS8745.1																																																																																				0.453	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	0	NM_032256		12:44782362
MGAT5	4249	broad.mit.edu	37	2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	27					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CATTTGGGGTATGATGCTTCT	0.522																																						ENST00000409645.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(79-81)Atg>Gtg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							130.0	111.0	118.0					2																	135012053		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135012053A>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.79A>G	2.37:g.135012053A>G	ENSP00000386377:p.Met27Val	False	False		Somatic	0				MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V	p.M27V			WXS	Illumina HiSeq	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	2	331	+			27					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.79A>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435716	0.62955	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38531	1.155	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.56541	-0.7962	9	0.16420	T	0.52	-29.1494	14.9292	0.70903	1.0:0.0:0.0:0.0	.	27	Q09328	MGT5A_HUMAN	V	27	.	ENSP00000281923:M27V	M	+	1	0	MGAT5	134728523	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.087000	0.94110	2.162000	0.67917	0.528000	0.53228	ATG		0.522	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	0	NM_002410		2:135012053
STAU1	6780	broad.mit.edu	37	20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371856.2	-	7	1132	c.722C>T	c.(721-723)gCc>gTc	p.A241V	STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000371828.3_Missense_Mutation_p.A166V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468																																						ENST00000371828.3		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(496-498)gCc>gTc		staufen double-stranded RNA binding protein 1							157.0	174.0	168.0					20																	47741012		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47741012G>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.722C>T	20.37:g.47741012G>A	ENSP00000360922:p.Ala241Val	False	False		Somatic	0				STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V	p.A166V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	WXS	Illumina HiSeq	Phase_I	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		7	984	-			241					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.497C>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303436	0.95601	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	-10.9603	19.0449	0.93015	0.0:0.0:1.0:0.0	.	241;166	O95793;Q5JW29	STAU1_HUMAN;.	V	166;160;241;160;160;160;166;160;166	ENSP00000360893:A166V;ENSP00000345425:A160V;ENSP00000360922:A241V;ENSP00000353604:A160V;ENSP00000323443:A160V;ENSP00000360867:A166V;ENSP00000360857:A160V;ENSP00000416779:A166V	ENSP00000345425:A160V	A	-	2	0	STAU1	47174419	1.000000	0.71417	0.616000	0.29078	0.694000	0.40290	9.864000	0.99589	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	0	NM_017453		20:47741012
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562																																						ENST00000344204.4		NA																	0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(904-906)gCg>gTg		trio Rho guanine nucleotide exchange factor							74.0	76.0	75.0					5																	14291189		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14291189C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.905C>T	5.37:g.14291189C>T	ENSP00000339299:p.Ala302Val	False	False		Somatic	0				TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V	p.A302V	NM_007118.2	NP_009049.2	WXS	Illumina HiSeq	Phase_I	O75962	TRIO_HUMAN			5	929	+	Lung NSC(4;0.000742)		302					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.905C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671920	0.47781	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.42900	0.96;0.96;0.96	5.19	4.32	0.51571	.	0.176109	0.49305	N	0.000157	T	0.63010	0.2475	M	0.73598	2.24	0.54753	D	0.999988	D;D	0.89917	1.0;0.977	D;P	0.75020	0.985;0.532	T	0.66716	-0.5853	10	0.59425	D	0.04	.	13.6293	0.62186	0.0:0.9251:0.0:0.0749	.	253;302	F5H228;O75962	.;TRIO_HUMAN	V	302;302;253	ENSP00000339299:A302V;ENSP00000446348:A302V;ENSP00000445592:A253V	ENSP00000339299:A302V	A	+	2	0	TRIO	14344189	0.998000	0.40836	0.222000	0.23844	0.711000	0.40976	3.886000	0.56190	1.205000	0.43262	0.462000	0.41574	GCG		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	NM_007118		5:14291189
MICU3	286097	broad.mit.edu	37	8	16963051	16963051	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:16963051A>C	ENST00000318063.5	+	11	1257	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	405	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AAAATACATCAGTATTTTTAG	0.308																																						ENST00000318063.5		NA																	0					NA						c.(1213-1215)tcA>tcC		mitochondrial calcium uptake family, member 3							58.0	61.0	60.0					8																	16963051		2198	4296	6494	SO:0001819	synonymous_variant	286097							g.chr8:16963051A>C	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1215A>C	8.37:g.16963051A>C		False	False		Somatic	0				MICU3_ENST00000519866.1_3'UTR	p.S405S	NM_181723.2	NP_859074.1	WXS	Illumina HiSeq	Phase_I					11	1257	+			NA					Q8IYZ3	Silent	SNP	ENST00000318063.5	37	c.1215A>C	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	A	8.918	0.960323	0.18507	.	.	ENSG00000155970	ENST00000519044	.	.	.	4.99	-0.65	0.11457	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26292	-1.0107	4	.	.	.	-23.2572	3.7775	0.08667	0.5615:0.2499:0.0683:0.1202	.	.	.	.	P	250	.	.	Q	+	2	0	EFHA2	17007422	0.834000	0.29399	0.993000	0.49108	0.987000	0.75469	0.023000	0.13533	0.083000	0.17047	0.528000	0.53228	CAG		0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	0	NM_181723		8:16963051
RGL1	23179	broad.mit.edu	37	1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000360851.3	+	16	2136	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RGL1_ENST00000304685.4_Missense_Mutation_p.R688H|RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	653	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCATAATCCGCATCAGTGTG	0.498																																						ENST00000304685.4		NA																	0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2062-2064)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 1							123.0	117.0	119.0					1																	183885789		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885789G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1958G>A	1.37:g.183885789G>A	ENSP00000354097:p.Arg653His	False	False		Somatic	0				RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H|RGL1_ENST00000536277.1_Missense_Mutation_p.R651H	p.R688H	NM_015149.3	NP_055964.3	WXS	Illumina HiSeq	Phase_I	Q9NZL6	RGL1_HUMAN			17	2512	+			NA			Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2063G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.454279	0.96223	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.43	5.43	0.79202	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.64567	-0.6377	10	0.87932	D	0	.	18.8583	0.92262	0.0:0.0:1.0:0.0	.	624;651;653;688	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	688;688;651;653;624	ENSP00000303192:R688H;ENSP00000356501:R688H;ENSP00000438662:R651H;ENSP00000354097:R653H;ENSP00000437355:R624H	ENSP00000303192:R688H	R	+	2	0	RGL1	182152412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.401000	0.97294	2.555000	0.86185	0.650000	0.86243	CGC		0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	0	NM_015149		1:183885789
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A	rs372804569		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AAGTCTTGCCGGAGAAGGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000292823.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(1015-1017)tcC>tcT		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)	G		1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		1017	-1.6	1.0	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965646G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1017C>T	3.37:g.195965646G>A		False	False		Somatic	0				PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	p.S339S	NM_005017.2	NP_005008.2	WXS	Illumina HiSeq	Phase_I	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1189	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		339			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.1017C>T	CCDS3315.1																																																																																				0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	0	NM_005017		3:195965646
ZNF441	126068	broad.mit.edu	37	19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368																																						ENST00000357901.4		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)Aaa>Gaa		zinc finger protein 441							38.0	39.0	38.0					19																	11891903		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891903A>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1264A>G	19.37:g.11891903A>G	ENSP00000350576:p.Lys422Glu	True	False		Somatic	0				ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	p.K422E	NM_152355.2	NP_689568.2	WXS	Illumina HiSeq	Phase_I	Q8N8Z8	ZN441_HUMAN			4	1366	+			422						Missense_Mutation	SNP	ENST00000357901.4	37	c.1264A>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	15.89	2.966344	0.53507	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.08370	3.1;3.1	1.22	0.166	0.14999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.12611	0.24	0.09310	N	0.999999	B	0.28291	0.206	B	0.34418	0.182	T	0.44174	-0.9345	9	0.25751	T	0.34	.	0.0939	0.00042	0.3319:0.241:0.1882:0.239	.	422	Q8N8Z8	ZN441_HUMAN	E	378;422;355	ENSP00000350576:K422E;ENSP00000403738:K355E	ENSP00000350576:K422E	K	+	1	0	ZNF441	11752903	0.000000	0.05858	0.122000	0.21767	0.980000	0.70556	-4.770000	0.00188	-0.007000	0.14345	0.254000	0.18369	AAA		0.368	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	0	NM_152355		19:11891903
ABCA10	10349	broad.mit.edu	37	17	67211983	67211983	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353																																						ENST00000269081.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(829-831)ccT>ccC		ATP-binding cassette, sub-family A (ABC1), member 10							53.0	54.0	54.0					17																	67211983		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67211983A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.831T>C	17.37:g.67211983A>G		True	False		Somatic	0				ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	p.P277P	NM_080282.3	NP_525021.3	WXS	Illumina HiSeq	Phase_I	Q8WWZ4	ABCAA_HUMAN			9	1740	-	Breast(10;6.95e-12)		277					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.831T>C	CCDS11684.1																																																																																				0.353	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	0	NM_080282		17:67211983
C4orf17	84103	broad.mit.edu	37	4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000326581.4	+	7	1162	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000514652.1_Missense_Mutation_p.V267A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAATCAAAAGTGCTGACCAGA	0.458																																						ENST00000514652.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(799-801)gTg>gCg		chromosome 4 open reading frame 17							85.0	88.0	87.0					4																	100460491		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100460491T>C	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.800T>C	4.37:g.100460491T>C	ENSP00000322582:p.Val267Ala	False	False		Somatic	0				C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A	p.V267A			WXS	Illumina HiSeq	Phase_I	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	7	1154	+			267					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.800T>C	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329614	0.24167	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18810	2.21;2.19	5.03	-0.46	0.12175	.	0.437967	0.19567	N	0.111193	T	0.13841	0.0335	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.19666	0.026	T	0.29731	-1.0002	10	0.20519	T	0.43	-0.8055	7.9028	0.29744	0.0:0.5021:0.0:0.4979	.	267	Q53FE4	CD017_HUMAN	A	267	ENSP00000322582:V267A;ENSP00000427663:V267A	ENSP00000322582:V267A	V	+	2	0	C4orf17	100679514	0.140000	0.22579	0.068000	0.19968	0.002000	0.02628	0.035000	0.13797	0.052000	0.16007	-0.290000	0.09829	GTG		0.458	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	0	NM_032149		4:100460491
ADAM19	8728	broad.mit.edu	37	5	156915309	156915309	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000517905.1	-	21	2558	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000257527.4_Silent_p.R838R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAATTGGCCGGCTTGGAG	0.567																																						ENST00000257527.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2512-2514)cgG>cgA		ADAM metallopeptidase domain 19							92.0	98.0	96.0					5																	156915309		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915309C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2514G>A	5.37:g.156915309C>T		False	False		Somatic	0				ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000430702.2_Silent_p.R571R	p.R838R	NM_033274.3	NP_150377.1	WXS	Illumina HiSeq	Phase_I	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2592	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	838					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2514G>A		.	.	.	.	.	.	.	.	.	.	C	4.950	0.176471	0.09443	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.69	2.92	0.33932	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54077	-0.8347	4	.	.	.	.	9.7224	0.40311	0.0:0.7816:0.0:0.2184	.	.	.	.	D	409	.	.	G	-	2	0	ADAM19	156847887	0.988000	0.35896	0.998000	0.56505	0.351000	0.29236	0.032000	0.13732	0.738000	0.32606	0.491000	0.48974	GGC		0.567	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	0	NM_033274		5:156915309
RRAD	6236	broad.mit.edu	37	16	66956197	66956197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:66956197G>A	ENST00000299759.6	-	5	959	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	237					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACATTGTGGTGCAATGCCGCT	0.602																																						ENST00000299759.6		NA																	0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(709-711)Cac>Tac		Ras-related associated with diabetes							78.0	66.0	70.0					16																	66956197		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956197G>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.709C>T	16.37:g.66956197G>A	ENSP00000299759:p.His237Tyr	False	False		Somatic	0				RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y	p.H237Y			WXS	Illumina HiSeq	Phase_I	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	959	-		Ovarian(137;0.192)	237					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.709C>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142870	0.77888	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.79653	-1.29;-1.29	5.93	5.93	0.95920	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	P	0.59546	0.859	D	0.88586	0.3140	10	0.72032	D	0.01	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	237	P55042	RAD_HUMAN	Y	237	ENSP00000388744:H237Y;ENSP00000299759:H237Y	ENSP00000299759:H237Y	H	-	1	0	RRAD	65513698	1.000000	0.71417	0.998000	0.56505	0.449000	0.32228	9.471000	0.97696	2.802000	0.96397	0.561000	0.74099	CAC		0.602	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	0	NM_004165		16:66956197
KCNA3	3738	broad.mit.edu	37	1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGCTGGAAGTCGCGGCGGGGC	0.682																																						ENST00000369769.2		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(643-645)Gac>Aac		potassium voltage-gated channel, shaker-related subfamily, member 3							36.0	44.0	41.0					1																	111216789		2200	4283	6483	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216789C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.643G>A	1.37:g.111216789C>T	ENSP00000358784:p.Asp215Asn	False	False		Somatic	0					p.D215N	NM_002232.3	NP_002223.3	WXS	Illumina HiSeq	Phase_I	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	866	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	215					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.643G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180330	0.57800	.	.	ENSG00000177272	ENST00000369769	D	0.96830	-4.14	4.8	3.87	0.44632	.	0.844686	0.10366	U	0.683427	D	0.89332	0.6685	L	0.28192	0.835	0.41461	D	0.988045	P	0.34699	0.464	B	0.28849	0.095	D	0.85442	0.1155	10	0.87932	D	0	.	14.8698	0.70448	0.0:0.8552:0.1448:0.0	.	215	P22001	KCNA3_HUMAN	N	215	ENSP00000358784:D215N	ENSP00000358784:D215N	D	-	1	0	KCNA3	111018312	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.873000	0.63057	0.986000	0.38683	0.561000	0.74099	GAC		0.682	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	0	NM_002232		1:111216789
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T	rs201896139		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000409749.3	-	6	1226	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Silent_p.P380P	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542																																						ENST00000330842.6		NA																	0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(1138-1140)ccG>ccA		ankyrin repeat and SOCS box containing 18		C		0,4234		0,0,2117	59.0	73.0	68.0		1227	-6.2	0.1	2		68	3,8487		0,3,4242	yes	coding-synonymous	ASB18	NM_212556.2		0,3,6359	TT,TC,CC		0.0353,0.0,0.0236		409/467	237103689	3,12721	2117	4245	6362	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237103689C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1227G>A	2.37:g.237103689C>T		False	False		Somatic	0				AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.P409P	p.P380P			WXS	Illumina HiSeq	Phase_I	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	5	1234	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	409					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.1140G>A	CCDS46548.1																																																																																				0.542	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	0	NM_212556		2:237103689
CCDC92	80212	broad.mit.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	T	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498																																						ENST00000238156.3		NA																	0				large_intestine(5)|lung(2)	7						c.(19-21)tcG>tcA		coiled-coil domain containing 92		C		0,4406		0,0,2203	88.0	86.0	87.0		21	-1.6	0.0	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC92	NM_025140.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/332	124428832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80212							g.chr12:124428832C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.21G>A	12.37:g.124428832C>T		False	False		Somatic	0				CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR	p.S7S	NM_025140.1	NP_079416.1	WXS	Illumina HiSeq	Phase_I	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	2	375	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		7					B3KNQ0|Q9H697	Silent	SNP	ENST00000238156.3	37	c.21G>A	CCDS9256.1																																																																																				0.498	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	0	NM_025140		12:124428832
SDCCAG8	10806	broad.mit.edu	37	1	243456473	243456473	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000355875.4_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTCCCATGACAATGCAGATT	0.403																																						ENST00000366541.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(625-627)gaC>gaT		serologically defined colon cancer antigen 8							96.0	96.0	96.0					1																	243456473		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243456473C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.627C>T	1.37:g.243456473C>T		False	False		Somatic	0				SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Silent_p.D64D	p.D209D	NM_006642.3	NP_006633.1	WXS	Illumina HiSeq	Phase_I	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	6	745	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	209					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.627C>T	CCDS31075.1																																																																																				0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	0	NM_006642		1:243456473
PITPNM2	57605	broad.mit.edu	37	12	123472784	123472784	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000542749.1	-	18	3057	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000280562.5_Silent_p.L992L|PITPNM2_ENST00000320201.4_Silent_p.L998L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	998					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCTCACCCGCAGCTTCACGT	0.627																																						ENST00000280562.5		NA																	0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2974-2976)ctG>ctT		phosphatidylinositol transfer protein, membrane-associated 2							66.0	71.0	70.0					12																	123472784		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472784C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2994G>T	12.37:g.123472784C>A		False	False		Somatic	0				PITPNM2_ENST00000542749.1_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L	p.L992L			WXS	Illumina HiSeq	Phase_I	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3181	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Silent	SNP	ENST00000542749.1	37	c.2976G>T	CCDS9242.1																																																																																				0.627	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	NM_020845		12:123472784
HMCN1	83872	broad.mit.edu	37	1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGAGTATCTCAGGAAGTT	0.353																																						ENST00000271588.4		NA																	0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1099-1101)atC>atG		hemicentin 1							90.0	89.0	89.0					1																	185892601		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185892601C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1101C>G	1.37:g.185892601C>G	ENSP00000271588:p.Ile367Met	False	False		Somatic	0				HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	p.I367M	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			8	1330	+			367					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1101C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318610	0.60524	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.4	3.43	0.39272	.	0.260319	0.43579	D	0.000544	T	0.53753	0.1816	L	0.47716	1.5	0.33535	D	0.594146	P	0.43169	0.8	B	0.42462	0.388	T	0.61850	-0.6978	10	0.34782	T	0.22	.	8.7355	0.34525	0.2826:0.6415:0.0:0.0759	.	367	Q96RW7	HMCN1_HUMAN	M	367	ENSP00000271588:I367M;ENSP00000356462:I367M	ENSP00000271588:I367M	I	+	3	3	HMCN1	184159224	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.005000	0.49521	0.558000	0.29135	0.655000	0.94253	ATC		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:185892601
COL20A1	57642	broad.mit.edu	37	20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000358894.6	+	3	257	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000422202.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632																																						ENST00000422202.1		NA																	0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(157-159)Ggc>Agc		collagen, type XX, alpha 1							41.0	52.0	48.0					20																	61929336		2031	4164	6195	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61929336G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.157G>A	20.37:g.61929336G>A	ENSP00000351767:p.Gly53Ser	False	False		Somatic	0				COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S	p.G53S			WXS	Illumina HiSeq	Phase_I	Q9P218	COKA1_HUMAN			2	225	+	all_cancers(38;1.39e-10)		53			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.157G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	2.312	-0.357702	0.05138	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.95	-1.67	0.08238	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.543240	0.18383	N	0.142918	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.17137	-1.0379	10	0.21014	T	0.42	.	8.946	0.35758	0.8054:0.0:0.1946:0.0	.	53	Q9P218	COKA1_HUMAN	S	53	ENSP00000351767:G53S;ENSP00000323077:G53S;ENSP00000408690:G53S;ENSP00000414753:G53S	ENSP00000323077:G53S	G	+	1	0	COL20A1	61399781	0.000000	0.05858	0.057000	0.19452	0.005000	0.04900	0.036000	0.13819	-0.160000	0.11002	-0.229000	0.12294	GGC		0.632	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	NM_020882		20:61929336
AAMDC	28971	broad.mit.edu	37	11	77580841	77580841	+	Missense_Mutation	SNP	G	G	A	rs377312233		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:77580841G>A	ENST00000526415.1	+	4	379	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000527134.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	69	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											GTGATTGGCCGAGGGATGAGT	0.502																																						ENST00000527134.1		NA																	0					NA						c.(205-207)cGa>cAa		adipogenesis associated, Mth938 domain containing							327.0	305.0	312.0					11																	77580841		2200	4292	6492	SO:0001583	missense	28971							g.chr11:77580841G>A	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 67"""	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.206G>A	11.37:g.77580841G>A	ENSP00000431808:p.Arg69Gln	False	False		Somatic	0				AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000526415.1_Missense_Mutation_p.R69Q|RP11-91P24.6_ENST00000530972.1_RNA	p.R69Q			WXS	Illumina HiSeq	Phase_I					4	354	+			NA					Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	c.206G>A	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791614	0.90367	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.54	3.64	0.41730	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.72894	2.215	0.42845	D	0.994062	D;P;P	0.89917	1.0;0.48;0.545	D;B;B	0.69654	0.965;0.017;0.07	D	0.87118	0.2189	10	0.72032	D	0.01	-11.3001	12.3594	0.55194	0.1403:0.0:0.8597:0.0	.	69;69;69	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	Q	69;69;69;69;69;115;88	ENSP00000433293:R69Q;ENSP00000431808:R69Q;ENSP00000377078:R69Q;ENSP00000433281:R69Q;ENSP00000307254:R69Q;ENSP00000436086:R115Q;ENSP00000432830:R88Q	ENSP00000307254:R69Q	R	+	2	0	C11orf67	77258489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.454000	0.73493	1.582000	0.49881	0.650000	0.86243	CGA		0.502	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	0	NM_024684		11:77580841
SCN2A	6326	broad.mit.edu	37	2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGCAGCCGCATCTGCTGA	0.408																																						ENST00000375437.2		NA																	0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1399-1401)Gca>Aca		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						59.0	66.0	64.0					2																	166171996		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166171996G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1399G>A	2.37:g.166171996G>A	ENSP00000364586:p.Ala467Thr	False	False		Somatic	0				SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T	p.A467T	NM_001040142.1	NP_001035232.1	WXS	Illumina HiSeq	Phase_I	Q99250	SCN2A_HUMAN			11	1689	+			467					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1399G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650394	0.29336	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.95;-3.95;-3.95;-3.95	5.9	5.02	0.67125	.	0.539045	0.18025	N	0.154104	D	0.93360	0.7883	L	0.40543	1.245	0.49483	D	0.999793	B;B	0.21520	0.055;0.057	B;B	0.19666	0.026;0.013	D	0.90222	0.4272	10	0.21540	T	0.41	.	15.0639	0.71977	0.0677:0.0:0.9323:0.0	.	467;467	Q99250-2;Q99250	.;SCN2A_HUMAN	T	467	ENSP00000406454:A467T;ENSP00000364586:A467T;ENSP00000349973:A467T;ENSP00000283256:A467T;ENSP00000364576:A467T	ENSP00000283256:A467T	A	+	1	0	SCN2A	165880242	0.994000	0.37717	0.746000	0.31095	0.313000	0.28021	3.124000	0.50461	1.496000	0.48567	0.650000	0.86243	GCA		0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	NM_021007		2:166171996
KDM5B	10765	broad.mit.edu	37	1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGCAGGCCCTGTGAAATA	0.542																																						ENST00000367265.3		NA																	0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3634-3636)Ggc>Tgc		lysine (K)-specific demethylase 5B							52.0	53.0	53.0					1																	202702804		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702804C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3634G>T	1.37:g.202702804C>A	ENSP00000356234:p.Gly1212Cys	True	False		Somatic	0				KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	p.G1212C	NM_006618.3	NP_006609.3	WXS	Illumina HiSeq	Phase_I	Q9UGL1	KDM5B_HUMAN			23	4798	-			1212					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3634G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391676	0.62066	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.88046	-2.33;-2.33;-2.33	6.09	4.15	0.48705	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);	0.449783	0.28871	N	0.013866	D	0.91036	0.7180	M	0.91140	3.18	0.33999	D	0.650031	P;P	0.49696	0.927;0.814	P;P	0.49276	0.605;0.563	D	0.93343	0.6711	10	0.56958	D	0.05	-5.713	9.9016	0.41351	0.0:0.8245:0.0:0.1755	.	1248;1212	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	1212;1054;1248;1054	ENSP00000356234:G1212C;ENSP00000356233:G1248C;ENSP00000235790:G1054C	ENSP00000235790:G1054C	G	-	1	0	KDM5B	200969427	0.432000	0.25554	0.011000	0.14972	0.797000	0.45037	0.847000	0.27696	0.798000	0.33994	0.643000	0.83706	GGC		0.542	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	NM_006618		1:202702804
DYRK1A	1859	broad.mit.edu	37	21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000398960.2	+	9	1486	c.1411T>A	c.(1411-1413)Tat>Aat	p.Y471N	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Y462N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AATTCAACCTTATTATGCTCT	0.438																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.4		NA																	0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1384-1386)Tat>Aat		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							111.0	111.0	111.0					21																	38877757		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38877757T>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1411T>A	21.37:g.38877757T>A	ENSP00000381932:p.Tyr471Asn	False	False		Somatic	0				DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N	p.Y462N	NM_130436.2	NP_569120.1	WXS	Illumina HiSeq	Phase_I	Q13627	DYR1A_HUMAN			9	2854	+			NA			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1384T>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024460	0.54683	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120768	0.64402	D	0.000014	T	0.42899	0.1223	N	0.02685	-0.53	0.80722	D	1	B;B;B;B;B	0.26845	0.005;0.005;0.161;0.133;0.005	B;B;B;B;B	0.30179	0.035;0.035;0.112;0.068;0.035	T	0.49163	-0.8968	10	0.66056	D	0.02	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	471;471;471;462;471	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	471;462;471;471;471;471;243	ENSP00000342690:Y471N;ENSP00000340373:Y462N;ENSP00000319032:Y471N;ENSP00000416089:Y471N;ENSP00000381932:Y471N;ENSP00000381929:Y471N;ENSP00000407854:Y243N	ENSP00000319032:Y471N	Y	+	1	0	DYRK1A	37799627	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.977000	0.88081	2.228000	0.72767	0.528000	0.53228	TAT		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	0	NM_001396		21:38877757
WWC3	55841	broad.mit.edu	37	X	10090747	10090747	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	573					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCTAGCCAGCGACAGTGGGG	0.498																																						ENST00000380861.4		NA																	0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1717-1719)agC>agT		WWC family member 3							256.0	235.0	242.0					X																	10090747		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10090747C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1719C>T	X.37:g.10090747C>T		False	False		Somatic	0				WWC3_ENST00000454666.1_Silent_p.S573S	p.S573S	NM_015691.3	NP_056506.2	WXS	Illumina HiSeq	Phase_I	Q9ULE0	WWC3_HUMAN			12	2110	+			573					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1719C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159648	0.06544	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-3.99	0.04069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7804	15.226	0.73352	0.0:0.1046:0.0:0.8954	.	.	.	.	X	578	.	.	R	+	1	2	WWC3	10050747	0.915000	0.31059	0.002000	0.10522	0.277000	0.26821	-0.063000	0.11655	-0.854000	0.04131	-0.198000	0.12761	CGA		0.498	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	NM_015691		X:10090747
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	rs546948015		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.001	False		,,,				2504	0.0					ENST00000428286.1		NA																	0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2356-2358)gCg>gTg		prune homolog 2 (Drosophila)							121.0	111.0	114.0					9																	79323756		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323756G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val	False	False		Somatic	0				PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V	p.A786V			WXS	Illumina HiSeq	Phase_I	Q8WUY3	PRUN2_HUMAN			8	3557	-			1145					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2357C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	NM_138818		9:79323756
MKNK2	2872	broad.mit.edu	37	19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000591601.1	-	11	1111	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000250896.3_Missense_Mutation_p.A359V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A359V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GACTTGGGCGGCACTCAGCCT	0.662																																						ENST00000250896.3		NA																	2	Substitution - Missense(2)	p.A359V(2)	large_intestine(2)	breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1075-1077)gCc>gTc		MAP kinase interacting serine/threonine kinase 2							125.0	100.0	109.0					19																	2041073		2203	4300	6503	SO:0001583	missense	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041073G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1076C>T	19.37:g.2041073G>A	ENSP00000467811:p.Ala359Val	False	False		Somatic	0				MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591601.1_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V	p.A359V	NM_199054.2	NP_951009.1	WXS	Illumina HiSeq	Phase_I	Q9HBH9	MKNK2_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)	12	1320	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	359			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	c.1076C>T	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140434	0.77775	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.46063	0.88;0.88;0.88	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117336	0.56097	D	0.000022	T	0.52933	0.1765	L	0.38531	1.155	0.80722	D	1	D;D;P;P	0.71674	0.988;0.998;0.939;0.868	D;D;P;P	0.71414	0.951;0.973;0.779;0.859	T	0.55848	-0.8076	10	0.52906	T	0.07	-6.964	15.1499	0.72689	0.0:0.0:1.0:0.0	.	164;359;359;261	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	359;359;228;299	ENSP00000309485:A359V;ENSP00000250896:A359V;ENSP00000438904:A228V	ENSP00000250896:A359V	A	-	2	0	MKNK2	1992073	1.000000	0.71417	0.540000	0.28089	0.417000	0.31264	9.343000	0.97047	2.046000	0.60703	0.555000	0.69702	GCC		0.662	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	0	NM_199054		19:2041073
SCAF11	9169	broad.mit.edu	37	12	46326986	46326986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:46326986C>T	ENST00000369367.3	-	9	895	c.662G>A	c.(661-663)aGt>aAt	p.S221N	SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	221					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATCAATGCACTGATTTCACT	0.313																																						ENST00000369367.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(661-663)aGt>aAt		SR-related CTD-associated factor 11							94.0	89.0	91.0					12																	46326986		1819	4071	5890	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46326986C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.662G>A	12.37:g.46326986C>T	ENSP00000358374:p.Ser221Asn	False	False		Somatic	0				SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N	p.S221N	NM_004719.2	NP_004710.2	WXS	Illumina HiSeq	Phase_I	Q99590	SCAFB_HUMAN			9	895	-			221					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.662G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076932	0.20227	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.44083	0.93;1.52;0.93;0.93	5.95	2.7	0.31948	.	0.545330	0.14975	N	0.287606	T	0.22322	0.0538	N	0.19112	0.55	0.23896	N	0.996533	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.21827	-1.0234	10	0.12766	T	0.61	-7.7182	5.2561	0.15548	0.0:0.5262:0.1514:0.3224	.	29;221	F8VXG7;Q99590	.;SCAFB_HUMAN	N	221;29;221;161	ENSP00000358374:S221N;ENSP00000448864:S29N;ENSP00000413036:S221N;ENSP00000446746:S161N	ENSP00000358374:S221N	S	-	2	0	SCAF11	44613253	0.933000	0.31639	1.000000	0.80357	0.930000	0.56654	-0.079000	0.11357	0.836000	0.34901	0.563000	0.77884	AGT		0.313	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	0	NM_004719		12:46326986
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612																																						ENST00000264935.5		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(574-576)gCg>gTg		centrosomal protein 72kDa							132.0	133.0	133.0					5																	633946		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:633946C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val	False	False		Somatic	0				CEP72_ENST00000444221.1_Intron	p.A192V	NM_018140.3	NP_060610.2	WXS	Illumina HiSeq	Phase_I	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		5	665	+			192					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.575C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	NM_018140		5:633946
C5orf38	153571	broad.mit.edu	37	5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000334000.3	+	2	400	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|IRX2_ENST00000382611.6_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000515640.1_Missense_Mutation_p.E95K|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602																																						ENST00000515640.1		NA																	0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(283-285)Gag>Aag		chromosome 5 open reading frame 38							57.0	64.0	62.0					5																	2752818		2203	4300	6503	SO:0001583	missense	153571					extracellular region		g.chr5:2752818G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.283G>A	5.37:g.2752818G>A	ENSP00000334267:p.Glu95Lys	False	False		Somatic	0				C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K	p.E95K			WXS	Illumina HiSeq	Phase_I	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	302	+			95						Missense_Mutation	SNP	ENST00000334000.3	37	c.283G>A	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	7.522	0.656835	0.14580	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.47	-4.95	0.03048	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	8	0.87932	D	0	.	1.2249	0.01932	0.4102:0.2803:0.1664:0.143	.	95	Q86SI9	CEI_HUMAN	K	95	.	ENSP00000334267:E95K	E	+	1	0	C5orf38	2805818	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.638000	0.00866	-1.913000	0.01079	0.313000	0.20887	GAG		0.602	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	0	NM_178569		5:2752818
USH2A	7399	broad.mit.edu	37	1	215933091	215933091	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000307340.3	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000366943.2_Silent_p.Q3714Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAATTGATATTGAGAAACGA	0.428										HNSCC(13;0.011)																												ENST00000366943.2		NA																	0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11140-11142)caA>caG		Usher syndrome 2A (autosomal recessive, mild)							112.0	107.0	109.0					1																	215933091		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933091T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11142A>G	1.37:g.215933091T>C		False	False	HNSCC(13;0.011)	Somatic	0				USH2A_ENST00000307340.3_Silent_p.Q3714Q	p.Q3714Q			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11528	-			3714			Fibronectin type-III 22.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11142A>G	CCDS31025.1																																																																																				0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:215933091
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000423312.2	+	12	3641	c.3641C>T	c.(3640-3642)cCg>cTg	p.P1214L	KIF26A_ENST00000315264.7_Missense_Mutation_p.P1075L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721																																						ENST00000315264.7		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3223-3225)cCg>cTg		kinesin family member 26A							17.0	22.0	21.0					14																	104642766		1956	4126	6082	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642766C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3641C>T	14.37:g.104642766C>T	ENSP00000388241:p.Pro1214Leu	False	False		Somatic	0				KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L	p.P1075L			WXS	Illumina HiSeq	Phase_I	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3602	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1214					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3224C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580981	0.00879	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76448	-1.02;-1.02	3.6	0.264	0.15607	.	.	.	.	.	T	0.68146	0.2969	M	0.64404	1.975	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.51601	-0.8685	9	0.21540	T	0.41	.	4.6768	0.12715	0.2952:0.5102:0.0:0.1946	.	1214	Q9ULI4	KI26A_HUMAN	L	1214;1075	ENSP00000388241:P1214L;ENSP00000325452:P1075L	ENSP00000325452:P1075L	P	+	2	0	KIF26A	103712519	0.002000	0.14202	0.002000	0.10522	0.106000	0.19336	0.517000	0.22832	0.199000	0.20427	-1.026000	0.02426	CCG		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	0			14:104642766
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:84608089A>T	ENST00000344803.2	+	4	2751	c.2704A>T	c.(2704-2706)Atg>Ttg	p.M902L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	902					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.M902V(2)									CAAACAAAAGATGTTGGAAGC	0.433																																						ENST00000344803.2		NA																	2	Substitution - Missense(2)	p.M902V(2)	urinary_tract(2)		NA						c.(2704-2706)Atg>Ttg		SPATA31 subfamily D, member 1							62.0	55.0	57.0					9																	84608089		1842	4082	5924	SO:0001583	missense	389763							g.chr9:84608089A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2704A>T	9.37:g.84608089A>T	ENSP00000341988:p.Met902Leu	False	False		Somatic	0					p.M902L	NM_001001670.2	NP_001001670.1	WXS	Illumina HiSeq	Phase_I					4	2751	+			NA						Missense_Mutation	SNP	ENST00000344803.2	37	c.2704A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373764	0.24857	.	.	ENSG00000214929	ENST00000344803	T	0.50277	0.75	3.45	0.803	0.18691	.	2.229840	0.01569	N	0.020485	T	0.47192	0.1432	M	0.70275	2.135	0.09310	N	1	B	0.24882	0.113	B	0.24541	0.054	T	0.12967	-1.0527	10	0.38643	T	0.18	2.7162	3.9728	0.09460	0.5691:0.2193:0.0:0.2116	.	902	Q6ZQQ2	F75D1_HUMAN	L	902	ENSP00000341988:M902L	ENSP00000341988:M902L	M	+	1	0	FAM75D1	83797909	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.681000	0.05191	0.052000	0.16007	0.529000	0.55759	ATG		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	0	NM_001001670		9:84608089
OSBPL10	114884	broad.mit.edu	37	3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGGTGGCAGCAGAGGTAGC	0.637																																						ENST00000396556.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(847-849)gCt>gTt		oxysterol binding protein-like 10							77.0	72.0	74.0					3																	31789494		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31789494G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.848C>T	3.37:g.31789494G>A	ENSP00000379804:p.Ala283Val	False	False		Somatic	0				OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V	p.A283V	NM_017784.4	NP_060254.2	WXS	Illumina HiSeq	Phase_I	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	970	-			283					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.848C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000746	0.74818	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45276	0.9;0.9;0.9	5.61	4.74	0.60224	.	0.047989	0.85682	D	0.000000	T	0.62962	0.2471	M	0.74881	2.28	0.50171	D	0.999853	D;P;P	0.89917	1.0;0.949;0.901	D;P;P	0.87578	0.998;0.642;0.49	T	0.62320	-0.6879	10	0.30078	T	0.28	-12.5971	14.4653	0.67480	0.0704:0.0:0.9296:0.0	.	219;283;51	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	V	283;219;91	ENSP00000379804:A283V;ENSP00000406124:A219V;ENSP00000399200:A91V	ENSP00000379804:A283V	A	-	2	0	OSBPL10	31764498	1.000000	0.71417	0.295000	0.24960	0.993000	0.82548	9.459000	0.97638	1.367000	0.46095	0.549000	0.68633	GCT		0.637	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2	0			3:31789494
ONECUT2	9480	broad.mit.edu	37	18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACCCTCATGCGCGACGAGCGC	0.677																																						ENST00000491143.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(595-597)cGc>cCc		one cut homeobox 2							28.0	33.0	31.0					18																	55103544		2150	4257	6407	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103544G>C	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.596G>C	18.37:g.55103544G>C	ENSP00000419185:p.Arg199Pro	False	False		Somatic	0					p.R199P	NM_004852.2	NP_004843.2	WXS	Illumina HiSeq	Phase_I	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	628	+		Colorectal(73;0.234)	199						Missense_Mutation	SNP	ENST00000491143.2	37	c.596G>C	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796477	0.70567	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.76574	2.34	0.53688	D	0.999979	D	0.71674	0.998	D	0.79108	0.992	T	0.80984	-0.1138	9	0.56958	D	0.05	-18.0298	15.663	0.77203	0.0:0.0:1.0:0.0	.	199	O95948	ONEC2_HUMAN	P	180;199	.	ENSP00000262095:R199P	R	+	2	0	ONECUT2	53254542	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.544000	0.98092	1.990000	0.58119	0.455000	0.32223	CGC		0.677	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3	0			18:55103544
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tTc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577559
ADAMTS19	171019	broad.mit.edu	37	5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTACCAGCAGGACCTCAGCA	0.507																																						ENST00000274487.4		NA																	0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1882-1884)aGg>aAg		ADAM metallopeptidase with thrombospondin type 1 motif, 19							142.0	140.0	141.0					5																	128983486		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983486G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1883G>A	5.37:g.128983486G>A	ENSP00000274487:p.Arg628Lys	False	False		Somatic	0				CTC-575N7.1_ENST00000503616.1_RNA	p.R628K	NM_133638.3	NP_598377.3	WXS	Illumina HiSeq	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2028	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	628			Disintegrin.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1883G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000145808	ENST00000274487	T	0.62232	0.04	4.71	3.84	0.44239	.	0.133374	0.47852	N	0.000212	T	0.32645	0.0836	N	0.04245	-0.25	0.33562	D	0.59748	B	0.06786	0.001	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	.	6.0807	0.19940	0.1582:0.0:0.6875:0.1543	.	628	Q8TE59	ATS19_HUMAN	K	628	ENSP00000274487:R628K	.	R	+	2	0	ADAMTS19	129011385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.233000	0.43027	1.586000	0.49944	0.650000	0.86243	AGG		0.507	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	NM_133638		5:128983486
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532																																						ENST00000252050.4		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(1435-1437)ccG>ccA		cullin 9		G		0,4406		0,0,2203	163.0	155.0	157.0		1437	-2.6	1.0	6	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		479/2518	43155033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155033G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1437G>A	6.37:g.43155033G>A		False	False		Somatic	0				CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	p.P479P	NM_015089.2	NP_055904.1	WXS	Illumina HiSeq	Phase_I	Q8IWT3	CUL9_HUMAN			6	1521	+			479					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1437G>A	CCDS4890.1																																																																																				0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	NM_015089		6:43155033
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T	rs201221864		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCAGTATGCGGACCCCGTG	0.662																																						ENST00000356948.6		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(685-687)gCg>gTg		polypyrimidine tract binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82.0	77.0	79.0		686,686,686,	3.1	0.0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val	False	False		Somatic	0				PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	p.A229V	NM_002819.4	NP_002810.1	WXS	Illumina HiSeq	Phase_I	P26599	PTBP1_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)	7	1109	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1	0			19:804908
SHANK1	50944	broad.mit.edu	37	19	51219616	51219616	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:51219616G>A	ENST00000293441.1	-	2	393	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SHANK1_ENST00000391814.1_Silent_p.S125S|SHANK1_ENST00000359082.3_Silent_p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	125					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CATCGCGGCCGGAGGTGGCCG	0.637																																						ENST00000293441.1		NA																	0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(373-375)tcC>tcT		SH3 and multiple ankyrin repeat domains 1							49.0	52.0	51.0					19																	51219616		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219616G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.375C>T	19.37:g.51219616G>A		False	False		Somatic	0				SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S	p.S125S	NM_016148.2	NP_057232.2	WXS	Illumina HiSeq	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	393	-		all_neural(266;0.057)	125					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.375C>T	CCDS12799.1																																																																																				0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	0	NM_016148		19:51219616
SMG8	55181	broad.mit.edu	37	17	57288528	57288528	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:57288528C>A	ENST00000543872.2	+	2	1380	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.P372P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCCTGCACCCCTTTCTGGGC	0.542																																						ENST00000543872.2		NA																	0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1114-1116)ccC>ccA		SMG8 nonsense mediated mRNA decay factor							89.0	77.0	81.0					17																	57288528		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288528C>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1116C>A	17.37:g.57288528C>A		True	False		Somatic	0				CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.P372P	p.P372P			WXS	Illumina HiSeq	Phase_I	Q8ND04	SMG8_HUMAN			2	1380	+			372					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1116C>A	CCDS11615.1																																																																																				0.542	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	0	NM_018149		17:57288528
MUC16	94025	broad.mit.edu	37	19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T	rs576260781		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGTGGGTTGTGCCCTGGCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19156	0.0		0.001	False		,,,				2504	0.0					ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1867-1869)aCa>aAa		mucin 16, cell surface associated							93.0	97.0	96.0					19																	9089947		2196	4294	6490	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089947G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1868C>A	19.37:g.9089947G>T	ENSP00000381008:p.Thr623Lys	False	False		Somatic	0					p.T623K	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	2071	-			623			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1868C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.239	-0.155665	0.06544	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.68	-0.919	0.10478	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15870	0.014	T	0.46247	-0.9205	8	0.87932	D	0	.	2.1688	0.03844	0.2075:0.0:0.4212:0.3713	.	623	B5ME49	.	K	623	ENSP00000381008:T623K	ENSP00000381008:T623K	T	-	2	0	MUC16	8950947	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.135000	0.10420	-0.188000	0.10499	0.205000	0.17691	ACA		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9089947
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000322238.8_Silent_p.C521C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						ENST00000502935.1		NA																	4	Substitution - coding silent(4)	p.C502C(2)|p.C545C(2)	lung(4)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1633-1635)tgC>tgT		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A		False	False		Somatic	0				XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C	p.C545C			WXS	Illumina HiSeq	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1754	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1635C>T	CCDS7560.2																																																																																				0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2	0			10:111630550
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493																																						ENST00000561311.1		NA																	1	Substitution - Missense(1)	p.S1323Y(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3967-3969)tCt>tTt		talin 2							84.0	75.0	78.0					15																	63032911		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63032911C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3968C>T	15.37:g.63032911C>T	ENSP00000453508:p.Ser1323Phe	True	False		Somatic	0				TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F	p.S1323F			WXS	Illumina HiSeq	Phase_I	Q9Y4G6	TLN2_HUMAN			31	4198	+			1323					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3968C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126628	0.56721	.	.	ENSG00000171914	ENST00000306829	T	0.14893	2.47	5.87	5.87	0.94306	.	0.094038	0.85682	D	0.000000	T	0.20820	0.0501	L	0.49126	1.545	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.04281	-1.0963	10	0.23302	T	0.38	-13.3132	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1323	Q9Y4G6	TLN2_HUMAN	F	1323	ENSP00000303476:S1323F	ENSP00000303476:S1323F	S	+	2	0	TLN2	60820203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCT		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0			15:63032911
MED15	51586	broad.mit.edu	37	22	20929453	20929453	+	Silent	SNP	G	G	A	rs201830458		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	402	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCCGGTTCCCGCCTACCACCG	0.597																																						ENST00000263205.7		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1204-1206)ccG>ccA		mediator complex subunit 15							115.0	100.0	105.0					22																	20929453		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929453G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1206G>A	22.37:g.20929453G>A		True	False		Somatic	0				MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron	p.P402P	NM_001003891.1	NP_001003891.1	WXS	Illumina HiSeq	Phase_I	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1275	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	402			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.1206G>A	CCDS33602.1																																																																																				0.597	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	0	NM_015889		22:20929453
PTCHD1	139411	broad.mit.edu	37	X	23410819	23410819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483																																						ENST00000379361.4		NA																	0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1183-1185)aAc>aGc		patched domain containing 1							127.0	108.0	114.0					X																	23410819		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23410819A>G	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1184A>G	X.37:g.23410819A>G	ENSP00000368666:p.Asn395Ser	False	False		Somatic	0					p.N395S	NM_173495.2	NP_775766.2	WXS	Illumina HiSeq	Phase_I	Q96NR3	PTHD1_HUMAN			3	2044	+			395			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1184A>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340499	0.24339	.	.	ENSG00000165186	ENST00000379361	D	0.85088	-1.94	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	L	0.31752	0.955	0.50632	D	0.999886	B	0.11235	0.004	B	0.31290	0.127	T	0.68981	-0.5266	10	0.05436	T	0.98	.	14.5355	0.67958	1.0:0.0:0.0:0.0	.	395	Q96NR3	PTHD1_HUMAN	S	395	ENSP00000368666:N395S	ENSP00000368666:N395S	N	+	2	0	PTCHD1	23320740	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.910000	0.92685	1.881000	0.54492	0.486000	0.48141	AAC		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	0	NM_173495		X:23410819
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2		NA																FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102.0	109.0	107.0					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp	True	False		Somatic	0				RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	WXS	Illumina HiSeq	Phase_I	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	0	NM_207111		7:5662580
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T	rs549023811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488																																						ENST00000350763.4		NA																	0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6085-6087)cGc>cAc		tenascin C							167.0	150.0	156.0					9																	117791722		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791722C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6086G>A	9.37:g.117791722C>T	ENSP00000265131:p.Arg2029His	False	False		Somatic	0				TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H	p.R2029H	NM_002160.3	NP_002151.2	WXS	Illumina HiSeq	Phase_I	P24821	TENA_HUMAN			25	6497	-			2029			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6086G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217894	0.95104	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.98936	4.375	0.44275	D	0.99713	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97749	1.0213	10	0.87932	D	0	.	19.3449	0.94359	0.0:1.0:0.0:0.0	.	1756;2029	E9PC84;P24821	.;TENA_HUMAN	H	1665;1574;1483;1392;2029;1847;1756;1392;1666	ENSP00000344400:R1665H;ENSP00000438152:R1574H;ENSP00000344555:R1483H;ENSP00000345861:R1392H;ENSP00000265131:R2029H;ENSP00000339553:R1847H;ENSP00000411406:R1756H;ENSP00000443478:R1392H;ENSP00000442242:R1666H	ENSP00000344400:R1665H	R	-	2	0	TNC	116831543	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.363000	0.79516	2.587000	0.87381	0.655000	0.94253	CGC		0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	NM_002160		9:117791722
OR2T3	343173	broad.mit.edu	37	1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTCCTGCCCTGCTGAAGCT	0.512																																						ENST00000359594.2		NA																	0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(565-567)Ctg>Atg		olfactory receptor, family 2, subfamily T, member 3							106.0	91.0	96.0					1																	248637216		2168	4270	6438	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637216C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.565C>A	1.37:g.248637216C>A	ENSP00000352604:p.Leu189Met	True	False		Somatic	0					p.L189M	NM_001005495.1	NP_001005495.1	WXS	Illumina HiSeq	Phase_I	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	590	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		189					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.565C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	7.761	0.705426	0.15172	.	.	ENSG00000196539	ENST00000359594	T	0.00224	8.51	2.37	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.58354	1.805	0.09310	N	1	P	0.46142	0.873	B	0.43360	0.417	T	0.14868	-1.0457	9	0.24483	T	0.36	.	6.2171	0.20661	0.0:0.3597:0.2818:0.3585	.	189	Q8NH03	OR2T3_HUMAN	M	189	ENSP00000352604:L189M	ENSP00000352604:L189M	L	+	1	2	OR2T3	246703839	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-4.147000	0.00285	-1.359000	0.02174	0.186000	0.17326	CTG		0.512	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	0	NM_001005495		1:248637216
POMC	5443	broad.mit.edu	37	2	25387630	25387630	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCAGCACGATCTCGGCA	0.607																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(10-12)tcG>tcA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						37.0	40.0	39.0					2																	25387630		2201	4299	6500	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387630C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.12G>A	2.37:g.25387630C>T		False	False		Somatic	0				POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S	p.S4S			WXS	Illumina HiSeq	Phase_I	P01189	COLI_HUMAN			2	467	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.12G>A	CCDS1717.1																																																																																				0.607	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	0	NM_001035256		2:25387630
GOLGA3	2802	broad.mit.edu	37	12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000450791.2	-	12	2747	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.Y855S			Q08378	GOGA3_HUMAN	golgin A3	855					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCGCCGGTAGGCCTCCAC	0.637																																						ENST00000204726.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2563-2565)tAc>tCc		golgin A3							28.0	25.0	26.0					12																	133365860		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133365860T>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2564A>C	12.37:g.133365860T>G	ENSP00000410378:p.Tyr855Ser	False	False		Somatic	0				GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S	p.Y855S	NM_005895.3	NP_005886.2	WXS	Illumina HiSeq	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	13	3122	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	855					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2564A>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636969	0.87760	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.37058	1.68;1.68;1.69;1.22;1.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57957	-0.7721	10	0.29301	T	0.29	.	15.4572	0.75325	0.0:0.0:0.0:1.0	.	855;855;855	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	855	ENSP00000204726:Y855S;ENSP00000410378:Y855S;ENSP00000409303:Y855S;ENSP00000442143:Y855S;ENSP00000442603:Y855S	ENSP00000204726:Y855S	Y	-	2	0	GOLGA3	131875933	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	7.959000	0.87885	2.064000	0.61679	0.460000	0.39030	TAC		0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	0	NM_005895		12:133365860
SLC19A1	6573	broad.mit.edu	37	21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AGGAAGAGGGCGAGGACCACG	0.647																																						ENST00000311124.4		NA																	0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(598-600)Gcc>Acc		solute carrier family 19 (folate transporter), member 1							57.0	48.0	51.0					21																	46951654		2200	4299	6499	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951654C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.598G>A	21.37:g.46951654C>T	ENSP00000308895:p.Ala200Thr	True	False		Somatic	0				SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T	p.A200T	NM_194255.2	NP_919231.1	WXS	Illumina HiSeq	Phase_I	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	750	-			200					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.598G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510194	0.44660	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	T;T;T	0.81330	-1.48;-1.48;-1.48	4.62	-5.28	0.02755	Major facilitator superfamily domain, general substrate transporter (1);	0.404697	0.27544	N	0.018889	T	0.60830	0.2299	L	0.35288	1.05	0.25111	N	0.990718	P;P;B;P	0.35481	0.504;0.504;0.262;0.504	B;B;B;B	0.33960	0.173;0.058;0.019;0.032	T	0.55029	-0.8204	10	0.33940	T	0.23	-15.7351	5.7407	0.18092	0.2584:0.1321:0.0:0.6095	.	160;222;200;200	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	200;200;160	ENSP00000308895:A200T;ENSP00000369347:A200T;ENSP00000441772:A160T	ENSP00000308895:A200T	A	-	1	0	SLC19A1	45776082	0.012000	0.17670	0.172000	0.22920	0.879000	0.50718	-0.237000	0.08990	-0.965000	0.03591	0.306000	0.20318	GCC		0.647	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1	0			21:46951654
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A	rs373597275		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532																																						ENST00000346193.3		NA																	2	Substitution - coding silent(2)	p.D74D(2)	lung(1)|kidney(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(220-222)gaC>gaT		family with sequence similarity 47, member A							91.0	86.0	88.0					X																	34150174		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150174G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.222C>T	X.37:g.34150174G>A		False	False		Somatic	0					p.D74D	NM_203408.3	NP_981953.2	WXS	Illumina HiSeq	Phase_I	Q5JRC9	FA47A_HUMAN			1	273	-			74					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.222C>T	CCDS43926.1																																																																																				0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	0	NM_203408		X:34150174
DDIAS	220042	broad.mit.edu	37	11	82645017	82645017	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		879					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATATGCTTGGATTCCAAGGCA	0.408																																						ENST00000533655.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2635-2637)ggA>ggC		chromosome 11 open reading frame 82							72.0	71.0	71.0					11																	82645017		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645017A>C																												ENST00000533655.1:c.2637A>C	11.37:g.82645017A>C		False	False		Somatic	0				C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G	p.G879G	NM_145018.3	NP_659455.3	WXS	Illumina HiSeq	Phase_I	Q8IXT1	NOXIN_HUMAN			6	2849	+			879					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.2637A>C	CCDS8263.1																																																																																				0.408	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1	0			11:82645017
HIST1H2AC	8334	broad.mit.edu	37	6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAACATCCAGGCCGTGCTTCT	0.582																																						ENST00000602637.1		NA																	0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(340-342)Gcc>Tcc		histone cluster 1, H2ac							85.0	85.0	85.0					6																	26124800		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124800G>T	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.340G>T	6.37:g.26124800G>T	ENSP00000473534:p.Ala114Ser	False	False		Somatic	0				HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S	p.A114S			WXS	Illumina HiSeq	Phase_I	Q93077	H2A1C_HUMAN			1	370	+			114					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.340G>T	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.385900	0.42308	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.40756	1.02;1.02	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (2);	0.000000	0.44285	D	0.000478	T	0.20047	0.0482	L	0.31845	0.965	0.41553	D	0.988589	B	0.10296	0.003	B	0.12156	0.007	T	0.02728	-1.1118	10	0.37606	T	0.19	.	13.6874	0.62524	0.0:0.0:0.8458:0.1542	.	114	Q93077	H2A1C_HUMAN	S	114	ENSP00000367022:A114S;ENSP00000321389:A114S	ENSP00000321389:A114S	A	+	1	0	HIST1H2AC	26232779	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.712000	0.84684	2.750000	0.94351	0.467000	0.42956	GCC		0.582	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	0	NM_003512		6:26124800
MCF2L2	23101	broad.mit.edu	37	3	183027561	183027561	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000447025.2_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGCATCACGCTGTCTCCAA	0.448																																						ENST00000328913.3		NA																	0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1054-1056)agC>agT		MCF.2 cell line derived transforming sequence-like 2							140.0	129.0	133.0					3																	183027561		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183027561G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1056C>T	3.37:g.183027561G>A		False	False		Somatic	0				MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	p.S352S	NM_015078.2	NP_055893	WXS	Illumina HiSeq	Phase_I	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		10	1353	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		352					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.1056C>T	CCDS3243.1																																																																																				0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	NM_015078		3:183027561
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000603338.2_Silent_p.H617H|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517																																						ENST00000371497.5		NA																	0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1858-1860)caC>caT		teashirt zinc finger homeobox 2							78.0	81.0	80.0					20																	51871857		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871857C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>T	20.37:g.51871857C>T		False	False		Somatic	0				TSHZ2_ENST00000329613.6_Silent_p.H617H|TSHZ2_ENST00000603338.2_Silent_p.H617H	p.H620H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina HiSeq	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2747	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1860C>T	CCDS33490.1																																																																																				0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	0	NM_173485		20:51871857
ZGPAT	84619	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000490623.2		NA																	0					NA						c.(505-507)Acg>Gcg									135.0	130.0	132.0					20																	62365008		2203	4300	6503	SO:0001583	missense	0							g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly	True	False		Somatic	0				ZGPAT_ENST00000328969.5_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G	p.T169A			WXS	Illumina HiSeq	Phase_I					3	505	+			NA					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.505A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	0	NM_181484		20:62365008
PCDHA1	56147	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000394633.3_Silent_p.N238N|PCDHA1_ENST00000378133.3_Silent_p.N238N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488																																						ENST00000504120.2		NA																	0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(712-714)aaC>aaT									98.0	96.0	96.0					5																	140166589		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140166589C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.714C>T	5.37:g.140166589C>T		False	False		Somatic	0				PCDHA1_ENST00000394633.3_Silent_p.N238N|PCDHA1_ENST00000378133.3_Silent_p.N238N	p.N238N	NM_018900.2	NP_061723.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	714	+			NA					O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.714C>T	CCDS54913.1																																																																																				0.488	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	0	NM_018900		5:140166589
CREBRF	153222	broad.mit.edu	37	5	172518124	172518124	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:172518124A>G	ENST00000296953.2	+	4	1261	c.942A>G	c.(940-942)ggA>ggG	p.G314G	CREBRF_ENST00000540014.1_Silent_p.G314G|CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000520420.1_Silent_p.G314G	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	314					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTGCAGCAGGAGAGAGCAGCA	0.478																																						ENST00000540014.1		NA																	0					NA						c.(940-942)ggA>ggG		CREB3 regulatory factor							74.0	74.0	74.0					5																	172518124		2203	4300	6503	SO:0001819	synonymous_variant	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172518124A>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.942A>G	5.37:g.172518124A>G		True	False		Somatic	0				CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000520420.1_Silent_p.G314G|CREBRF_ENST00000296953.2_Silent_p.G314G	p.G314G			WXS	Illumina HiSeq	Phase_I	Q8IUR6	CE041_HUMAN			4	1261	+			314					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	ENST00000296953.2	37	c.942A>G	CCDS34293.1																																																																																				0.478	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	0	NM_153607		5:172518124
EBNA1BP2	10969	broad.mit.edu	37	1	43636461	43636461	+	Missense_Mutation	SNP	G	G	A	rs202089047	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:43636461G>A	ENST00000236051.2	-	4	554	c.413C>T	c.(412-414)gCg>gTg	p.A138V	EBNA1BP2_ENST00000472982.1_5'Flank|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A193V	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	138					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATTTCCGCAAAATAATC	0.473													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20448	0.0		0.0	False		,,,				2504	0.001					ENST00000431635.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(577-579)gCg>gTg		EBNA1 binding protein 2							164.0	162.0	162.0					1																	43636461		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636461G>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.413C>T	1.37:g.43636461G>A	ENSP00000236051:p.Ala138Val	False	False		Somatic	0				EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A138V	p.A193V	NM_001159936.1	NP_001153408.1	WXS	Illumina HiSeq	Phase_I	Q99848	EBP2_HUMAN			5	726	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	138					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.578C>T	CCDS478.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.636393	0.96693	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.73575	-0.76;-0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92638	0.6122	10	0.87932	D	0	-12.5207	19.6961	0.96026	0.0:0.0:1.0:0.0	.	138;138	Q6IB29;Q99848	.;EBP2_HUMAN	V	193;138	ENSP00000407323:A193V;ENSP00000236051:A138V	ENSP00000236051:A138V	A	-	2	0	EBNA1BP2	43409048	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.271000	0.95698	2.745000	0.94114	0.650000	0.86243	GCG		0.473	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1	0			1:43636461
TACC2	10579	broad.mit.edu	37	10	123843041	123843041	+	Silent	SNP	G	G	A	rs201912981	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000515273.1_Silent_p.P342P|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	342					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATATCTGCCGCACGCAGAGC	0.632													g|||	2	0.000399361	0.0	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.002					ENST00000369005.1		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1024-1026)ccG>ccA		transforming, acidic coiled-coil containing protein 2							31.0	37.0	35.0					10																	123843041		2199	4297	6496	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843041G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1026G>A	10.37:g.123843041G>A		True	False		Somatic	0				TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000515273.1_Silent_p.P342P	p.P342P	NM_206862.2	NP_996744.2	WXS	Illumina HiSeq	Phase_I	O95359	TACC2_HUMAN			4	1366	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	342					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1026G>A	CCDS7626.1																																																																																				0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0			10:123843041
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652																																						ENST00000382500.2		NA																	0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(361-363)ccG>ccA		forkhead box D4							70.0	102.0	92.0					9																	117757		2179	4281	6460	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117757C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.363G>A	9.37:g.117757C>T		True	False		Somatic	0					p.P121P	NM_207305.4	NP_997188.2	WXS	Illumina HiSeq	Phase_I	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	660	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	121					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.363G>A	CCDS34975.1																																																																																				0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	0	NM_207305		9:117757
TAF4	6874	broad.mit.edu	37	20	60551330	60551330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:60551330G>A	ENST00000252996.4	-	15	3151	c.3152C>T	c.(3151-3153)aCg>aTg	p.T1051M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1051					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTTTGTCGCGTGAACTGTCT	0.537																																						ENST00000252996.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(3151-3153)aCg>aTg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							103.0	111.0	108.0					20																	60551330		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60551330G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3152C>T	20.37:g.60551330G>A	ENSP00000252996:p.Thr1051Met	False	False		Somatic	0					p.T1051M	NM_003185.3	NP_003176.2	WXS	Illumina HiSeq	Phase_I	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		15	3151	-	Breast(26;1e-08)		NA					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.3152C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689456	0.29962	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.24723	1.84;1.84	5.35	5.35	0.76521	Transcription initiation factor TFIID component TAF4 (1);	0.150930	0.64402	D	0.000020	T	0.26268	0.0641	L	0.38175	1.15	0.54753	D	0.999984	D	0.53745	0.962	B	0.43360	0.417	T	0.01390	-1.1367	10	0.36615	T	0.2	-7.1837	19.0436	0.93011	0.0:0.0:1.0:0.0	.	1051	O00268	TAF4_HUMAN	M	1051;915	ENSP00000252996:T1051M;ENSP00000399091:T915M	ENSP00000252996:T1051M	T	-	2	0	TAF4	59984725	1.000000	0.71417	0.970000	0.41538	0.116000	0.19942	5.155000	0.64900	2.496000	0.84212	0.655000	0.94253	ACG		0.537	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	0	NM_003185		20:60551330
BNIP3L	665	broad.mit.edu	37	8	26237686	26237686	+	5'Flank	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:26237686T>C	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		ATCATTACATTATTATCCTTG	0.438																																						ENST00000519902.1		NA																	0					NA																																												SO:0001631	upstream_gene_variant	0							g.chr8:26237686T>C	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237686T>C	Exception_encountered	True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2262	-			NA					B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.438	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	0	NM_004331		8:26237686
TG	7038	broad.mit.edu	37	8	133883773	133883773	+	Missense_Mutation	SNP	G	G	A	rs114781869		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:133883773G>A	ENST00000220616.4	+	4	495	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TG_ENST00000377869.1_Missense_Mutation_p.R152H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	152	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGGGACCCGCCAGCTGGGG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17429	0.0		0.001	False		,,,				2504	0.0					ENST00000220616.4		NA																	0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(454-456)cGc>cAc		thyroglobulin		G	HIS/ARG	0,4406		0,0,2203	96.0	71.0	79.0		455	5.6	1.0	8	dbSNP_132	79	7,8593	5.0+/-18.6	0,7,4293	yes	missense	TG	NM_003235.4	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	152/2769	133883773	7,12999	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883773G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.455G>A	8.37:g.133883773G>A	ENSP00000220616:p.Arg152His	True	False		Somatic	0				TG_ENST00000377869.1_Missense_Mutation_p.R152H	p.R152H	NM_003235.4	NP_003226.4	WXS	Illumina HiSeq	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	495	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	152			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.455G>A	CCDS34944.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.9	4.586360	0.86851	0.0	8.14E-4	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.68479	-0.33;-0.33	5.58	5.58	0.84498	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000010	D	0.84275	0.5436	M	0.87381	2.88	0.44142	D	0.996932	D	0.89917	1.0	D	0.85130	0.997	D	0.86737	0.1952	10	0.87932	D	0	.	16.7298	0.85432	0.0:0.0:1.0:0.0	.	152	P01266	THYG_HUMAN	H	152	ENSP00000367100:R152H;ENSP00000220616:R152H	ENSP00000220616:R152H	R	+	2	0	TG	133952955	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	8.942000	0.92970	2.630000	0.89119	0.460000	0.39030	CGC		0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	0	NM_003235		8:133883773
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3		NA																	5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	False	False		Somatic	0					p.T537A	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112608394
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572																																						ENST00000574733.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(451-453)Cgg>Tgg		NmrA-like family domain containing 1							95.0	89.0	91.0					16																	4516232		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516232G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp	False	False		Somatic	0				NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W	p.R151W			WXS	Illumina HiSeq	Phase_I	Q9HBL8	NMRL1_HUMAN			4	1180	-			151						Missense_Mutation	SNP	ENST00000574733.1	37	c.451C>T	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG		0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	0	NM_020677		16:4516232
NINL	22981	broad.mit.edu	37	20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	583					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGCTGTGCCGGTTCTTGGGC	0.692																																						ENST00000278886.6		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1747-1749)Cgg>Tgg		ninein-like							42.0	48.0	46.0					20																	25462667		2202	4300	6502	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25462667G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1747C>T	20.37:g.25462667G>A	ENSP00000278886:p.Arg583Trp	False	False		Somatic	0				NINL_ENST00000422516.1_Missense_Mutation_p.R583W	p.R583W	NM_025176.4	NP_079452.3	WXS	Illumina HiSeq	Phase_I	Q9Y2I6	NINL_HUMAN			14	1820	-			583					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1747C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083873	0.36758	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34859	1.58;1.34	4.73	-5.11	0.02901	.	2.414770	0.01809	N	0.033350	T	0.27765	0.0683	L	0.46741	1.465	0.09310	N	1	B;B	0.26147	0.143;0.001	B;B	0.15484	0.013;0.0	T	0.25433	-1.0132	10	0.51188	T	0.08	-6.8188	5.0826	0.14664	0.3951:0.0:0.3319:0.273	.	583;583	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	583	ENSP00000278886:R583W;ENSP00000410431:R583W	ENSP00000278886:R583W	R	-	1	2	NINL	25410667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.540000	0.06106	-0.682000	0.05197	0.555000	0.69702	CGG		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	0	NM_025176		20:25462667
GRM1	2911	broad.mit.edu	37	6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000282753.1	+	8	3308	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1025A|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAACCCCCTCCACAGCAGAA	0.662																																						ENST00000361719.2		NA																	0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3073-3075)Cca>Gca		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						50.0	58.0	55.0					6																	146755420		2202	4299	6501	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755420C>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3073C>G	6.37:g.146755420C>G	ENSP00000282753:p.Pro1025Ala	False	False		Somatic	0				GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.P1025A	NM_001278064.1	NP_001264993.1	WXS	Illumina HiSeq	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3543	+		Ovarian(120;0.0387)	1025			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3073C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	5.758	0.324185	0.10900	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	2.79	0.452	0.16634	.	1.033610	0.07658	N	0.933160	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43861	-0.9365	10	0.05833	T	0.94	.	3.4837	0.07611	0.0:0.5533:0.2518:0.1949	.	1025	Q13255	GRM1_HUMAN	A	1025	ENSP00000354896:P1025A;ENSP00000282753:P1025A	ENSP00000282753:P1025A	P	+	1	0	GRM1	146797113	0.010000	0.17322	0.052000	0.19188	0.885000	0.51271	2.510000	0.45468	0.066000	0.16515	0.306000	0.20318	CCA		0.662	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	0	NM_000838		6:146755420
IL21R	50615	broad.mit.edu	37	16	27448836	27448836	+	Silent	SNP	C	C	T	rs370550834		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597			T	BCL6	NHL																																	ENST00000337929.3		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(178-180)gaC>gaT		interleukin 21 receptor		C	,,	1,4393	2.1+/-5.4	0,1,2196	100.0	79.0	86.0		180,180,246	-9.3	0.0	16		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,	60/539,60/539,82/561	27448836	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27448836C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.180C>T	16.37:g.27448836C>T		False	False		Somatic	0				IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	p.D60D	NM_181078.2	NP_851564.1	WXS	Illumina HiSeq	Phase_I	Q9HBE5	IL21R_HUMAN			4	653	+			60					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.180C>T	CCDS10630.1																																																																																				0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	0	NM_181078		16:27448836
PPIP5K1	9677	broad.mit.edu	37	15	43827457	43827457	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000396923.3	-	30	3838	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000420765.1_Silent_p.S1239S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						GCACCTGTGGGGACTGATTTG	0.562																																						ENST00000420765.1		NA																	0				large_intestine(1)	1						c.(3715-3717)tcC>tcT		diphosphoinositol pentakisphosphate kinase 1							91.0	90.0	91.0					15																	43827457		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827457G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3717C>T	15.37:g.43827457G>A		True	False		Somatic	0				PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S	p.S1239S	NM_001130858.2	NP_001124330.1	WXS	Illumina HiSeq	Phase_I	Q6PFW1	VIP1_HUMAN			31	3899	-			1239					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.3717C>T	CCDS45252.1																																																																																				0.562	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	0	NM_014659		15:43827457
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000493901.1	-	15	2102	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000374040.3_Silent_p.T613T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716																																						ENST00000374040.3		NA																	0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1837-1839)acG>acA		mitogen-activated protein kinase kinase kinase 6							11.0	15.0	14.0					1																	27687469		2121	4247	6368	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687469C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1863G>A	1.37:g.27687469C>T		False	False		Somatic	0				MAP3K6_ENST00000493901.1_Silent_p.T621T|MAP3K6_ENST00000357582.2_Silent_p.T621T	p.T613T			WXS	Illumina HiSeq	Phase_I	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	13	2099	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	621					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1839G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407554	0.25378	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.2	-0.331	0.12679	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	1.4977	0.02470	0.1414:0.4258:0.1589:0.2739	.	.	.	.	Q	345	.	.	R	-	2	0	MAP3K6	27560056	0.002000	0.14202	0.955000	0.39395	0.932000	0.56968	-1.018000	0.03626	0.198000	0.20407	0.655000	0.94253	CGA		0.716	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	0	NM_004672		1:27687469
CELSR3	1951	broad.mit.edu	37	3	48691126	48691126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:48691126C>T	ENST00000164024.4	-	9	5654	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1792T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1792	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGAAATGCCAGCCCCAGG	0.602																																						ENST00000544264.1		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5374-5376)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 3							109.0	109.0	109.0					3																	48691126		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48691126C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5374G>A	3.37:g.48691126C>T	ENSP00000164024:p.Ala1792Thr	False	False		Somatic	0				CELSR3_ENST00000164024.4_Missense_Mutation_p.A1792T	p.A1792T			WXS	Illumina HiSeq	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	5654	-			1792			Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5374G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848196	0.32699	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.78924	-1.22;-1.22	4.88	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.66982	0.2845	L	0.38531	1.155	0.44373	D	0.997272	B;B	0.27853	0.009;0.191	B;B	0.26770	0.027;0.073	T	0.60687	-0.7214	9	0.14252	T	0.57	.	14.1889	0.65625	0.1554:0.8446:0.0:0.0	.	1792;1862	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1792	ENSP00000164024:A1792T;ENSP00000445694:A1792T	ENSP00000164024:A1792T	A	-	1	0	CELSR3	48666130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.957000	0.49137	1.216000	0.43427	0.655000	0.94253	GCA		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	0	NM_001407		3:48691126
RRS1	23212	broad.mit.edu	37	8	67341954	67341954	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	196					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGCCCGCGCGCACAAGATGC	0.652																																						ENST00000320270.2		NA																	0				kidney(2)|lung(2)	4						c.(586-588)gcG>gcA		RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)							19.0	22.0	21.0					8																	67341954		2176	4264	6440	SO:0001819	synonymous_variant	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67341954G>A	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.588G>A	8.37:g.67341954G>A		True	False		Somatic	0					p.A196A	NM_015169.3	NP_055984.1	WXS	Illumina HiSeq	Phase_I	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	692	+		Lung NSC(129;0.197)	196					Q9BUX8	Silent	SNP	ENST00000320270.2	37	c.588G>A	CCDS6189.1																																																																																				0.652	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	0	NM_015169		8:67341954
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	rs575911571		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4		NA																	0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353.0	352.0	353.0					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val	False	False		Somatic	0				PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			WXS	Illumina HiSeq	Phase_I	O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	0	NM_004697		9:116049072
BRD4	23476	broad.mit.edu	37	19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A	rs368540009		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3565-3567)gCg>gTg		bromodomain containing 4			VAL/ALA	0,4406		0,0,2203	74.0	76.0	75.0		3566	4.7	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRD4	NM_058243.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1189/1363	15350213	1,13005	2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350213G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3566C>T	19.37:g.15350213G>A	ENSP00000263377:p.Ala1189Val	False	False		Somatic	0					p.A1189V	NM_058243.2	NP_490597.1	WXS	Illumina HiSeq	Phase_I	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		17	3787	-			1189					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3566C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.617877	0.28801	0.0	1.16E-4	ENSG00000141867	ENST00000263377	T	0.17370	2.28	4.68	4.68	0.58851	.	0.000000	0.52532	D	0.000067	T	0.35307	0.0927	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05241	-1.0897	10	0.48119	T	0.1	-6.9197	16.3985	0.83631	0.0:0.0:1.0:0.0	.	1189	O60885	BRD4_HUMAN	V	1189	ENSP00000263377:A1189V	ENSP00000263377:A1189V	A	-	2	0	BRD4	15211213	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.340000	0.79292	2.115000	0.64714	0.550000	0.68814	GCG		0.627	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	0	NM_058243		19:15350213
NAP1L5	266812	broad.mit.edu	37	4	89618369	89618369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:89618369G>T	ENST00000323061.5	-	1	1017	c.537C>A	c.(535-537)gaC>gaA	p.D179E	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	179					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ACTTCTTGGCGTCATCAGGCA	0.557																																						ENST00000323061.5		NA																	0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(535-537)gaC>gaA		nucleosome assembly protein 1-like 5							144.0	152.0	150.0					4																	89618369		2203	4300	6503	SO:0001583	missense	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618369G>T	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.537C>A	4.37:g.89618369G>T	ENSP00000320488:p.Asp179Glu	False	False		Somatic	0				HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.D179E	NM_153757.2	NP_715638.1	WXS	Illumina HiSeq	Phase_I	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	1017	-			179						Missense_Mutation	SNP	ENST00000323061.5	37	c.537C>A	CCDS3632.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087495	0.55968	.	.	ENSG00000177432	ENST00000323061	T	0.54071	0.59	4.68	0.613	0.17597	.	.	.	.	.	T	0.33294	0.0858	N	0.24115	0.695	0.09310	N	1	B	0.25743	0.133	B	0.24155	0.051	T	0.19386	-1.0307	9	0.38643	T	0.18	0.3726	5.1882	0.15195	0.2844:0.1519:0.5637:0.0	.	179	Q96NT1	NP1L5_HUMAN	E	179	ENSP00000320488:D179E	ENSP00000320488:D179E	D	-	3	2	NAP1L5	89837392	0.036000	0.19791	0.000000	0.03702	0.548000	0.35241	0.747000	0.26290	0.142000	0.18901	-0.154000	0.13518	GAC		0.557	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	0	NM_153757		4:89618369
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T	rs372561524		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000376730.4	+	4	1266	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000442371.1_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463																																						ENST00000442371.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(781-783)gtC>gtT		glucosaminyl (N-acetyl) transferase 1, core 2							104.0	83.0	90.0					9																	79118080		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118080C>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.783C>T	9.37:g.79118080C>T		False	False		Somatic	0				GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V	p.V261V	NM_001097634.1	NP_001091103.1	WXS	Illumina HiSeq	Phase_I	Q02742	GCNT1_HUMAN			3	1722	+			261			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.783C>T	CCDS6653.1																																																																																				0.463	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	0	NM_001097634		9:79118080
GRIK1	2897	broad.mit.edu	37	21	30909555	30909555	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:30909555G>T	ENST00000389125.3	-	16	2838	c.2714C>A	c.(2713-2715)gCg>gAg	p.A905E	GRIK1_ENST00000399914.1_Missense_Mutation_p.A934E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTTGGATCACGCCACAGTCTC	0.393																																						ENST00000399914.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2800-2802)gCg>gAg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						91.0	85.0	87.0					21																	30909555		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30909555G>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2714C>A	21.37:g.30909555G>T	ENSP00000373777:p.Ala905Glu	False	False		Somatic	0				GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E	p.A934E			WXS	Illumina HiSeq	Phase_I	P39086	GRIK1_HUMAN			17	3322	-			0					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000389125.3	37	c.2801C>A	CCDS33530.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621724	0.46736	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441	T;T;T;T;T	0.16196	2.36;2.58;2.55;2.39;2.55	4.55	3.66	0.41972	.	1.019010	0.07840	N	0.962905	T	0.33818	0.0876	L	0.48642	1.525	0.80722	D	1	P;D;D	0.69078	0.649;0.996;0.997	B;P;P	0.58210	0.049;0.755;0.835	T	0.08617	-1.0713	10	0.87932	D	0	.	15.2569	0.73593	0.0:0.1417:0.8583:0.0	.	934;920;905	E7EPY9;E9PD61;P39086-2	.;.;.	E	949;905;920;934;922	ENSP00000327687:A949E;ENSP00000373777:A905E;ENSP00000382797:A920E;ENSP00000382798:A934E;ENSP00000446326:A922E	ENSP00000327687:A949E	A	-	2	0	GRIK1	29831426	1.000000	0.71417	0.868000	0.34077	0.930000	0.56654	4.884000	0.63135	1.494000	0.48533	0.484000	0.47621	GCG		0.393	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171978.1	0			21:30909555
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493																																						ENST00000393232.1		NA																	1	Substitution - Missense(1)	p.R248L(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(742-744)cGc>cAc		nuclear respiratory factor 1							122.0	124.0	124.0					7																	129349051		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129349051G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.743G>A	7.37:g.129349051G>A	ENSP00000376924:p.Arg248His	False	False		Somatic	0				NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	p.R248H	NM_005011.3	NP_005002.3	WXS	Illumina HiSeq	Phase_I	Q16656	NRF1_HUMAN			6	860	+			248					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.743G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC		0.493	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	0	NM_001040110		7:129349051
AOC4P	90586	broad.mit.edu	37	17	41020316	41020316	+	RNA	SNP	G	G	A	rs539852170	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:41020316G>A	ENST00000585538.1	+	0	1155					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		CTTTGGCCTCGGAGCATTCAG	0.602													G|||	4	0.000798722	0.003	0.0	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0					ENST00000585538.1		NA																	0					NA																																														0							g.chr17:41020316G>A			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020316G>A		False	False		Somatic	0						NR_002773.1		WXS	Illumina HiSeq	Phase_I					0	1155	+			NA						RNA	SNP	ENST00000585538.1	37																																																																																						0.602	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1	0			17:41020316
HIRA	7290	broad.mit.edu	37	22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488																																						ENST00000263208.5		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1429-1431)Gca>Aca		histone cell cycle regulator							80.0	92.0	88.0					22																	19365576		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365576C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1429G>A	22.37:g.19365576C>T	ENSP00000263208:p.Ala477Thr	False	False		Somatic	0				HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T	p.A477T	NM_003325.3	NP_003316.3	WXS	Illumina HiSeq	Phase_I	P54198	HIRA_HUMAN			14	1685	-	Colorectal(54;0.0993)		477			Interaction with ASF1A.|Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1429G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030001	0.93575	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.4;-0.64;-0.48;-0.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;P	0.67145	0.974;0.996;0.956	P;D;P	0.79784	0.647;0.993;0.549	T	0.69228	-0.5200	10	0.16896	T	0.51	-16.2298	19.1181	0.93350	0.0:1.0:0.0:0.0	.	433;477;477	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	T	477;477;433;433	ENSP00000345350:A477T;ENSP00000263208:A477T;ENSP00000446073:A433T;ENSP00000441870:A433T	ENSP00000263208:A477T	A	-	1	0	HIRA	17745576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	2.756000	0.94617	0.655000	0.94253	GCA		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	0	NM_003325		22:19365576
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A	rs201121603		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19090	0.0		0.0	False		,,,				2504	0.0					ENST00000291823.2		NA																	0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1345-1347)gCg>gTg		homeodomain interacting protein kinase 4							86.0	90.0	89.0					19																	40886552		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886552G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1346C>T	19.37:g.40886552G>A	ENSP00000291823:p.Ala449Val	False	False		Somatic	0					p.A449V	NM_144685.3	NP_653286.2	WXS	Illumina HiSeq	Phase_I	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1630	-			449					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1346C>T	CCDS12555.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.004	-2.287071	0.00248	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.66099	-0.19	4.84	-4.35	0.03656	.	1.367440	0.05006	N	0.470122	T	0.31136	0.0787	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	7.7812	0.29066	0.217:0.3469:0.4361:0.0	.	449	Q8NE63	HIPK4_HUMAN	V	449;414	ENSP00000291823:A449V	ENSP00000291823:A449V	A	-	2	0	HIPK4	45578392	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.930000	0.03972	-0.596000	0.05821	-0.598000	0.04106	GCG		0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	0	NM_144685		19:40886552
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	423					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413																																						ENST00000358842.3		NA																	0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(706-708)tCt>tGt		glycerol kinase 2							66.0	70.0	69.0					4																	80328648		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328648G>C	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.707C>G	4.37:g.80328648G>C	ENSP00000351706:p.Ser236Cys	False	False		Somatic	0					p.S236C	NM_033214.2	NP_149991.2	WXS	Illumina HiSeq	Phase_I	Q14410	GLPK2_HUMAN			1	724	-			236					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.707C>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	5.559	0.287923	0.10513	.	.	ENSG00000196475	ENST00000358842	T	0.58060	0.36	4.57	2.8	0.32819	Carbohydrate kinase, FGGY, N-terminal (1);	0.115441	0.64402	N	0.000010	T	0.53206	0.1782	M	0.71581	2.175	0.58432	D	0.999998	B	0.31290	0.318	B	0.34093	0.175	T	0.57860	-0.7738	10	0.72032	D	0.01	-10.4064	13.132	0.59389	0.0:0.3081:0.6919:0.0	.	236	Q14410	GLPK2_HUMAN	C	236	ENSP00000351706:S236C	ENSP00000351706:S236C	S	-	2	0	GK2	80547672	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	3.061000	0.49963	0.612000	0.30071	-0.203000	0.12734	TCT		0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	0	NM_033214		4:80328648
MATN1	4146	broad.mit.edu	37	1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A	rs201435688		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATATTCCGCACAGCCGCC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20286	0.0		0.001	False		,,,				2504	0.0					ENST00000373765.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1027-1029)Cgg>Tgg		matrilin 1, cartilage matrix protein							106.0	115.0	112.0					1																	31188936		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31188936G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1027C>T	1.37:g.31188936G>A	ENSP00000362870:p.Arg343Trp	False	False		Somatic	0				MATN1_ENST00000477320.1_5'UTR	p.R343W	NM_002379.3	NP_002370.1	WXS	Illumina HiSeq	Phase_I	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	1062	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	343			VWFA 2.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.1027C>T	CCDS336.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.4	3.990861	0.74703	.	.	ENSG00000162510	ENST00000373765	T	0.79554	-1.28	5.34	0.615	0.17608	von Willebrand factor, type A (3);	.	.	.	.	D	0.88179	0.6367	M	0.78285	2.405	0.35079	D	0.763242	D;D	0.89917	0.999;1.0	D;D	0.68483	0.958;0.958	D	0.91112	0.4923	9	0.72032	D	0.01	-22.2694	14.8171	0.70041	0.0:0.0:0.2392:0.7608	.	327;343	A3KMG0;P21941	.;MATN1_HUMAN	W	343	ENSP00000362870:R343W	ENSP00000362870:R343W	R	-	1	2	MATN1	30961523	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.748000	0.62148	0.193000	0.20303	0.650000	0.86243	CGG		0.592	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	0	NM_002379		1:31188936
R3HDM2	22864	broad.mit.edu	37	12	57677715	57677715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57677715G>A	ENST00000347140.3	-	13	1411	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Nonsense_Mutation_p.R355*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	341	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAGGGGGTCGCATGCTCCGG	0.592																																						ENST00000402412.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1063-1065)Cga>Tga		R3H domain containing 2							107.0	99.0	102.0					12																	57677715		2203	4300	6503	SO:0001587	stop_gained	22864					nucleus	nucleic acid binding	g.chr12:57677715G>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1021C>T	12.37:g.57677715G>A	ENSP00000317903:p.Arg341*	False	False		Somatic	0				RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*	p.R355*			WXS	Illumina HiSeq	Phase_I	Q9Y2K5	R3HD2_HUMAN			13	1453	-			341			Ser-rich.		Q2M1T9|Q3ZCT5	Nonsense_Mutation	SNP	ENST00000347140.3	37	c.1063C>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	37	6.381252	0.97520	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3391	16.9803	0.86325	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;341;355;341;2;106;341;211	.	ENSP00000317903:R341X	R	-	1	2	R3HDM2	55963982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.455000	0.66658	2.544000	0.85801	0.555000	0.69702	CGA		0.592	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	0	NM_014925		12:57677715
HDAC9	9734	broad.mit.edu	37	7	18668998	18668998	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000432645.2	+	6	681	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000406451.4_Silent_p.R227R|HDAC9_ENST00000405010.3_Silent_p.R227R	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	227	Interaction with ETV6.|Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408																																						ENST00000406451.4		NA																	0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(679-681)cgG>cgA		histone deacetylase 9	Valproic Acid(DB00313)						54.0	51.0	52.0					7																	18668998		1895	4113	6008	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18668998G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.681G>A	7.37:g.18668998G>A		False	False		Somatic	0				HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R	p.R227R	NM_178423.1	NP_848510.1	WXS	Illumina HiSeq	Phase_I	Q9UKV0	HDAC9_HUMAN			7	831	+	all_lung(11;0.187)		NA			Interaction with ETV6.|Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.681G>A	CCDS47555.1																																																																																				0.408	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	0			7:18668998
GPC5	2262	broad.mit.edu	37	13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	361					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTTCTTTTGATCAGAGCAA	0.398																																						ENST00000377067.3		NA																	0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1081-1083)Gat>Tat		glypican 5							125.0	130.0	128.0					13																	92380846		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380846G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1081G>T	13.37:g.92380846G>T	ENSP00000366267:p.Asp361Tyr	True	False		Somatic	0				GPC5_ENST00000483422.1_3'UTR	p.D361Y	NM_004466.4	NP_004457.1	WXS	Illumina HiSeq	Phase_I	P78333	GPC5_HUMAN			4	1453	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	361					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1081G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682939	0.68157	.	.	ENSG00000179399	ENST00000377067	T	0.55234	0.53	5.88	5.04	0.67666	.	0.478094	0.24502	N	0.037975	T	0.64091	0.2567	M	0.72894	2.215	0.37269	D	0.907309	P	0.44877	0.845	P	0.52514	0.701	T	0.72221	-0.4356	10	0.72032	D	0.01	2.7075	12.1984	0.54311	0.0779:0.0:0.9221:0.0	.	361	P78333	GPC5_HUMAN	Y	361	ENSP00000366267:D361Y	ENSP00000366267:D361Y	D	+	1	0	GPC5	91178847	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	3.232000	0.51302	1.499000	0.48617	0.557000	0.71058	GAT		0.398	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	0	NM_004466		13:92380846
PRDM2	7799	broad.mit.edu	37	1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308					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)		TACCATCACCGTAACCCCATG	0.443																																						ENST00000235372.7		NA																	0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3922-3924)cGt>cAt		PR domain containing 2, with ZNF domain							140.0	139.0	139.0					1																	14108213		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108213G>A	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.3923G>A	1.37:g.14108213G>A	ENSP00000235372:p.Arg1308His	False	False		Somatic	0				PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H	p.R1308H	NM_012231.4	NP_036363.2	WXS	Illumina HiSeq	Phase_I	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	4779	+	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)	1308					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3923G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502016	0.64298	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	6.781000	0.75068	1.635000	0.50512	0.655000	0.94253	CGT		0.443	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	NM_012231		1:14108213
ZNF883	169834	broad.mit.edu	37	9	115759599	115759599	+	lincRNA	SNP	G	G	A	rs200334238		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:115759599G>A	ENST00000427548.1	-	0	2214							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCCTGTATGCGTCCTCTGATG	0.378																																						ENST00000427548.1		NA																	0					NA								zinc finger protein 883		A	MET/THR	0,4348		0,0,2174	171.0	188.0	182.0		941	-0.9	0.6	9		182	8,8562		0,8,4277	yes	missense	ZNF883	NM_001101338.1	81	0,8,6451	AA,AG,GG		0.0933,0.0,0.0619	possibly-damaging	314/380	115759599	8,12910	2174	4285	6459			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759599G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759599G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	P0CG24	ZN883_HUMAN			0	2214	-			NA						RNA	SNP	ENST00000427548.1	37																																																																																						0.378	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	0	NM_001101338		9:115759599
GATA3	2625	broad.mit.edu	37	10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000346208.3	+	3	1145	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.S230R			P23771	GATA3_HUMAN	GATA binding protein 3	230					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGAGTACAGCTCCGGACTCT	0.697			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3		NA		Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(688-690)agC>agA		GATA binding protein 3							45.0	44.0	45.0					10																	8100716		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100716C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.690C>A	10.37:g.8100716C>A	ENSP00000341619:p.Ser230Arg	False	False		Somatic	0				GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R	p.S230R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina HiSeq	Phase_I	P23771	GATA3_HUMAN			3	1258	+			230					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.690C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846693	0.51164	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96459	-4.02;-4.0	5.55	5.55	0.83447	.	0.098818	0.64402	D	0.000001	D	0.94647	0.8274	L	0.50333	1.59	0.42485	D	0.99287	P;B	0.43826	0.818;0.317	B;B	0.39299	0.296;0.124	D	0.94291	0.7528	10	0.39692	T	0.17	-19.3456	19.5043	0.95108	0.0:1.0:0.0:0.0	.	230;230	P23771;P23771-2	GATA3_HUMAN;.	R	230	ENSP00000368632:S230R;ENSP00000341619:S230R	ENSP00000341619:S230R	S	+	3	2	GATA3	8140722	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.873000	0.56093	2.607000	0.88179	0.561000	0.74099	AGC		0.697	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	0	NM_001002295		10:8100716
FXYD6	53826	broad.mit.edu	37	11	117711040	117711040	+	Missense_Mutation	SNP	C	C	T	rs375394300|rs202139278	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117711040C>T	ENST00000526014.1	-	6	848	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|RP11-728F11.4_ENST00000525260.1_RNA|RP11-728F11.4_ENST00000534150.1_RNA|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	85					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTACCATTGGCGGTGATGAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		20168	0.001		0.001	False		,,,				2504	0.0					ENST00000526014.1		NA																	0				central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8						c.(253-255)Gcc>Acc		FXYD domain containing ion transport regulator 6							107.0	90.0	96.0					11																	117711040		2201	4296	6497	SO:0001583	missense	53826							g.chr11:117711040C>T	BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.253G>A	11.37:g.117711040C>T	ENSP00000433312:p.Ala85Thr	False	False		Somatic	0				FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T	p.A85T	NM_022003.3	NP_071286.1	WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)	6	848	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)	NA					A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Missense_Mutation	SNP	ENST00000526014.1	37	c.253G>A	CCDS8387.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.60	2.285401	0.40394	.	.	ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.44	1.5	0.22942	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.20703	N	0.999866	B;B	0.17852	0.024;0.005	B;B	0.11329	0.006;0.002	T	0.23868	-1.0176	8	0.31617	T	0.26	.	4.0755	0.09902	0.4491:0.3991:0.0:0.1519	.	85;85	E9PJ02;Q9H0Q3	.;FXYD6_HUMAN	T	85	ENSP00000444243:A85T;ENSP00000442756:A85T;ENSP00000260282:A85T;ENSP00000431446:A85T;ENSP00000433312:A85T;ENSP00000431427:A85T	ENSP00000260282:A85T	A	-	1	0	FXYD6	117216250	0.774000	0.28592	0.493000	0.27502	0.921000	0.55340	0.837000	0.27558	0.394000	0.25230	0.655000	0.94253	GCC		0.597	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	0	NM_022003		11:117711040
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000347598.4	+	27	3284	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557																																						ENST00000399655.1		NA																	0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3223-3225)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						63.0	66.0	65.0					12																	2716164		2072	4233	6305	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2716164C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3284C>T	12.37:g.2716164C>T	ENSP00000266376:p.Thr1095Met	False	False		Somatic	0				CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M	p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina HiSeq	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	26	3489	+			1095					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3224C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.322899	0.41096	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.86	4.86	0.63082	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	0.139000	0.22563	0.995000	0.50966	0.979000	0.70002	1.089000	0.30890	2.687000	0.91594	0.651000	0.88453	ACG		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	0	NM_000719		12:2716164
