#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
VPS26A	9559	broad.mit.edu	37	10	70917965	70917966	+	In_Frame_Ins	INS	-	-	GCAAACATT			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:70917965_70917966insGCAAACATT	ENST00000373382.1	+	6	1202_1203	c.549_550insGCAAACATT	c.(550-552)aag>GCAAACATTaag	p.183_184insANI	VPS26A_ENST00000489794.1_In_Frame_Ins_p.158_159insANI|VPS26A_ENST00000546041.1_In_Frame_Ins_p.166_167insANI|VPS26A_ENST00000541711.1_In_Frame_Ins_p.72_73insANI|VPS26A_ENST00000263559.6_In_Frame_Ins_p.183_184insANI|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000395098.1_In_Frame_Ins_p.183_184insANI			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	183					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATAATAAATCAAAGTAAGTATC	0.312																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(550-552)aag>GCAAACATTaag		vacuolar protein sorting 26 homolog A (S. pombe)																																				SO:0001652	inframe_insertion	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917965_70917966insGCAAACATT	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	Exception_encountered	10.37:g.70917965_70917966insGCAAACATT	ENSP00000362480:p.Ser183_Lys184insAlaAsnIle	True	False		Somatic	0				VPS26A_ENST00000546041.1_In_Frame_Ins_p.166_167insANI|VPS26A_ENST00000541711.1_In_Frame_Ins_p.72_73insANI|VPS26A_ENST00000395098.1_In_Frame_Ins_p.183_184insANI|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000263559.6_In_Frame_Ins_p.183_184insANI|VPS26A_ENST00000489794.1_In_Frame_Ins_p.158_159insANI	p.183_184insANI			WXS	Illumina HiSeq	Phase_I	O75436	VP26A_HUMAN			6	1202_1203	+			183					A8MZ56|B2RDD3|Q8TBH4|Q9H982	In_Frame_Ins	INS	ENST00000373382.1	37	c.549_550insGCAAACATT	CCDS7286.1																																																																																				0.312	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	0	NM_004896		10:70917965
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000540622.1		NA																	8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(376-378)cag>caCCAg		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup	True	False		Somatic	2				DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH	p.125_126insH			WXS	Illumina HiSeq	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		4	435_436	-			251					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.377_378insCCA	CCDS31727.1																																																																																				0.550	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	0	NM_152640		12:2062350
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000446760.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	114						cytoplasm (GO:0005737)				ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466																																						ENST00000442909.2		NA																	0				ovary(2)	2						c.(8794-8799)gatagafs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146459553_146459556delGATA	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8794_8797delGATA	1.37:g.146459553_146459556delGATA	ENSP00000391116:p.Asp2932fs	False	False		Somatic	1				NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000446760.2_Intron	p.DR2932fs			WXS	Illumina HiSeq	Phase_I					74	9630_9633	+			NA					O95877	Frame_Shift_Del	DEL	ENST00000442909.2	37	c.8794_8797delGATA																																																																																					0.466	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	0	XM_003119146		1:146459553
KRT2	3849	broad.mit.edu	37	12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-	rs200226673|rs11835758	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621																																						ENST00000309680.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(148-153)ggcggg>ggg		keratin 2																																				SO:0001651	inframe_deletion	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045775_53045777delCCG		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.150_152delCGG	12.37:g.53045775_53045777delCCG	ENSP00000310861:p.Gly52del	True	False		Somatic	1					p.50_51GG>G	NM_000423.2	NP_000414.2	WXS	Illumina HiSeq	Phase_I	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	171_173	-			50			Head.		Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	c.150_152delCGG	CCDS8835.1																																																																																				0.621	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	NM_000423		12:53045775
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
OR2T4	127074	broad.mit.edu	37	1	248525328	248525329	+	Frame_Shift_Ins	INS	-	-	TA	rs370409078|rs61248663	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:248525328_248525329insTA	ENST00000366475.1	+	1	446_447	c.446_447insTA	c.(445-450)accatgfs	p.M150fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M150fs*20(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTTCTAGCCACCATGGCCTATG	0.525														1358	0.271166	0.2284	0.2637	5008	,	,		20870	0.381		0.1779	False		,,,				2504	0.317					ENST00000366475.1		NA																	1	Insertion - Frameshift(1)	p.M150fs*20(1)	liver(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(445-450)accatgfs		olfactory receptor, family 2, subfamily T, member 4																																				SO:0001589	frameshift_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525328_248525329insTA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	Exception_encountered	1.37:g.248525328_248525329insTA	ENSP00000355431:p.Met150fs	False	False		Somatic	0					p.M150fs	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	446_447	+	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)		150					Q6IEZ8	Frame_Shift_Ins	INS	ENST00000366475.1	37	c.446_447insTA	CCDS31113.1																																																																																				0.525	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248525328
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
HACL1	26061	broad.mit.edu	37	3	15613278	15613278	+	Splice_Site	DEL	T	T	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:15613278delT	ENST00000321169.5	-	12	1361		c.e12-2		HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000451445.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAA	0.323																																						ENST00000451445.2		NA																	0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.e9-2		2-hydroxyacyl-CoA lyase 1							77.0	75.0	76.0					3																	15613278		2203	4300	6503	SO:0001630	splice_region_variant	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15613278delT	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.994-2A>-	3.37:g.15613278delT		False	False		Somatic	2				HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000321169.5_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9UJ83	HACL1_HUMAN			9	871	-			NA					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Splice_Site	DEL	ENST00000321169.5	37		CCDS2627.1																																																																																				0.323	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	0	NM_012260	Intron	3:15613278
FGF10	2255	broad.mit.edu	37	5	44310627	44310628	+	Frame_Shift_Ins	INS	-	-	ACACCGAATAGCTTTGTTATCCTTCTATT			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:44310627_44310628insACACCGAATAGCTTTGTTATCCTTCTATT	ENST00000264664.4	-	2	444_445	c.330_331insAATAGAAGGATAACAAAGCTATTCGGTGT	c.(328-333)atcctgfs	p.L111fs		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	111					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GTTATCTCCAGGATGCCTAAAA	0.337																																						ENST00000264664.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(328-333)atcctgfs		fibroblast growth factor 10																																				SO:0001589	frameshift_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44310627_44310628insACACCGAATAGCTTTGTTATCCTTCTATT		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.330_331insAATAGAAGGATAACAAAGCTATTCGGTGT	5.37:g.44310627_44310628insACACCGAATAGCTTTGTTATCCTTCTATT	ENSP00000264664:p.Leu111fs	False	False		Somatic	0					p.L111fs	NM_004465.1	NP_004456.1	WXS	Illumina HiSeq	Phase_I	O15520	FGF10_HUMAN			2	444_445	-	Lung NSC(6;1.12e-06)		111					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Frame_Shift_Ins	INS	ENST00000264664.4	37	c.330_331insAATAGAAGGATAACAAAGCTATTCGGTGT	CCDS3950.1																																																																																				0.337	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	0	NM_004465		5:44310627
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
POLR2J4	84820	broad.mit.edu	37	7	44012831	44012833	+	RNA	DEL	CGT	CGT	-	rs564187601|rs113536354	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CGT	CGT	-	-	CGT	CGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:44012831_44012833delCGT	ENST00000427076.1	-	0	983_985				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		TCATCCATGACGTAGAAAGCCAC	0.621																																						ENST00000427076.1		NA																	0					NA																																														0							g.chr7:44012831_44012833delCGT			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012831_44012833delCGT		False	False		Somatic	1						NR_003655.2		WXS	Illumina HiSeq	Phase_I					0	983_985	-			NA						RNA	DEL	ENST00000427076.1	37																																																																																						0.621	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	0	NR_003655		7:44012831
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76652976	76652977	+	RNA	INS	-	-	TA			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:76652976_76652977insTA	ENST00000584900.1	+	0	1534_1535					NR_023383.1				DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene																		GTATTCAGCTCCATCAAGAATG	0.475																																						ENST00000584900.1		NA																	0					NA																																														0							g.chr7:76652976_76652977insTA	U38980		7q11.23	2014-09-10	2012-12-07		ENSG00000265479	ENSG00000265479			42360	other	readthrough			"""DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding)"""				Standard	NR_023383		Approved		uc003ufw.4		OTTHUMG00000179528		7.37:g.76652976_76652977insTA		False	False		Somatic	0						NR_023383.1		WXS	Illumina HiSeq	Phase_I					0	1534_1535	+			NA						RNA	INS	ENST00000584900.1	37																																																																																						0.475	DTX2P1-UPK3BP1-PMS2P11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000446923.2	0	NR_023383		7:76652976
SRRT	51593	broad.mit.edu	37	7	100484026	100484027	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100484026_100484027delCT	ENST00000347433.4	+	13	1775_1776	c.1617_1618delCT	c.(1615-1620)gcctcafs	p.S540fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.S539fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.S540fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.S539fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	540					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCTTTGGGCCTCAGAACCAGG	0.579																																						ENST00000388793.4		NA																	0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1612-1617)gcctcafs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484026_100484027delCT		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1617_1618delCT	7.37:g.100484026_100484027delCT	ENSP00000314491:p.Ser540fs	False	False		Somatic	1				SRRT_ENST00000457580.2_Frame_Shift_Del_p.S540fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.S539fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.S540fs	p.S539fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina HiSeq	Phase_I	Q9BXP5	SRRT_HUMAN			13	1834_1835	+			540					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	ENST00000347433.4	37	c.1614_1615delCT	CCDS34709.1																																																																																				0.579	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	0	NM_015908		7:100484026
TFE3	7030	broad.mit.edu	37	X	48887764	48887764	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:48887764G>A	ENST00000315869.7	-	10	1892	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	545					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAGGCAGCCCGCAGTGGGGAC	0.662			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1633-1635)Cgg>Tgg		transcription factor binding to IGHM enhancer 3							21.0	19.0	20.0					X																	48887764		2203	4294	6497	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887764G>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1633C>T	X.37:g.48887764G>A	ENSP00000314129:p.Arg545Trp	True	False		Somatic	0					p.R545W	NM_006521.4	NP_006512.2	WXS	Illumina HiSeq	Phase_I	P19532	TFE3_HUMAN			10	1892	-			545					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1633C>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952187	0.53293	.	.	ENSG00000068323	ENST00000315869	T	0.16073	2.37	5.41	3.53	0.40419	.	0.217637	0.23213	U	0.050656	T	0.09818	0.0241	N	0.14661	0.345	0.41478	D	0.988141	B	0.18310	0.027	B	0.13407	0.009	T	0.09952	-1.0651	10	0.66056	D	0.02	-17.8225	7.7685	0.28993	0.0904:0.2819:0.6277:0.0	.	545	P19532	TFE3_HUMAN	W	545	ENSP00000314129:R545W	ENSP00000314129:R545W	R	-	1	2	TFE3	48774708	0.999000	0.42202	0.999000	0.59377	0.683000	0.39861	3.116000	0.50399	1.058000	0.40530	0.509000	0.49947	CGG		0.662	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	0	NM_006521		X:48887764
ZNF831	128611	broad.mit.edu	37	20	57768617	57768617	+	Missense_Mutation	SNP	C	C	T	rs375167639		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:57768617C>T	ENST00000371030.2	+	1	2543	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	848							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGGCCCACGCAGCCTGCC	0.637																																						ENST00000371030.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2542-2544)aCg>aTg		zinc finger protein 831		C	MET/THR	1,4017		0,1,2008	27.0	34.0	32.0		2543	-9.8	0.0	20		32	0,8370		0,0,4185	no	missense	ZNF831	NM_178457.1	81	0,1,6193	TT,TC,CC		0.0,0.0249,0.0081	benign	848/1678	57768617	1,12387	2009	4185	6194	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768617C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2543C>T	20.37:g.57768617C>T	ENSP00000360069:p.Thr848Met	False	False		Somatic	0					p.T848M	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	2543	+	all_lung(29;0.0085)		848					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2543C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524657	0.13066	2.49E-4	0.0	ENSG00000124203	ENST00000371030	T	0.04654	3.58	4.91	-9.81	0.00487	.	2.099750	0.01863	N	0.036738	T	0.01835	0.0058	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39941	-0.9589	10	0.31617	T	0.26	2.2937	6.1548	0.20332	0.0856:0.6705:0.0859:0.1581	.	848	Q5JPB2	ZN831_HUMAN	M	848	ENSP00000360069:T848M	ENSP00000360069:T848M	T	+	2	0	ZNF831	57202012	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.016000	0.00313	-2.912000	0.00307	-2.815000	0.00110	ACG		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57768617
AP3D1	8943	broad.mit.edu	37	19	2110781	2110781	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:2110781G>A	ENST00000345016.5	-	25	3145	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	AP3D1_ENST00000355272.6_Missense_Mutation_p.L1034F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	972					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CTGGCATTGAGTGAGTCCAGC	0.667																																						ENST00000355272.6		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3100-3102)Ctc>Ttc		adaptor-related protein complex 3, delta 1 subunit							35.0	40.0	38.0					19																	2110781		2202	4298	6500	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110781G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2914C>T	19.37:g.2110781G>A	ENSP00000344055:p.Leu972Phe	True	False		Somatic	0				AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000345016.5_Missense_Mutation_p.L972F	p.L1034F	NM_001261826.1	NP_001248755.1	WXS	Illumina HiSeq	Phase_I	O14617	AP3D1_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)	27	3306	-		Hepatocellular(1079;0.137)	972					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.3100C>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297458	0.81025	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.81	3.76	0.43208	.	0.000000	0.64402	D	0.000001	T	0.68357	0.2992	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;0.992	D;D;D;P	0.85130	0.958;0.997;0.924;0.876	T	0.69007	-0.5259	10	0.44086	T	0.13	-39.004	12.0641	0.53578	0.0879:0.0:0.9121:0.0	.	803;1034;972;931	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	F	931;972;1034;840;803	ENSP00000349398:L931F;ENSP00000344055:L972F;ENSP00000347416:L1034F;ENSP00000342321:L803F	ENSP00000341579:L840F	L	-	1	0	AP3D1	2061781	1.000000	0.71417	0.960000	0.40013	0.959000	0.62525	6.290000	0.72712	2.214000	0.71695	0.491000	0.48974	CTC		0.667	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	0			19:2110781
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:129214429C>T	ENST00000348417.2	+	18	2264	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Silent_p.L780L|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000504021.1_Silent_p.L605L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	729					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACACCGACCTCTGCATGTTTG	0.537																																						ENST00000296266.3		NA																	0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2338-2340)ctC>ctT		intraflagellar transport 122 homolog (Chlamydomonas)							123.0	110.0	114.0					3																	129214429		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214429C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2187C>T	3.37:g.129214429C>T		False	False		Somatic	0				IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000348417.2_Silent_p.L729L	p.L780L	NM_052985.2	NP_443711.2	WXS	Illumina HiSeq	Phase_I	Q9HBG6	IF122_HUMAN			19	2532	+			729					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.2340C>T	CCDS3061.1																																																																																				0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	0	NM_018262		3:129214429
PCNT	5116	broad.mit.edu	37	21	47831434	47831434	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:47831434C>A	ENST00000359568.5	+	28	5554	c.5447C>A	c.(5446-5448)gCc>gAc	p.A1816D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1816					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACAGCCAGGCCCTGGAGGCC	0.706																																						ENST00000359568.5		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5446-5448)gCc>gAc		pericentrin							8.0	11.0	10.0					21																	47831434		2125	4213	6338	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831434C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5447C>A	21.37:g.47831434C>A	ENSP00000352572:p.Ala1816Asp	True	False		Somatic	0				PCNT_ENST00000480896.1_3'UTR	p.A1816D	NM_006031.5	NP_006022.3	WXS	Illumina HiSeq	Phase_I	O95613	PCNT_HUMAN			28	5554	+	Breast(49;0.112)		1816					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5447C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574208	0.65878	.	.	ENSG00000160299	ENST00000359568	T	0.01572	4.76	5.79	3.8	0.43715	.	0.000000	0.32190	N	0.006460	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.51156	-0.8741	10	0.18710	T	0.47	.	12.1547	0.54070	0.2978:0.7022:0.0:0.0	.	1698;1816	O95613-2;O95613	.;PCNT_HUMAN	D	1816	ENSP00000352572:A1816D	ENSP00000352572:A1816D	A	+	2	0	PCNT	46655862	0.477000	0.25909	1.000000	0.80357	0.855000	0.48748	0.786000	0.26844	2.739000	0.93911	0.563000	0.77884	GCC		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	NM_006031		21:47831434
TRPS1	7227	broad.mit.edu	37	8	116430660	116430660	+	Silent	SNP	A	A	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:116430660A>T	ENST00000220888.5	-	5	2841	c.2682T>A	c.(2680-2682)gtT>gtA	p.V894V	TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000395715.3_Silent_p.V907V|TRPS1_ENST00000520276.1_Silent_p.V898V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	894			V -> D (in TRPS3; in heterozygous status has a milder effect causing TRPS1). {ECO:0000269|PubMed:11112658}.		chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGCACAAAAAACACCGGAGC	0.488									Langer-Giedion syndrome																													ENST00000395715.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2719-2721)gtT>gtA		trichorhinophalangeal syndrome I							112.0	113.0	113.0					8																	116430660		1914	4128	6042	SO:0001819	synonymous_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430660A>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2682T>A	8.37:g.116430660A>T		True	False		Somatic	0				TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000520276.1_Silent_p.V898V|TRPS1_ENST00000220888.5_Silent_p.V894V	p.V907V	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	WXS	Illumina HiSeq	Phase_I	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3298	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		894					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2721T>A		.	.	.	.	.	.	.	.	.	.	A	5.146	0.212445	0.09757	.	.	ENSG00000104447	ENST00000518018	.	.	.	5.81	3.3	0.37823	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	4	.	.	.	.	7.5919	0.28025	0.8057:0.0:0.0684:0.1259	.	.	.	.	I	19	.	.	F	-	1	0	TRPS1	116499836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.219000	0.32479	1.027000	0.39758	0.528000	0.53228	TTT		0.488	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	0	NM_014112		8:116430660
SLC4A5	57835	broad.mit.edu	37	2	74474203	74474203	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:74474203G>A	ENST00000377634.4	-	19	2418	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLC4A5_ENST00000357822.5_Silent_p.F673F|SLC4A5_ENST00000359484.4_Silent_p.F609F|SLC4A5_ENST00000358683.4_Silent_p.F609F|SLC4A5_ENST00000346834.4_Silent_p.F673F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.F673F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.F673F|SLC4A5_ENST00000423644.1_Silent_p.F673F					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTAGTGATGAAGTTTGGCT	0.532																																						ENST00000394019.2		NA																	0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2017-2019)ttC>ttT		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							257.0	241.0	247.0					2																	74474203		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74474203G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2019C>T	2.37:g.74474203G>A		False	False		Somatic	0				SLC4A5_ENST00000358683.4_Silent_p.F609F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.F673F|SLC4A5_ENST00000377632.1_Silent_p.F673F|SLC4A5_ENST00000346834.4_Silent_p.F673F|SLC4A5_ENST00000423644.1_Silent_p.F673F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.F609F|SLC4A5_ENST00000377634.4_Silent_p.F673F	p.F673F	NM_133478.2	NP_597812.1	WXS	Illumina HiSeq	Phase_I	Q9BY07	S4A5_HUMAN			19	2416	-			673						Silent	SNP	ENST00000377634.4	37	c.2019C>T	CCDS1936.1																																																																																				0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3	0			2:74474203
TP53	7157	broad.mit.edu	37	17	7579317	7579317	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7579317A>G	ENST00000269305.4	-	4	559	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	TP53_ENST00000420246.2_Missense_Mutation_p.C124R|TP53_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000455263.2_Missense_Mutation_p.C124R	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(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)	CTGACCGTGCAAGTCACAGAC	0.542		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"""		28	Deletion - Frameshift(9)|Substitution - Missense(8)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(1)	ovary(5)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(3)|breast(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(370-372)Tgc>Cgc	Other conserved DNA damage response genes	tumor protein p53							66.0	62.0	63.0					17																	7579317		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.chr17:7579317A>G	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.370T>C	17.37:g.7579317A>G	ENSP00000269305:p.Cys124Arg	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_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R|TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000269305.4_Missense_Mutation_p.C124R|TP53_ENST00000455263.2_Missense_Mutation_p.C124R	p.C124R	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)	4	502	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.370T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075353	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.099990	0.64402	D	0.000002	D	0.99674	0.9878	M	0.78049	2.395	0.80722	D	1	D;P;D;P;D;D;D	0.89917	0.988;0.934;1.0;0.923;0.999;1.0;0.986	P;P;D;P;D;D;D	0.91635	0.883;0.806;0.997;0.63;0.995;0.999;0.918	D	0.97415	1.0005	10	0.72032	D	0.01	-11.7577	12.5363	0.56144	1.0:0.0:0.0:0.0	.	85;124;124;124;124;124;124	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	124;124;124;124;124;124;113;124;124	ENSP00000410739:C124R;ENSP00000352610:C124R;ENSP00000269305:C124R;ENSP00000398846:C124R;ENSP00000391127:C124R;ENSP00000391478:C124R;ENSP00000424104:C124R;ENSP00000426252:C124R	ENSP00000269305:C124R	C	-	1	0	TP53	7520042	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	5.673000	0.68109	2.125000	0.65367	0.533000	0.62120	TGC		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579317
SPC24	147841	broad.mit.edu	37	19	11258504	11258504	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11258504C>A	ENST00000592540.1	-	4	508	c.477G>T	c.(475-477)atG>atT	p.M159I		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	159	Interaction with the C-terminus of SPBC25.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						TGCCTTTGACCATCCCTGGCT	0.413																																						ENST00000592540.1		NA																	0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(475-477)atG>atT		SPC24, NDC80 kinetochore complex component							57.0	59.0	58.0					19																	11258504		1911	4119	6030	SO:0001583	missense	147841				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr19:11258504C>A	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"""spindle pole body component 24 homolog (S. cerevisiae)"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.477G>T	19.37:g.11258504C>A	ENSP00000465075:p.Met159Ile	False	False		Somatic	0					p.M159I	NM_182513.2	NP_872319.1	WXS	Illumina HiSeq	Phase_I	Q8NBT2	SPC24_HUMAN			4	508	-			159			Interaction with the C-terminus of SPBC25.		B4DZZ7|C9JGC4	Missense_Mutation	SNP	ENST00000592540.1	37	c.477G>T	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.267896	0.00259	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	5.09	-3.27	0.05048	.	0.808315	0.11282	N	0.580210	T	0.20901	0.0503	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	9	0.19590	T	0.45	-10.8297	8.142	0.31089	0.1205:0.2107:0.5919:0.077	.	159	Q8NBT2	SPC24_HUMAN	I	113;159	.	ENSP00000397131:M159I	M	-	3	0	SPC24	11119504	0.000000	0.05858	0.007000	0.13788	0.124000	0.20399	-0.899000	0.04101	-0.105000	0.12132	-0.150000	0.13652	ATG		0.413	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1	0	NM_182513		19:11258504
ELAVL3	1995	broad.mit.edu	37	19	11565684	11565684	+	Missense_Mutation	SNP	G	G	A	rs143463189		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11565684G>A	ENST00000359227.3	-	7	1185	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ELAVL3_ENST00000438662.2_Intron	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	254					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCGATGAGCGACAGGGGACT	0.677																																						ENST00000359227.3		NA																	0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(760-762)tCg>tTg		ELAV like neuron-specific RNA binding protein 3		G	LEU/SER,	1,4399		0,1,2199	122.0	137.0	132.0		761,	4.8	1.0	19	dbSNP_134	132	0,8578		0,0,4289	no	missense,intron	ELAVL3	NM_001420.3,NM_032281.2	145,	0,1,6488	AA,AG,GG		0.0,0.0227,0.0077	benign,	254/368,	11565684	1,12977	2200	4289	6489	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565684G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.761C>T	19.37:g.11565684G>A	ENSP00000352162:p.Ser254Leu	False	False		Somatic	0				ELAVL3_ENST00000438662.2_Intron	p.S254L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	WXS	Illumina HiSeq	Phase_I	Q14576	ELAV3_HUMAN			7	1185	-			254					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.761C>T	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011022	0.54361	2.27E-4	0.0	ENSG00000196361	ENST00000359227	T	0.08546	3.08	4.78	4.78	0.61160	.	0.481200	0.19343	N	0.116597	T	0.06826	0.0174	N	0.17474	0.49	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.37865	-0.9687	10	0.28530	T	0.3	.	16.6509	0.85189	0.0:0.0:1.0:0.0	.	254	Q14576	ELAV3_HUMAN	L	254	ENSP00000352162:S254L	ENSP00000352162:S254L	S	-	2	0	ELAVL3	11426684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.754000	0.55189	2.231000	0.72958	0.505000	0.49811	TCG		0.677	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	0	NM_001420		19:11565684
MAP7D3	79649	broad.mit.edu	37	X	135313711	135313711	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:135313711C>T	ENST00000316077.9	-	8	1625	c.1405G>A	c.(1405-1407)Gct>Act	p.A469T	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T|MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTGGAGCGTCTCTCGCT	0.428																																						ENST00000316077.9		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1405-1407)Gct>Act		MAP7 domain containing 3							130.0	115.0	120.0					X																	135313711		1887	4107	5994	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135313711C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1405G>A	X.37:g.135313711C>T	ENSP00000318086:p.Ala469Thr	False	False		Somatic	0				MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T|MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T	p.A469T	NM_024597.3	NP_078873.2	WXS	Illumina HiSeq	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1625	-	Acute lymphoblastic leukemia(192;0.000127)		469					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1405G>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	3.209	-0.161936	0.06502	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04194	4.42;3.85;3.85;3.68	4.33	-7.09	0.01553	.	1.863520	0.03468	N	0.213251	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28971	0.079;0.128;0.079;0.229	B;B;B;B	0.15870	0.011;0.011;0.011;0.014	T	0.35968	-0.9767	10	0.35671	T	0.21	-3.1947	1.1109	0.01704	0.2367:0.3632:0.1659:0.2342	.	451;428;469;434	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	T	434;469;451;428	ENSP00000359695:A434T;ENSP00000318086:A469T;ENSP00000359697:A451T;ENSP00000359694:A428T	ENSP00000318086:A469T	A	-	1	0	MAP7D3	135141377	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.359000	0.07632	-1.469000	0.01890	-1.699000	0.00722	GCT		0.428	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	0			X:135313711
OR10G4	390264	broad.mit.edu	37	11	123886737	123886737	+	Silent	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:123886737T>C	ENST00000320891.4	+	1	456	c.456T>C	c.(454-456)tcT>tcC	p.S152S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTGGCTCTCTGCACTCTG	0.562																																						ENST00000320891.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(454-456)tcT>tcC		olfactory receptor, family 10, subfamily G, member 4							126.0	124.0	125.0					11																	123886737		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886737T>C	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.456T>C	11.37:g.123886737T>C		True	False		Somatic	0					p.S152S	NM_001004462.1	NP_001004462.1	WXS	Illumina HiSeq	Phase_I	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	456	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	152					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.456T>C	CCDS31702.1																																																																																				0.562	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	0	NM_001004462		11:123886737
TOMM70A	9868	broad.mit.edu	37	3	100092471	100092471	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:100092471G>C	ENST00000284320.5	-	8	1694	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	416					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTTCAACTTGATCAAGGAGT	0.358																																						ENST00000284320.5		NA																	0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1246-1248)Caa>Gaa		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							117.0	113.0	114.0					3																	100092471		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100092471G>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1246C>G	3.37:g.100092471G>C	ENSP00000284320:p.Gln416Glu	False	False		Somatic	0					p.Q416E	NM_014820.4	NP_055635.3	WXS	Illumina HiSeq	Phase_I	O94826	TOM70_HUMAN			8	1694	-			416					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1246C>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509968	0.85282	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.53423	0.62	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049763	0.85682	D	0.000000	T	0.29223	0.0727	N	0.10645	0.015	0.80722	D	1	B	0.26258	0.145	B	0.26693	0.072	T	0.20338	-1.0278	10	0.05620	T	0.96	-6.0465	20.2576	0.98430	0.0:0.0:1.0:0.0	.	416	O94826	TOM70_HUMAN	E	416;309	ENSP00000284320:Q416E	ENSP00000284320:Q416E	Q	-	1	0	TOMM70A	101575161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.907000	0.92634	2.783000	0.95769	0.655000	0.94253	CAA		0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	0			3:100092471
PDK2	5164	broad.mit.edu	37	17	48187345	48187345	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:48187345C>A	ENST00000503176.1	+	11	1269	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	PDK2_ENST00000007708.3_Missense_Mutation_p.R306S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	370					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTCGGTGGAGCGCCTGCCTGT	0.662									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1		NA																	0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1108-1110)Cgc>Agc		pyruvate dehydrogenase kinase, isozyme 2							28.0	25.0	26.0					17																	48187345		2193	4287	6480	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48187345C>A	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.1108C>A	17.37:g.48187345C>A	ENSP00000420927:p.Arg370Ser	True	False		Somatic	0				PDK2_ENST00000007708.3_Missense_Mutation_p.R306S	p.R370S	NM_002611.4	NP_002602.2	WXS	Illumina HiSeq	Phase_I	Q15119	PDK2_HUMAN			11	1269	+			370					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.1108C>A	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654518	0.47467	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.42513	0.98;0.97	4.31	4.31	0.51392	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.79475	2.455	0.53005	D	0.99996	P	0.41929	0.765	B	0.38327	0.271	T	0.41233	-0.9520	10	0.35671	T	0.21	-19.2597	10.1095	0.42555	0.3243:0.6757:0.0:0.0	.	370	Q15119	PDK2_HUMAN	S	306;370	ENSP00000007708:R306S;ENSP00000420927:R370S	ENSP00000007708:R306S	R	+	1	0	PDK2	45542344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.365000	0.52335	2.121000	0.65114	0.462000	0.41574	CGC		0.662	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	0	NM_002611		17:48187345
CCDC159	126075	broad.mit.edu	37	19	11464523	11464523	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11464523G>T	ENST00000588790.1	+	11	1192	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S|DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	364										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGCTCGGGGGCCTGTCCCAA	0.587																																						ENST00000588790.1		NA																	0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(745-747)Gcc>Tcc		coiled-coil domain containing 159							19.0	21.0	20.0					19																	11464523		1911	4137	6048	SO:0001583	missense	126075							g.chr19:11464523G>T	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.745G>T	19.37:g.11464523G>T	ENSP00000468232:p.Ala249Ser	True	False		Somatic	0				CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S	p.A249S			WXS	Illumina HiSeq	Phase_I	P0C7I6	CC159_HUMAN			11	1192	+			364					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.745G>T	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551134	0.13374	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44881	0.91	4.03	-1.86	0.07760	.	.	.	.	.	T	0.20618	0.0496	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.003	B;B	0.21151	0.033;0.01	T	0.28933	-1.0028	9	0.10377	T	0.69	.	3.2836	0.06924	0.4716:0.0:0.3389:0.1894	.	364;249	P0C7I6;P0C7I6-2	CC159_HUMAN;.	S	249;364	ENSP00000402239:A249S	ENSP00000390400:A364S	A	+	1	0	CCDC159	11325523	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.226000	0.17776	-0.209000	0.10156	0.313000	0.20887	GCC		0.587	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	0	NM_001080503		19:11464523
HNRNPC	3183	broad.mit.edu	37	14	21680019	21680019	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21680019G>T	ENST00000320084.7	-	6	865	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000430246.2_Missense_Mutation_p.S196Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	209	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCCAGGAGAGAATCCACTTT	0.363																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2		NA																	0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(586-588)tCt>tAt		heterogeneous nuclear ribonucleoprotein C (C1/C2)							134.0	138.0	137.0					14																	21680019		1999	4190	6189	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21680019G>T		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.626C>A	14.37:g.21680019G>T	ENSP00000319690:p.Ser209Tyr	True	False		Somatic	0				HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000320084.7_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y	p.S196Y			WXS	Illumina HiSeq	Phase_I	P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	6	3538	-	all_cancers(95;0.00176)		209			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.587C>A	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282988	0.23392	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15603	2.79;2.97;2.82;2.82;2.81;2.97;2.82;2.79;2.82;2.99;2.41;2.59;2.81;2.97;2.82;2.82;2.97;2.63;2.41;2.8	5.34	4.43	0.53597	.	0.215683	0.29565	U	0.011792	T	0.17066	0.0410	L	0.44542	1.39	0.35600	D	0.807759	B;B;B;B;B;B;B	0.30482	0.182;0.101;0.039;0.001;0.281;0.185;0.162	B;B;B;B;B;B;B	0.29524	0.045;0.026;0.057;0.005;0.103;0.032;0.094	T	0.14062	-1.0486	10	0.48119	T	0.1	.	14.5545	0.68091	0.0:0.0:0.8522:0.1478	.	104;196;129;153;196;209;196	B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;.;.;HNRPC_HUMAN;.	Y	196;209;196;196;209;209;196;196;196;209;129;153;209;209;196;104;196;209;117;209;93;196	ENSP00000338095:S196Y;ENSP00000319690:S209Y;ENSP00000404559:S196Y;ENSP00000450725:S196Y;ENSP00000451187:S209Y;ENSP00000451291:S209Y;ENSP00000442816:S196Y;ENSP00000450548:S196Y;ENSP00000451708:S196Y;ENSP00000450790:S209Y;ENSP00000451652:S129Y;ENSP00000450629:S153Y;ENSP00000452214:S209Y;ENSP00000452276:S209Y;ENSP00000450544:S196Y;ENSP00000451176:S196Y;ENSP00000404848:S209Y;ENSP00000450601:S117Y;ENSP00000452545:S93Y;ENSP00000452021:S196Y	ENSP00000216296:S104Y	S	-	2	0	HNRNPC	20749859	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.949000	0.63596	1.358000	0.45922	0.655000	0.94253	TCT		0.363	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1	0			14:21680019
NOTUM	147111	broad.mit.edu	37	17	79910974	79910974	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:79910974C>T	ENST00000409678.3	-	11	1737	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	452						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGTCTCGGACGGTGGGGCAT	0.662																																						ENST00000409678.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1354-1356)Gtc>Atc		notum pectinacetylesterase homolog (Drosophila)							53.0	45.0	48.0					17																	79910974		2203	4299	6502	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79910974C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1354G>A	17.37:g.79910974C>T	ENSP00000387310:p.Val452Ile	False	False		Somatic	0					p.V452I	NM_178493.5	NP_848588.3	WXS	Illumina HiSeq	Phase_I	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1737	-	all_neural(118;0.0878)|Ovarian(332;0.12)		452					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.1354G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263310	0.10294	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.84	1.17	0.20885	.	0.216848	0.47852	N	0.000211	T	0.07188	0.0182	N	0.01352	-0.895	0.21473	N	0.999676	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	9	0.02654	T	1	.	5.2505	0.15519	0.0:0.1662:0.1503:0.6835	.	452	Q6P988	NOTUM_HUMAN	I	452	.	ENSP00000387310:V452I	V	-	1	0	NOTUM	77504264	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.932000	0.40143	0.228000	0.21019	-0.402000	0.06365	GTC		0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	0	NM_178493		17:79910974
SLC12A8	84561	broad.mit.edu	37	3	124826478	124826478	+	Missense_Mutation	SNP	C	C	T	rs201509993	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:124826478C>T	ENST00000393469.4	-	9	1601	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K|SLC12A8_ENST00000423114.2_Missense_Mutation_p.E547K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	518					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TCAGAGATCTCGACAGGGAAA	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		20621	0.0		0.002	False		,,,				2504	0.0					ENST00000423114.2		NA																	0				endometrium(2)|kidney(2)|lung(12)	16						c.(1639-1641)Gag>Aag		solute carrier family 12, member 8		C	LYS/GLU,LYS/GLU	0,4142		0,0,2071	107.0	124.0	118.0		1552,1552	0.9	0.0	3		118	8,8424		0,8,4208	yes	missense,missense	SLC12A8	NM_001195483.1,NM_024628.5	56,56	0,8,6279	TT,TC,CC		0.0949,0.0,0.0636	benign,benign	518/715,518/715	124826478	8,12566	2071	4216	6287	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124826478C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1552G>A	3.37:g.124826478C>T	ENSP00000377112:p.Glu518Lys	False	False		Somatic	0				SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E518K|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K	p.E547K			WXS	Illumina HiSeq	Phase_I	A0AV02	S12A8_HUMAN			10	1638	-			518					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.1639G>A	CCDS43143.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.97	1.501163	0.26861	0.0	9.49E-4	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;T	0.88509	-1.89;-2.37;-2.39;-2.37;-1.45	4.85	0.905	0.19307	.	.	.	.	.	T	0.79747	0.4499	L	0.50333	1.59	0.09310	N	1	P;B;B;P	0.44521	0.837;0.051;0.05;0.466	B;B;B;B	0.34418	0.182;0.007;0.003;0.029	T	0.68269	-0.5453	9	0.32370	T	0.25	.	3.2098	0.06678	0.1205:0.5474:0.1174:0.2147	.	271;547;518;319	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	K	319;518;547;518;271	ENSP00000415713:E319K;ENSP00000377112:E518K;ENSP00000404243:E547K;ENSP00000418783:E518K;ENSP00000323632:E271K	ENSP00000323632:E271K	E	-	1	0	SLC12A8	126309168	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	0.234000	0.21139	-0.181000	0.13052	GAG		0.552	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	0	NM_024628		3:124826478
RPS27A	6233	broad.mit.edu	37	2	55462084	55462084	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:55462084C>A	ENST00000272317.6	+	5	631	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	CLHC1_ENST00000406076.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.L103M|RPS27A_ENST00000402285.3_Missense_Mutation_p.L103M|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000494539.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	103					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						GCTGGCTGTCCTGAAATATTA	0.383																																						ENST00000272317.6		NA																	0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(307-309)Ctg>Atg		ribosomal protein S27a							46.0	44.0	45.0					2																	55462084		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462084C>A	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.307C>A	2.37:g.55462084C>A	ENSP00000272317:p.Leu103Met	False	False		Somatic	0				RPS27A_ENST00000404735.1_Missense_Mutation_p.L103M|RPS27A_ENST00000402285.3_Missense_Mutation_p.L103M	p.L103M	NM_002954.5	NP_002945.1	WXS	Illumina HiSeq	Phase_I	P62979	RS27A_HUMAN			5	631	+			103					P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.307C>A	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680555	0.68042	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.80994	-1.18;-1.18;-1.44;-1.18	5.2	2.44	0.29823	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90538	0.4500	10	0.87932	D	0	.	10.373	0.44066	0.0:0.7853:0.0:0.2147	.	103	P62979	RS27A_HUMAN	M	103	ENSP00000383981:L103M;ENSP00000272317:L103M;ENSP00000408482:L103M;ENSP00000385659:L103M	ENSP00000272317:L103M	L	+	1	2	RPS27A	55315588	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	3.131000	0.50515	0.217000	0.20800	-0.225000	0.12378	CTG		0.383	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15	0			2:55462084
SLC22A8	9376	broad.mit.edu	37	11	62760741	62760741	+	Nonsense_Mutation	SNP	G	G	A	rs201498461		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:62760741G>A	ENST00000336232.2	-	11	1732	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442*|SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	533					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCGTGAGGCTGTAGAGGGATC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18926	0.0		0.001	False		,,,				2504	0.0					ENST00000336232.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1597-1599)Cag>Tag		solute carrier family 22 (organic anion transporter), member 8							55.0	54.0	54.0					11																	62760741		2201	4298	6499	SO:0001587	stop_gained	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760741G>A	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1597C>T	11.37:g.62760741G>A	ENSP00000337335:p.Gln533*	False	False		Somatic	0				SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*|SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*	p.Q533*	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	WXS	Illumina HiSeq	Phase_I	Q8TCC7	S22A8_HUMAN			11	1732	-			533					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Nonsense_Mutation	SNP	ENST00000336232.2	37	c.1597C>T	CCDS8042.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.2	3.942501	0.73672	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500	.	.	.	5.26	3.29	0.37713	.	0.598101	0.15881	N	0.240067	.	.	.	.	.	.	0.36702	D	0.880157	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	10.4632	0.44592	0.0:0.0:0.5628:0.4372	.	.	.	.	X	533;519;442;410;533	.	ENSP00000337335:Q533X	Q	-	1	0	SLC22A8	62517317	0.970000	0.33590	0.889000	0.34880	0.520000	0.34377	1.273000	0.33121	0.615000	0.30124	0.561000	0.74099	CAG		0.607	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	0	NM_004254		11:62760741
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:70332827C>T	ENST00000423696.2	-	15	2470	c.2434G>A	c.(2434-2436)Gcg>Acg	p.A812T	SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1192T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					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)			CCGCTGCTCGCGGAGGGCACT	0.706																																						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.(3574-3576)Gcg>Acg		SH3 and multiple ankyrin repeat domains 2							20.0	26.0	24.0					11																	70332827		2192	4290	6482	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.chr11:70332827C>T	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.2434G>A	11.37:g.70332827C>T	ENSP00000394536:p.Ala812Thr	False	False		Somatic	0				SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A812T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T	p.A1192T			WXS	Illumina HiSeq	Phase_I	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3573	-			812					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3574G>A		.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777281	0.00640	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	3.62	1.14	0.20703	.	1.993000	0.03565	N	0.227639	T	0.30293	0.0760	L	0.29908	0.895	0.27447	N	0.953541	B;B;B	0.17667	0.008;0.023;0.023	B;B;B	0.08055	0.001;0.002;0.003	T	0.13791	-1.0496	10	0.20046	T	0.44	.	5.831	0.18581	0.0:0.0901:0.3193:0.5906	.	812;1191;596	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	596;595;470;1192;812;830;815	ENSP00000399423:A596T;ENSP00000386491:A595T;ENSP00000402944:A470T;ENSP00000345193:A1192T;ENSP00000394536:A812T;ENSP00000294018:A815T	ENSP00000294018:A815T	A	-	1	0	SHANK2	70010475	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	1.432000	0.34936	-0.061000	0.13110	-0.340000	0.08031	GCG		0.706	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	NM_012309		11:70332827
MED12	9968	broad.mit.edu	37	X	70360666	70360666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:70360666C>T	ENST00000374080.3	+	42	6258	c.6226C>T	c.(6226-6228)Cag>Tag	p.Q2076*	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_Nonsense_Mutation_p.Q2079*|MED12_ENST00000374102.1_Nonsense_Mutation_p.Q2075*			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcagcagcagcagtaccacat	0.597			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6		NA		Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6235-6237)Cag>Tag		mediator complex subunit 12							19.0	21.0	20.0					X																	70360666		2166	4155	6321	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360666C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6226C>T	X.37:g.70360666C>T	ENSP00000363193:p.Gln2076*	True	False		Somatic	0				MED12_ENST00000374080.3_Nonsense_Mutation_p.Q2076*|MED12_ENST00000374102.1_Nonsense_Mutation_p.Q2075*	p.Q2079*	NM_005120.2	NP_005111.2	WXS	Illumina HiSeq	Phase_I	Q93074	MED12_HUMAN			42	6434	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.6235C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	44	10.560748	0.99428	.	.	ENSG00000184634	ENST00000333646;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.34	4.34	0.51931	.	0.682312	0.14667	N	0.305591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-1.2004	8.6741	0.34167	0.2269:0.7731:0.0:0.0	.	.	.	.	X	2079;2075;2076;2026;824	.	ENSP00000333125:Q2079X	Q	+	1	0	MED12	70277391	1.000000	0.71417	0.997000	0.53966	0.479000	0.33129	3.485000	0.53208	1.994000	0.58287	0.544000	0.68410	CAG		0.597	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	0	NM_005120		X:70360666
FAM13A	10144	broad.mit.edu	37	4	89950680	89950680	+	Missense_Mutation	SNP	G	G	A	rs114435452	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:89950680G>A	ENST00000264344.5	-	2	355	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W|FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000511976.1_De_novo_Start_InFrame	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	50	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGCCCCTGCCGTTCAAGTTCT	0.418													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.001					ENST00000264344.5		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(148-150)Cgg>Tgg		family with sequence similarity 13, member A		G	TRP/ARG	12,4394	19.1+/-41.9	0,12,2191	161.0	163.0	162.0		148	3.3	0.2	4	dbSNP_132	162	0,8600		0,0,4300	yes	missense	FAM13A	NM_014883.2	101	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign	50/1024	89950680	12,12994	2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89950680G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.148C>T	4.37:g.89950680G>A	ENSP00000264344:p.Arg50Trp	False	False		Somatic	0				FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000511976.1_De_novo_Start_InFrame|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W	p.R50W	NM_014883.3	NP_055698.2	WXS	Illumina HiSeq	Phase_I	O94988	FA13A_HUMAN			2	355	-			50			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.148C>T	CCDS34029.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.85	2.955573	0.53293	0.002724	0.0	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.12	3.28	0.37604	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.769691	0.11970	N	0.511820	T	0.42765	0.1217	M	0.68317	2.08	0.27130	N	0.961917	D;P	0.62365	0.991;0.482	P;B	0.44860	0.462;0.007	T	0.35943	-0.9768	9	.	.	.	.	7.72	0.28727	0.085:0.0:0.7527:0.1623	.	50;50	Q6P521;O94988	.;FA13A_HUMAN	W	50;50;50;60	ENSP00000264344:R50W;ENSP00000426517:R50W;ENSP00000422345:R50W;ENSP00000421269:R60W	.	R	-	1	2	FAM13A	90169703	0.953000	0.32496	0.250000	0.24296	0.018000	0.09664	2.839000	0.48207	1.323000	0.45263	0.655000	0.94253	CGG		0.418	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1	0			4:89950680
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5		NA																	2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu	False	False		Somatic	0					p.G487E	NM_001137671.1	NP_001131143.1	WXS	Illumina HiSeq	Phase_I	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	0	XM_496269		18:14513734
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637																																						ENST00000291592.4		NA																	0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(766-768)ggG>ggT		leucine rich repeat containing 3							17.0	22.0	20.0					21																	45877295		2134	4179	6313	SO:0001819	synonymous_variant	81543					integral to membrane	protein binding	g.chr21:45877295G>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.768G>T	21.37:g.45877295G>T		True	False		Somatic	0					p.G256G	NM_030891.3	NP_112153.1	WXS	Illumina HiSeq	Phase_I	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	1085	+		Breast(209;0.00908)	256					Q0VDJ2	Silent	SNP	ENST00000291592.4	37	c.768G>T	CCDS13711.1																																																																																				0.637	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3	0			21:45877295
SUGCT	79783	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:40899974G>A	ENST00000335693.4	+	14	1257	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000309930.5_Missense_Mutation_p.G438R	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567																																						ENST00000309930.5		NA																	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1312-1314)Ggg>Agg		chromosome 7 open reading frame 10							99.0	110.0	106.0					7																	40899974		2104	4227	6331	SO:0001583	missense	79783						transferase activity	g.chr7:40899974G>A																												ENST00000335693.4:c.1234G>A	7.37:g.40899974G>A	ENSP00000338475:p.Gly412Arg	True	False		Somatic	0				C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R|C7orf10_ENST00000464028.1_3'UTR	p.G438R	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina HiSeq	Phase_I	Q9HAC7	CG010_HUMAN			15	1336	+			412					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1312G>A	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637058	0.87760	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.96396	-4.0;-1.11;-1.11	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.275863	0.34484	N	0.003935	D	0.98689	0.9560	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.99593	1.0976	10	0.87932	D	0	-10.9205	18.9884	0.92782	0.0:0.0:1.0:0.0	.	364;412;401	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	R	438;364;412	ENSP00000312054:G438R;ENSP00000385222:G364R;ENSP00000338475:G412R	ENSP00000312054:G438R	G	+	1	0	C7orf10	40866499	1.000000	0.71417	0.988000	0.46212	0.858000	0.48976	6.455000	0.73497	2.575000	0.86900	0.655000	0.94253	GGG		0.567	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	0			7:40899974
ASPM	259266	broad.mit.edu	37	1	197062202	197062202	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:197062202C>T	ENST00000367409.4	-	21	9530	c.9274G>A	c.(9274-9276)Ggt>Agt	p.G3092S	ASPM_ENST00000367408.1_Missense_Mutation_p.G757S|ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3092	IQ 37. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTAGCCAACCACGCACCAGT	0.323																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9274-9276)Ggt>Agt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							76.0	76.0	76.0					1																	197062202		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062202C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9274G>A	1.37:g.197062202C>T	ENSP00000356379:p.Gly3092Ser	False	False		Somatic	0				ASPM_ENST00000367408.1_Missense_Mutation_p.G757S|ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S	p.G3092S	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			21	9530	-			3092			IQ 37.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9274G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887516	0.91814	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.42513	0.97;0.97;0.97	5.28	5.28	0.74379	.	0.059343	0.64402	D	0.000004	T	0.65417	0.2689	M	0.77103	2.36	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.79108	0.992;0.987;0.893	T	0.66787	-0.5835	10	0.46703	T	0.11	.	16.0593	0.80830	0.0:1.0:0.0:0.0	.	1078;1507;3092	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	S	3092;1507;757;1078	ENSP00000356379:G3092S;ENSP00000294732:G1507S;ENSP00000356378:G757S	ENSP00000294732:G1507S	G	-	1	0	ASPM	195328825	0.938000	0.31826	1.000000	0.80357	0.988000	0.76386	1.931000	0.40134	2.447000	0.82792	0.655000	0.94253	GGT		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197062202
ZNF134	7693	broad.mit.edu	37	19	58131705	58131705	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58131705A>G	ENST00000396161.5	+	3	528	c.218A>G	c.(217-219)cAt>cGt	p.H73R	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGTACACACCATGGACTGAAA	0.488																																						ENST00000396161.5		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(217-219)cAt>cGt		zinc finger protein 134							107.0	104.0	105.0					19																	58131705		2043	4224	6267	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131705A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.218A>G	19.37:g.58131705A>G	ENSP00000379464:p.His73Arg	False	False		Somatic	0				ZNF134_ENST00000597975.1_3'UTR	p.H73R	NM_003435.3	NP_003426.3	WXS	Illumina HiSeq	Phase_I	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	528	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	73					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.218A>G	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	9.039	0.989204	0.18966	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.19394	2.15	4.05	-1.24	0.09435	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	N	0.21583	0.68	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.34403	-0.9830	9	0.87932	D	0	.	0.8496	0.01169	0.3547:0.262:0.0975:0.2858	.	73	P52741	ZN134_HUMAN	R	140;73	ENSP00000379464:H73R	ENSP00000379464:H73R	H	+	2	0	ZNF134	62823517	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	-1.220000	0.02971	-0.103000	0.12175	0.533000	0.62120	CAT		0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	0	NM_003435		19:58131705
LRRC14	9684	broad.mit.edu	37	8	145741394	145741394	+	5'Flank	SNP	C	C	A	rs377494266		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:145741394C>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.R370L|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGCCTGCTACGGAGTGCCCG	0.642																																						ENST00000428558.2		NA								"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1108-1110)cGt>cTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							30.0	36.0	34.0					8																	145741394		2071	4187	6258	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741394C>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741394C>A	Exception_encountered	False	False		Somatic	0				RECQL4_ENST00000532237.1_5'UTR	p.R370L	NM_004260.3	NP_004251.3	WXS	Illumina HiSeq	Phase_I	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1150	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		370					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1109G>T	CCDS6432.1																																																																																				0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	0	NM_014665		8:145741394
ANKRD11	29123	broad.mit.edu	37	16	89346134	89346134	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:89346134G>A	ENST00000301030.4	-	9	7276	c.6816C>T	c.(6814-6816)gaC>gaT	p.D2272D	ANKRD11_ENST00000378330.2_Silent_p.D2272D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2272	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGCGGGGCCGTCAGGGGCAC	0.756																																						ENST00000301030.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6814-6816)gaC>gaT		ankyrin repeat domain 11							3.0	4.0	4.0					16																	89346134		1365	3065	4430	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89346134G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6816C>T	16.37:g.89346134G>A		False	False		Somatic	0				ANKRD11_ENST00000378330.2_Silent_p.D2272D	p.D2272D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina HiSeq	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7276	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2272			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.6816C>T	CCDS32513.1																																																																																				0.756	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	NM_013275		16:89346134
IMPAD1	54928	broad.mit.edu	37	8	57905955	57905955	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:57905955G>C	ENST00000262644.4	-	1	448	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	64					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741																																						ENST00000262644.4		NA																	0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(190-192)Cgc>Ggc		inositol monophosphatase domain containing 1							19.0	19.0	19.0					8																	57905955		2194	4291	6485	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905955G>C		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.190C>G	8.37:g.57905955G>C	ENSP00000262644:p.Arg64Gly	False	False		Somatic	0					p.R64G	NM_017813.4	NP_060283.3	WXS	Illumina HiSeq	Phase_I	Q9NX62	IMPA3_HUMAN			1	448	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	64					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.190C>G	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819807	0.50633	.	.	ENSG00000104331	ENST00000262644	T	0.52983	0.64	5.05	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.61898	-0.6968	10	0.37606	T	0.19	-0.0018	6.9727	0.24658	0.0931:0.0:0.7402:0.1667	.	64	Q9NX62	IMPA3_HUMAN	G	64	ENSP00000262644:R64G	ENSP00000262644:R64G	R	-	1	0	IMPAD1	58068509	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.892000	0.56235	1.023000	0.39654	-0.378000	0.06908	CGC		0.741	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	0	NM_017813		8:57905955
TUBGCP6	85378	broad.mit.edu	37	22	50664531	50664531	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:50664531T>C	ENST00000248846.5	-	9	1885	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.D594G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	594					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACGTATATGTCGTGGGCAAT	0.557																																						ENST00000439308.2		NA																	0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1780-1782)gAc>gGc		tubulin, gamma complex associated protein 6							249.0	236.0	241.0					22																	50664531		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664531T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1781A>G	22.37:g.50664531T>C	ENSP00000248846:p.Asp594Gly	False	False		Somatic	0				TUBGCP6_ENST00000248846.5_Missense_Mutation_p.D594G|TUBGCP6_ENST00000491449.1_5'UTR	p.D594G	NM_020461.3	NP_065194.2	WXS	Illumina HiSeq	Phase_I	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	9	2273	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	594					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1781A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010753	0.75046	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08807	3.05;3.05	5.04	5.04	0.67666	.	0.109872	0.64402	N	0.000010	T	0.26122	0.0637	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00802	-1.1560	10	0.62326	D	0.03	.	14.7674	0.69648	0.0:0.0:0.0:1.0	.	594;594	B2RWN4;Q96RT7	.;GCP6_HUMAN	G	594	ENSP00000248846:D594G;ENSP00000397387:D594G	ENSP00000248846:D594G	D	-	2	0	TUBGCP6	49006658	1.000000	0.71417	0.991000	0.47740	0.435000	0.31806	7.905000	0.87416	1.906000	0.55180	0.379000	0.24179	GAC		0.557	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	0	NM_020461		22:50664531
TNFRSF1B	7133	broad.mit.edu	37	1	12262126	12262126	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:12262126G>T	ENST00000376259.3	+	9	1092	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	335					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GGAGAGCTCGGCCAGTGCGTT	0.706																																						ENST00000376259.3		NA																	0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1003-1005)Gcc>Tcc		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						11.0	14.0	13.0					1																	12262126		2194	4288	6482	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12262126G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1003G>T	1.37:g.12262126G>T	ENSP00000365435:p.Ala335Ser	False	False		Somatic	0				TNFRSF1B_ENST00000492361.1_3'UTR	p.A335S	NM_001066.2	NP_001057.1	WXS	Illumina HiSeq	Phase_I	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	9	1092	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	335					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.1003G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428595	0.43122	.	.	ENSG00000028137	ENST00000376259	D	0.87029	-2.2	4.76	2.74	0.32292	.	2.391520	0.01257	N	0.009056	D	0.85839	0.5790	M	0.67953	2.075	0.09310	N	0.999997	P	0.42908	0.793	B	0.38842	0.283	T	0.70718	-0.4795	10	0.32370	T	0.25	-19.0182	7.1672	0.25698	0.1003:0.1731:0.7265:0.0	.	335	P20333	TNR1B_HUMAN	S	335	ENSP00000365435:A335S	ENSP00000365435:A335S	A	+	1	0	TNFRSF1B	12184713	0.448000	0.25681	0.930000	0.37139	0.708000	0.40852	1.783000	0.38664	1.123000	0.41961	0.561000	0.74099	GCC		0.706	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	0	NM_001066		1:12262126
SYNE2	23224	broad.mit.edu	37	14	64580216	64580216	+	Missense_Mutation	SNP	A	A	G	rs552966507		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:64580216A>G	ENST00000344113.4	+	66	12979	c.12767A>G	c.(12766-12768)aAc>aGc	p.N4256S	SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N641S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4256					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAACAAGCCAACGTGGCAGTT	0.577																																						ENST00000357395.3		NA																	0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1921-1923)aAc>aGc		spectrin repeat containing, nuclear envelope 2							36.0	34.0	35.0					14																	64580216		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64580216A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12767A>G	14.37:g.64580216A>G	ENSP00000341781:p.Asn4256Ser	False	False		Somatic	0				SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|SYNE2_ENST00000344113.4_Missense_Mutation_p.N4256S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S	p.N641S			WXS	Illumina HiSeq	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	67	13066	+			4256					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1922A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904349	0.33628	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.56611	0.84;4.14;0.84;0.45;4.19;4.14	5.73	0.724	0.18236	.	0.494042	0.20205	N	0.097004	T	0.37758	0.1015	L	0.32530	0.975	0.80722	D	1	B;B;B	0.23377	0.004;0.051;0.084	B;B;B	0.18561	0.008;0.01;0.022	T	0.10989	-1.0606	10	0.46703	T	0.11	.	9.7131	0.40258	0.7534:0.0:0.2466:0.0	.	641;4256;4256	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	S	4256;641;4256;4271;4271;890;641;148	ENSP00000350719:N4256S;ENSP00000349969:N641S;ENSP00000341781:N4256S;ENSP00000452570:N4271S;ENSP00000450831:N890S;ENSP00000378249:N641S	ENSP00000261678:N4271S	N	+	2	0	SYNE2	63649969	0.765000	0.28485	0.998000	0.56505	0.999000	0.98932	0.068000	0.14531	-0.097000	0.12307	0.533000	0.62120	AAC		0.577	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	NM_182914		14:64580216
MDN1	23195	broad.mit.edu	37	6	90448153	90448153	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:90448153G>A	ENST00000369393.3	-	33	4730	c.4615C>T	c.(4615-4617)Cgg>Tgg	p.R1539W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1539					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGTAAACCGGTTTCTTAAG	0.378																																						ENST00000369393.3		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4615-4617)Cgg>Tgg		MDN1, midasin homolog (yeast)							81.0	80.0	81.0					6																	90448153		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90448153G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4615C>T	6.37:g.90448153G>A	ENSP00000358400:p.Arg1539Trp	False	False		Somatic	0				MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W	p.R1539W			WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	33	4730	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1539					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4615C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138698	0.56936	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.73897	-0.79;-0.79	5.62	3.62	0.41486	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.063133	0.64402	D	0.000010	D	0.89238	0.6658	H	0.99573	4.635	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90061	0.4156	10	0.87932	D	0	.	7.7774	0.29046	0.0:0.1127:0.487:0.4003	.	1539	Q9NU22	MDN1_HUMAN	W	1539	ENSP00000358400:R1539W;ENSP00000413970:R1539W	ENSP00000358400:R1539W	R	-	1	2	MDN1	90504874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.095000	0.50235	1.340000	0.45581	0.557000	0.71058	CGG		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0			6:90448153
SPTA1	6708	broad.mit.edu	37	1	158631116	158631116	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:158631116G>C	ENST00000368147.4	-	18	2728	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	850					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTATCTCTTGAATGCGTGGT	0.443																																						ENST00000368147.4		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2548-2550)Caa>Gaa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							262.0	255.0	258.0					1																	158631116		1934	4151	6085	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631116G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2548C>G	1.37:g.158631116G>C	ENSP00000357129:p.Gln850Glu	False	False		Somatic	0					p.Q850E	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			18	2728	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2548C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	0.767	-0.767128	0.02974	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.30448	1.53;1.53	4.81	3.88	0.44766	.	.	.	.	.	T	0.08223	0.0205	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.32561	-0.9902	9	0.09590	T	0.72	.	10.6579	0.45686	0.0:0.0:0.5318:0.4682	.	850	P02549	SPTA1_HUMAN	E	850	ENSP00000357130:Q850E;ENSP00000357129:Q850E	ENSP00000357129:Q850E	Q	-	1	0	SPTA1	156897740	0.819000	0.29175	0.012000	0.15200	0.057000	0.15508	2.290000	0.43531	1.197000	0.43143	0.650000	0.86243	CAA		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158631116
ZNF442	79973	broad.mit.edu	37	19	12462842	12462842	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12462842T>C	ENST00000242804.4	-	5	830	c.248A>G	c.(247-249)aAt>aGt	p.N83S	ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CCTCCTGGGATTTCTGTGCTG	0.358																																						ENST00000242804.4		NA																	0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(247-249)aAt>aGt		zinc finger protein 442							133.0	122.0	126.0					19																	12462842		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12462842T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.248A>G	19.37:g.12462842T>C	ENSP00000242804:p.Asn83Ser	True	False		Somatic	0				ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S	p.N83S	NM_030824.2	NP_110451.1	WXS	Illumina HiSeq	Phase_I	Q9H7R0	ZN442_HUMAN			5	830	-			83			KRAB.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.248A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573187	0.28092	.	.	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	T;T;T	0.06371	3.41;3.31;3.99	1.51	1.51	0.23008	Krueppel-associated box (3);	.	.	.	.	T	0.02970	0.0088	N	0.13327	0.33	0.09310	N	1	P	0.36616	0.561	B	0.32864	0.154	T	0.43589	-0.9382	9	0.14656	T	0.56	.	5.4007	0.16295	0.0:0.0:0.0:1.0	.	83	Q9H7R0	ZN442_HUMAN	S	83;14;14	ENSP00000242804:N83S;ENSP00000388634:N14S;ENSP00000404935:N14S	ENSP00000242804:N83S	N	-	2	0	ZNF442	12323842	0.003000	0.15002	0.232000	0.24009	0.613000	0.37349	0.306000	0.19279	0.617000	0.30160	0.260000	0.18958	AAT		0.358	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	0	NM_030824		19:12462842
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		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.chr12:25398285C>G	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	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	225	-	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.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		12:25398285
TRPA1	8989	broad.mit.edu	37	8	72969219	72969219	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:72969219C>T	ENST00000262209.4	-	10	1334	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	376					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAAAATTACGTCCAAAATT	0.299																																						ENST00000262209.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1126-1128)cGt>cAt		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						39.0	39.0	39.0					8																	72969219		2200	4295	6495	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72969219C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1127G>A	8.37:g.72969219C>T	ENSP00000262209:p.Arg376His	False	False		Somatic	0					p.R376H	NM_007332.2	NP_015628.2	WXS	Illumina HiSeq	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		10	1334	-			376					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1127G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860578	0.71834	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.54479	0.57;2.37	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.048019	0.85682	D	0.000000	T	0.53126	0.1777	M	0.62723	1.935	0.58432	D	0.999997	B	0.18310	0.027	B	0.17098	0.017	T	0.47983	-0.9074	10	0.21014	T	0.42	-18.244	19.8051	0.96529	0.0:1.0:0.0:0.0	.	376	O75762	TRPA1_HUMAN	H	228;376	ENSP00000428151:R228H;ENSP00000262209:R376H	ENSP00000262209:R376H	R	-	2	0	TRPA1	73131773	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.639000	0.74314	2.691000	0.91804	0.585000	0.79938	CGT		0.299	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	0	NM_007332		8:72969219
TAP2	6891	broad.mit.edu	37	6	32800563	32800563	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:32800563C>T	ENST00000452392.2	-	6	1157	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TAP2_ENST00000374899.4_Silent_p.A328A|TAP2_ENST00000374897.2_Silent_p.A328A|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A328A(1)								Vitamin E(DB00163)	CCACCTGCCCCGCCCTGGCCA	0.592																																						ENST00000374897.2		NA																	1	Substitution - coding silent(1)	p.A328A(1)	large_intestine(1)		NA						c.(982-984)gcG>gcA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							60.0	62.0	61.0					6																	32800563		1509	2709	4218	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800563C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.984G>A	6.37:g.32800563C>T		True	False		Somatic	0				TAP2_ENST00000452392.2_Silent_p.A328A|TAP2_ENST00000374899.4_Silent_p.A328A	p.A328A	NM_000544.3	NP_000535.3	WXS	Illumina HiSeq	Phase_I	Q03519	TAP2_HUMAN			6	1115	-			328			ABC transmembrane type-1.|Involved in peptide-binding site.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.984G>A																																																																																					0.592	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	0	NM_000544		6:32800563
TXNIP	10628	broad.mit.edu	37	1	145440118	145440118	+	Silent	SNP	T	T	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145440118T>A	ENST00000369317.4	+	4	886	c.552T>A	c.(550-552)atT>atA	p.I184I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	184					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTCGAATTGACAGAAAAG	0.448																																						ENST00000369317.4		NA																	0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(550-552)atT>atA		thioredoxin interacting protein							148.0	162.0	157.0					1																	145440118		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440118T>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.552T>A	1.37:g.145440118T>A		False	False		Somatic	0				TXNIP_ENST00000475171.1_Intron	p.I184I	NM_006472.3	NP_006463.3	WXS	Illumina HiSeq	Phase_I	Q9H3M7	TXNIP_HUMAN			4	886	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		184					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.552T>A	CCDS913.1																																																																																				0.448	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	0	NM_006472		1:145440118
WDR34	89891	broad.mit.edu	37	9	131403176	131403176	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:131403176C>T	ENST00000372715.2	-	2	289	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	77						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGGCCTGGGCGGATGCACTG	0.652																																						ENST00000372715.2		NA																	0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(229-231)Gcc>Acc		WD repeat domain 34							37.0	40.0	39.0					9																	131403176		2203	4299	6502	SO:0001583	missense	89891					cytoplasm		g.chr9:131403176C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.229G>A	9.37:g.131403176C>T	ENSP00000361800:p.Ala77Thr	True	False		Somatic	0					p.A77T	NM_052844.3	NP_443076.2	WXS	Illumina HiSeq	Phase_I	Q96EX3	WDR34_HUMAN			2	289	-			77					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.229G>A	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	6.909	0.537276	0.13188	.	.	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T	0.61980	0.06	5.4	-3.5	0.04710	.	1.250360	0.05511	N	0.560229	T	0.42653	0.1212	L	0.37630	1.12	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.06405	0.002;0.002	T	0.28650	-1.0037	10	0.06365	T	0.9	.	5.4964	0.16805	0.2163:0.3838:0.0:0.3999	.	62;77	A2A3F8;Q96EX3	.;WDR34_HUMAN	T	77;68;62	ENSP00000361800:A77T	ENSP00000361800:A77T	A	-	1	0	WDR34	130442997	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.250000	0.08830	-0.472000	0.06881	-0.140000	0.14226	GCC		0.652	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	0	NM_052844		9:131403176
SLC29A2	3177	broad.mit.edu	37	11	66130881	66130881	+	3'UTR	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:66130881C>A	ENST00000357440.2	-	0	1625				SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000544554.1_3'UTR|SLC29A2_ENST00000546034.1_3'UTR|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.L44M|RP11-867G23.8_ENST00000580881.1_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2						cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.L44M(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CGAGAAGAGGCTGCCAAAGAG	0.642																																						ENST00000531602.1		NA																	1	Substitution - Missense(1)	p.L44M(1)	kidney(1)	kidney(1)	1						c.(130-132)Ctg>Atg									42.0	39.0	40.0					11																	66130881		2192	4293	6485	SO:0001624	3_prime_UTR_variant	0							g.chr11:66130881C>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.*26G>T	11.37:g.66130881C>A		False	False		Somatic	0				SLC29A2_ENST00000357440.2_3'UTR|SLC29A2_ENST00000546034.1_3'UTR|SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000544554.1_3'UTR|RP11-867G23.8_ENST00000580881.1_Intron	p.L44M			WXS	Illumina HiSeq	Phase_I					2	263	+			NA					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.130C>A	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	6.121	0.390492	0.11581	.	.	ENSG00000255468	ENST00000531602	.	.	.	3.61	-0.912	0.10504	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38394	-0.9663	5	0.87932	D	0	.	3.0762	0.06247	0.407:0.3684:0.0:0.2246	.	.	.	.	M	44	.	ENSP00000435142:L44M	L	+	1	2	RP11-867G23.8	65887457	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	-0.267000	0.08619	-0.274000	0.09232	-0.302000	0.09304	CTG		0.642	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	0	NM_001532		11:66130881
EZR	7430	broad.mit.edu	37	6	159197482	159197482	+	Silent	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159197482A>G	ENST00000367075.3	-	8	921	c.753T>C	c.(751-753)aaT>aaC	p.N251N	EZR_ENST00000392177.4_Silent_p.N219N|EZR_ENST00000337147.7_Silent_p.N251N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	251	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTTTTGTCATTGAAAGAGA	0.378			T	ROS1	NSCLC																																	ENST00000367075.3		NA		Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(751-753)aaT>aaC		ezrin							129.0	128.0	129.0					6																	159197482		2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159197482A>G	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.753T>C	6.37:g.159197482A>G		False	False		Somatic	0				EZR_ENST00000337147.7_Silent_p.N251N|EZR_ENST00000392177.4_Silent_p.N219N	p.N251N	NM_001111077.1	NP_001104547.1	WXS	Illumina HiSeq	Phase_I	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	8	921	-		Breast(66;0.000776)|Ovarian(120;0.0303)	251			FERM.|Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.753T>C	CCDS5258.1																																																																																				0.378	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	0	NM_003379		6:159197482
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						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.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	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.984T>C	19.37:g.9090831A>G		True	False		Somatic	0					p.P328P	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9090831
LAMA4	3910	broad.mit.edu	37	6	112486440	112486440	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:112486440C>T	ENST00000230538.7	-	13	1987	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	LAMA4_ENST00000389463.4_Silent_p.V523V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.V523V|LAMA4_ENST00000522006.1_Silent_p.V523V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	530	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGACATGTTCACCACTTCCA	0.453																																						ENST00000230538.7		NA																	0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1588-1590)gtG>gtA		laminin, alpha 4							194.0	167.0	176.0					6																	112486440		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486440C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1590G>A	6.37:g.112486440C>T		False	False		Somatic	0				LAMA4_ENST00000389463.4_Silent_p.V523V|LAMA4_ENST00000424408.2_Silent_p.V523V|LAMA4_ENST00000522006.1_Silent_p.V523V|RP1-142L7.5_ENST00000585373.1_RNA	p.V530V	NM_001105206.2	NP_001098676.2	WXS	Illumina HiSeq	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	1987	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	530			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1590G>A	CCDS43491.1																																																																																				0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	NM_001105206		6:112486440
FAM179A	165186	broad.mit.edu	37	2	29274886	29274886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:29274886G>A	ENST00000379558.4	+	20	3338	c.2987G>A	c.(2986-2988)cGc>cAc	p.R996H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	996										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGCAGCCGCAAGGCCACT	0.557																																						ENST00000379558.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2986-2988)cGc>cAc		family with sequence similarity 179, member A							23.0	25.0	24.0					2																	29274886		1906	4125	6031	SO:0001583	missense	165186						binding	g.chr2:29274886G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2987G>A	2.37:g.29274886G>A	ENSP00000368876:p.Arg996His	False	False		Somatic	0				FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H|FAM179A_ENST00000465300.1_3'UTR	p.R996H	NM_199280.2	NP_954974.2	WXS	Illumina HiSeq	Phase_I	Q6ZUX3	F179A_HUMAN			20	3338	+			996					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2987G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857506	0.17106	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.09817	3.12;2.94	5.68	-11.4	0.00090	.	3.053280	0.00954	N	0.003001	T	0.02929	0.0087	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36065	-0.9763	10	0.30078	T	0.28	.	4.172	0.10334	0.1668:0.2241:0.4866:0.1225	.	941;996	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	996;941	ENSP00000368876:R996H;ENSP00000384699:R941H	ENSP00000368876:R996H	R	+	2	0	FAM179A	29128390	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.423000	0.02450	-2.378000	0.00596	-1.904000	0.00526	CGC		0.557	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	0	NM_199280		2:29274886
SRCAP	10847	broad.mit.edu	37	16	30723229	30723229	+	Silent	SNP	A	A	G	rs527648472		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:30723229A>G	ENST00000262518.4	+	12	1951	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	522	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAAGTTCAGCATCAGAGGAAT	0.483																																						ENST00000262518.4		NA																	0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1564-1566)gcA>gcG		Snf2-related CREBBP activator protein							79.0	77.0	78.0					16																	30723229		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723229A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1566A>G	16.37:g.30723229A>G		False	False		Somatic	0				SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A	p.A522A	NM_006662.2	NP_006653.2	WXS	Illumina HiSeq	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		12	1951	+			522			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.1566A>G	CCDS10689.2																																																																																				0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	NM_006662		16:30723229
RPH3A	22895	broad.mit.edu	37	12	113303278	113303278	+	Missense_Mutation	SNP	G	G	A	rs199724124		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:113303278G>A	ENST00000389385.4	+	6	787	c.290G>A	c.(289-291)cGc>cAc	p.R97H	RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	97	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGGTGAACCGCTGCATACTG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21421	0.0		0.001	False		,,,				2504	0.0					ENST00000389385.4		NA																	0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(289-291)cGc>cAc		rabphilin 3A homolog (mouse)							199.0	173.0	182.0					12																	113303278		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113303278G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.290G>A	12.37:g.113303278G>A	ENSP00000374036:p.Arg97His	False	False		Somatic	0				RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H	p.R97H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	WXS	Illumina HiSeq	Phase_I	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	6	787	+			97			RabBD.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.290G>A	CCDS44979.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	25.2	4.613988	0.87359	.	.	ENSG00000089169	ENST00000548197;ENST00000543106;ENST00000551593;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.61	5.61	0.85477	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000006	T	0.78811	0.4342	L	0.35487	1.065	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	P;P;P;P	0.60173	0.87;0.605;0.605;0.778	T	0.79293	-0.1863	10	0.51188	T	0.08	.	18.4097	0.90548	0.0:0.0:1.0:0.0	.	48;97;97;93	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	97;97;97;97;97;97;97;97;48;30;97;93;97;97;48;97	ENSP00000446570:R97H;ENSP00000440384:R97H;ENSP00000446780:R97H;ENSP00000450382:R97H;ENSP00000449613:R97H;ENSP00000447505:R97H;ENSP00000449650:R97H;ENSP00000374036:R97H;ENSP00000413254:R48H;ENSP00000448100:R30H;ENSP00000447083:R97H;ENSP00000448297:R93H;ENSP00000405357:R97H;ENSP00000450216:R97H;ENSP00000450347:R48H;ENSP00000408889:R97H	ENSP00000374036:R97H	R	+	2	0	RPH3A	111787661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.191000	0.77763	2.631000	0.89168	0.655000	0.94253	CGC		0.522	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	0	NM_014954		12:113303278
KDM2A	22992	broad.mit.edu	37	11	67018096	67018096	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:67018096G>A	ENST00000529006.2	+	17	3041	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	KDM2A_ENST00000530342.1_Silent_p.E426E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	865					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaggaggaagaTGACA	0.667																																						ENST00000529006.2		NA																	0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2593-2595)gaG>gaA		lysine (K)-specific demethylase 2A							29.0	36.0	34.0					11																	67018096		2135	4228	6363	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018096G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2595G>A	11.37:g.67018096G>A		True	False		Somatic	0				KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.E426E|KDM2A_ENST00000526258.1_3'UTR	p.E865E	NM_012308.2	NP_036440.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K7	KDM2A_HUMAN			17	3041	+			865					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2595G>A	CCDS44657.1																																																																																				0.667	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	0	NM_012308		11:67018096
CYP4F11	57834	broad.mit.edu	37	19	16024638	16024638	+	Silent	SNP	C	C	T	rs143714626		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:16024638C>T	ENST00000402119.4	-	12	1905	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Silent_p.P168P|CYP4F11_ENST00000248041.8_Silent_p.P493P	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAGTGTGGGTCGGCAGGATGC	0.627													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15878	0.0		0.0	False		,,,				2504	0.0					ENST00000402119.4		NA																	0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1477-1479)ccG>ccA		cytochrome P450, family 4, subfamily F, polypeptide 11		C	,	6,4400	11.4+/-27.6	0,6,2197	66.0	59.0	62.0		1479,1479	-5.5	0.0	19	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CYP4F11	NM_001128932.1,NM_021187.3	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	493/525,493/525	16024638	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024638C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1479G>A	19.37:g.16024638C>T		False	False		Somatic	0				CYP4F11_ENST00000591841.1_Silent_p.P168P|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Silent_p.P493P	p.P493P	NM_021187.3	NP_067010.3	WXS	Illumina HiSeq	Phase_I	Q9HBI6	CP4FB_HUMAN			12	1905	-			NA						Silent	SNP	ENST00000402119.4	37	c.1479G>A	CCDS12337.1																																																																																				0.627	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	0	NM_021187		19:16024638
TTN	7273	broad.mit.edu	37	2	179614657	179614657	+	Intron	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:179614657G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P4157R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CATTTTTGGTGGTTCATTAGT	0.388																																						ENST00000360870.5		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.(12469-12471)cCa>cGa		titin							75.0	80.0	79.0					2																	179614657		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614657G>C	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.10360+3193C>G	2.37:g.179614657G>C		False	False		Somatic	0				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.P4157R	NM_133379.3	NP_596870.2	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12692	-			3502					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.12470C>G		.	.	.	.	.	.	.	.	.	.	G	15.78	2.934167	0.52866	.	.	ENSG00000155657	ENST00000360870	T	0.63913	-0.07	5.84	5.84	0.93424	.	.	.	.	.	T	0.67785	0.2930	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.70594	-0.4829	9	0.87932	D	0	.	15.2925	0.73875	0.0687:0.0:0.9313:0.0	.	4157	Q8WZ42-6	.	R	4157	ENSP00000354117:P4157R	ENSP00000354117:P4157R	P	-	2	0	TTN	179322902	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	5.415000	0.66411	2.765000	0.95021	0.655000	0.94253	CCA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179614657
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						ENST00000297307.5		NA																	4	Substitution - Missense(4)	p.R335K(4)	lung(2)|urinary_tract(1)|prostate(1)		NA						c.(1003-1005)aGg>aAg		solute carrier family 35, member G3							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys	True	False		Somatic	0					p.R335K	NM_152462.2	NP_689675.1	WXS	Illumina HiSeq	Phase_I	Q8N808	AMAC1_HUMAN			1	1089	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	0	NM_152462		17:33520323
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:33947401G>A	ENST00000296589.4	-	6	1381	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000382102.3_Missense_Mutation_p.T412M	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	412					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3		NA																	1	Substitution - Missense(1)	p.T412M(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1234-1236)aCg>aTg		solute carrier family 45, member 2		G	MET/THR,MET/THR	0,4406		0,0,2203	146.0	147.0	147.0		1235,1235	5.6	1.0	5	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC45A2	NM_001012509.2,NM_016180.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	412/461,412/531	33947401	1,13005	2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947401G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1235C>T	5.37:g.33947401G>A	ENSP00000296589:p.Thr412Met	True	False		Somatic	0				SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	p.T412M	NM_001012509.2	NP_001012527	WXS	Illumina HiSeq	Phase_I	Q9UMX9	S45A2_HUMAN			6	1292	-			412					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1235C>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988904	0.93106	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.39020	1.185	0.80722	D	1	D;P	0.89917	1.0;0.622	D;P	0.85130	0.997;0.466	D	0.86327	0.1696	10	0.02654	T	1	-12.7534	19.6445	0.95771	0.0:0.0:1.0:0.0	.	412;412	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	M	412;353;412;237	ENSP00000296589:T412M;ENSP00000341014:T353M;ENSP00000371534:T412M;ENSP00000424010:T237M	ENSP00000296589:T412M	T	-	2	0	SLC45A2	33983158	1.000000	0.71417	0.958000	0.39756	0.964000	0.63967	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	ACG		0.488	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	0	NM_016180		5:33947401
TNFAIP8	25816	broad.mit.edu	37	5	118728611	118728611	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:118728611C>A	ENST00000503646.1	+	3	820	c.132C>A	c.(130-132)gaC>gaA	p.D44E	TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.D44E|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	44					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)	p.D44D(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCTTAATAGACGACACAAGTA	0.463																																						ENST00000504771.2		NA																	1	Substitution - coding silent(1)	p.D44D(1)	breast(1)	ovary(1)	1						c.(130-132)gaC>gaA		tumor necrosis factor, alpha-induced protein 8																																				SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728611C>A	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.132C>A	5.37:g.118728611C>A	ENSP00000421848:p.Asp44Glu	False	False		Somatic	0				TNFAIP8_ENST00000503646.1_Missense_Mutation_p.D44E|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E	p.D44E	NM_014350.2	NP_055165.2	WXS	Illumina HiSeq	Phase_I	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	1909	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	44					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.132C>A	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895834	0.72639	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.8	-11.6	0.00059	.	0.000000	0.64402	D	0.000001	T	0.65302	0.2678	M	0.84846	2.72	0.80722	D	1	D;D;P;D	0.71674	0.998;0.998;0.916;0.998	D;D;P;D	0.74674	0.983;0.984;0.86;0.984	D	0.87529	0.2451	10	0.87932	D	0	-7.2509	21.1111	0.99946	0.0:0.6774:0.0:0.3226	.	56;44;34;44	B7Z713;O95379;O95379-3;B3KUI2	.;TFIP8_HUMAN;.;.	E	34;12;56;44;44;46	ENSP00000274456:D34E;ENSP00000429432:D12E;ENSP00000427424:D56E;ENSP00000422245:D44E;ENSP00000421848:D44E;ENSP00000427160:D46E	ENSP00000274456:D34E	D	+	3	2	TNFAIP8	118756510	0.038000	0.19896	0.058000	0.19502	0.951000	0.60555	-0.645000	0.05409	-2.668000	0.00415	-1.021000	0.02439	GAC		0.463	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	0	NM_014350		5:118728611
LPAR3	23566	broad.mit.edu	37	1	85279808	85279808	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85279808G>A	ENST00000440886.1	-	2	821	c.783C>T	c.(781-783)ctC>ctT	p.L261L	LPAR3_ENST00000370611.3_Silent_p.L261L|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	261					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAGGCCGTCGAGGAGCAGAA	0.582																																						ENST00000440886.1		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(781-783)ctC>ctT		lysophosphatidic acid receptor 3							64.0	60.0	62.0					1																	85279808		2203	4300	6503	SO:0001819	synonymous_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279808G>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.783C>T	1.37:g.85279808G>A		False	False		Somatic	0				LPAR3_ENST00000370611.3_Silent_p.L261L|LPAR3_ENST00000491034.1_5'UTR	p.L261L			WXS	Illumina HiSeq	Phase_I	Q9UBY5	LPAR3_HUMAN			2	821	-			261					A0AVA3	Silent	SNP	ENST00000440886.1	37	c.783C>T	CCDS700.1																																																																																				0.582	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	0	NM_012152		1:85279808
CACNA1I	8911	broad.mit.edu	37	22	40075752	40075752	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:40075752C>G	ENST00000402142.3	+	33	5420	c.5420C>G	c.(5419-5421)tCt>tGt	p.S1807C	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1813C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1807					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GACAGCGTCTCTTTAATCATC	0.632																																						ENST00000336649.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5437-5439)tCt>tGt		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						38.0	41.0	40.0					22																	40075752		1942	4143	6085	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40075752C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5420C>G	22.37:g.40075752C>G	ENSP00000385019:p.Ser1807Cys	True	False		Somatic	0				CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1807C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C	p.S1813C			WXS	Illumina HiSeq	Phase_I	Q9P0X4	CAC1I_HUMAN			36	5438	+	Melanoma(58;0.0749)		1807					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5438C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169998	0.78452	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98968	-5.26;-5.23;-5.14;-5.09;-5.28;-5.19	4.3	4.3	0.51218	.	5.708610	0.00397	N	0.000043	D	0.99211	0.9726	M	0.68952	2.095	0.52501	D	0.999956	D;D;D;D	0.89917	0.999;0.969;1.0;1.0	D;P;D;D	0.87578	0.995;0.708;0.998;0.996	D	0.94094	0.7356	10	0.72032	D	0.01	.	17.1233	0.86707	0.0:1.0:0.0:0.0	.	1772;1807;1772;1807	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	1807;1772;1807;1772;1813;1772	ENSP00000385019:S1807C;ENSP00000384093:S1772C;ENSP00000383887:S1807C;ENSP00000385680:S1772C;ENSP00000337829:S1813C;ENSP00000383028:S1772C	ENSP00000337829:S1813C	S	+	2	0	CACNA1I	38405698	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.347000	0.79356	2.087000	0.62958	0.462000	0.41574	TCT		0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	NM_001003406		22:40075752
DHX58	79132	broad.mit.edu	37	17	40262918	40262918	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:40262918G>A	ENST00000251642.3	-	5	606	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	128	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATCCACCACGATCAGGGAGA	0.542																																						ENST00000251642.3		NA																	0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(382-384)atC>atT		DEXH (Asp-Glu-X-His) box polypeptide 58							136.0	117.0	123.0					17																	40262918		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40262918G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.384C>T	17.37:g.40262918G>A		False	False		Somatic	0					p.I128I	NM_024119.2	NP_077024.2	WXS	Illumina HiSeq	Phase_I	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	606	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	128			Helicase ATP-binding.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.384C>T	CCDS11416.1																																																																																				0.542	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	0	NM_024119		17:40262918
POU3F2	5454	broad.mit.edu	37	6	99283224	99283224	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:99283224G>A	ENST00000328345.5	+	1	645	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	159					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCACCACGCCGCTAACCACCA	0.682																																						ENST00000328345.5		NA																	0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(475-477)Gct>Act		POU class 3 homeobox 2							4.0	5.0	5.0					6																	99283224		2015	3971	5986	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283224G>A	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.475G>A	6.37:g.99283224G>A	ENSP00000329170:p.Ala159Thr	False	False		Somatic	0					p.A159T	NM_005604.3	NP_005595.2	WXS	Illumina HiSeq	Phase_I	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	645	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	159					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.475G>A	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632659	0.14322	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.41400	1.0	3.24	2.36	0.29203	.	1.037200	0.07655	U	0.932722	T	0.04407	0.0121	N	0.02539	-0.55	0.30999	N	0.720528	B	0.10296	0.003	B	0.04013	0.001	T	0.37407	-0.9707	10	0.07030	T	0.85	.	4.6516	0.12598	0.1309:0.227:0.6422:0.0	.	159	P20265	PO3F2_HUMAN	T	159;140	ENSP00000329170:A159T	ENSP00000329170:A159T	A	+	1	0	POU3F2	99389945	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	1.454000	0.35178	0.707000	0.31934	0.184000	0.17185	GCT		0.682	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2	0			6:99283224
WDR90	197335	broad.mit.edu	37	16	716059	716059	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:716059C>T	ENST00000293879.4	+	36	4544	c.4544C>T	c.(4543-4545)aCg>aTg	p.T1515M	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Missense_Mutation_p.T114M|WDR90_ENST00000549091.1_Missense_Mutation_p.T1517M|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1515										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTCCCGCACGGCCATGGAG	0.677																																						ENST00000549091.1		NA																	0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4549-4551)aCg>aTg		WD repeat domain 90							49.0	53.0	52.0					16																	716059		2132	4228	6360	SO:0001583	missense	197335							g.chr16:716059C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4544C>T	16.37:g.716059C>T	ENSP00000293879:p.Thr1515Met	False	False		Somatic	0				WDR90_ENST00000315764.4_Missense_Mutation_p.T114M|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.T1515M	p.T1517M	NM_145294.4	NP_660337.3	WXS	Illumina HiSeq	Phase_I	Q96KV7	WDR90_HUMAN			36	4642	+		Hepatocellular(780;0.0218)	1515					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4550C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	5.658	0.306009	0.10733	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.65549	3.43;1.56;-0.16;1.62	4.45	1.23	0.21249	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.085630	0.06926	N	0.810310	T	0.47173	0.1431	L	0.41027	1.25	0.09310	N	1	P;P;P;P	0.45428	0.858;0.823;0.621;0.729	B;B;B;B	0.33042	0.133;0.157;0.05;0.121	T	0.28618	-1.0038	10	0.33940	T	0.23	.	8.6721	0.34156	0.0:0.8547:0.0:0.1453	.	114;114;114;1515	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	M	1517;1515;114;114	ENSP00000448122:T1517M;ENSP00000293879:T1515M;ENSP00000449576:T114M;ENSP00000322808:T114M	ENSP00000293879:T1515M	T	+	2	0	WDR90	656060	0.364000	0.24997	0.000000	0.03702	0.097000	0.18754	2.238000	0.43070	-0.005000	0.14395	0.561000	0.74099	ACG		0.677	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	NM_145294		16:716059
CYP1A2	1544	broad.mit.edu	37	15	75047332	75047332	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:75047332C>T	ENST00000343932.4	+	7	1517	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	485					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGCGTGCCGCCGGGCGTGAAA	0.617																																						ENST00000343932.4		NA																	0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1453-1455)cCg>cTg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						83.0	69.0	74.0					15																	75047332		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047332C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1454C>T	15.37:g.75047332C>T	ENSP00000342007:p.Pro485Leu	True	False		Somatic	0					p.P485L	NM_000761.3	NP_000752.2	WXS	Illumina HiSeq	Phase_I	P05177	CP1A2_HUMAN			7	1517	+			485					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1454C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667880	0.14710	.	.	ENSG00000140505	ENST00000343932	T	0.71341	-0.56	4.39	4.39	0.52855	.	0.284989	0.40144	N	0.001179	T	0.66237	0.2769	M	0.64170	1.965	0.09310	N	0.999995	B	0.22541	0.071	B	0.15870	0.014	T	0.61973	-0.6952	10	0.56958	D	0.05	.	12.0723	0.53624	0.3113:0.6887:0.0:0.0	.	485	P05177-2	.	L	485	ENSP00000342007:P485L	ENSP00000342007:P485L	P	+	2	0	CYP1A2	72834385	0.023000	0.18921	0.020000	0.16555	0.041000	0.13682	2.991000	0.49409	2.251000	0.74343	0.455000	0.32223	CCG		0.617	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	0	NM_000761		15:75047332
RGPD1	400966	broad.mit.edu	37	2	87140987	87140987	+	Intron	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:87140987G>A	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.K5K			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672																																						ENST00000398193.3		NA																	0				breast(1)|endometrium(1)|lung(1)	3						c.(13-15)aaG>aaA		RANBP2-like and GRIP domain containing 1							19.0	28.0	25.0					2																	87140987		2182	4283	6465	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87140987G>A		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000409776.2:c.48+5848G>A	2.37:g.87140987G>A		False	False		Somatic	0				RGPD1_ENST00000409776.2_Intron	p.K5K			WXS	Illumina HiSeq	Phase_I	Q68DN6	RGPD1_HUMAN			1	53	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.15G>A																																																																																					0.672	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_001024457		2:87140987
KDM1A	23028	broad.mit.edu	37	1	23376993	23376993	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:23376993C>G	ENST00000356634.3	+	3	780	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.L231V|KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	211	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|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)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAGGTTTTTCTTTTCATTAG	0.383																																						ENST00000400181.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(691-693)Ctt>Gtt		lysine (K)-specific demethylase 1A							116.0	112.0	113.0					1																	23376993		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376993C>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.631C>G	1.37:g.23376993C>G	ENSP00000349049:p.Leu211Val	True	False		Somatic	0				KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.L211V	p.L231V	NM_001009999.2	NP_001009999.1	WXS	Illumina HiSeq	Phase_I	O60341	KDM1A_HUMAN			4	795	+			211			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.691C>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478654	0.63849	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.60920	0.24;0.16;0.15	5.82	4.91	0.64330	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.64402	D	0.000001	T	0.76212	0.3956	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79315	-0.1854	10	0.87932	D	0	-15.4498	9.9819	0.41819	0.0:0.8483:0.0:0.1517	.	231;211	O60341-2;O60341	.;KDM1A_HUMAN	V	211;231;231	ENSP00000349049:L211V;ENSP00000383042:L231V;ENSP00000439072:L231V	ENSP00000349049:L211V	L	+	1	0	KDM1A	23249580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.695000	0.37763	1.462000	0.47948	0.655000	0.94253	CTT		0.383	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	0	NM_015013		1:23376993
C1QTNF9B	387911	broad.mit.edu	37	13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:24465897C>T	ENST00000382140.2	-	5	593	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R178Q			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587																																						ENST00000382137.3		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(532-534)cGg>cAg		C1q and tumor necrosis factor related protein 9B							32.0	41.0	38.0					13																	24465897		2201	4297	6498	SO:0001583	missense	387911					collagen		g.chr13:24465897C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.533G>A	13.37:g.24465897C>T	ENSP00000371575:p.Arg178Gln	True	False		Somatic	0				C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA	p.R178Q	NM_001007537.1	NP_001007538.1	WXS	Illumina HiSeq	Phase_I	B2RNN3	C1T9B_HUMAN			3	601	-			178			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.533G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246859	0.39697	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.96136	-3.92;-3.92	4.26	3.24	0.37175	.	0.122397	0.64402	D	0.000018	D	0.89336	0.6686	L	0.48362	1.52	0.80722	D	1	B	0.29037	0.231	B	0.15484	0.013	T	0.83168	-0.0095	10	0.23302	T	0.38	.	2.9984	0.06005	0.0:0.5062:0.0:0.4938	.	178	B2RNN3	C1T9B_HUMAN	Q	178	ENSP00000371572:R178Q;ENSP00000371575:R178Q	ENSP00000371572:R178Q	R	-	2	0	C1QTNF9B	23363897	0.846000	0.29590	0.928000	0.36995	0.984000	0.73092	1.463000	0.35277	1.950000	0.56595	0.456000	0.33151	CGG		0.587	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	0	NM_001007537		13:24465897
TULP4	56995	broad.mit.edu	37	6	158924700	158924700	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:158924700G>C	ENST00000367097.3	+	13	5362	c.4005G>C	c.(4003-4005)aaG>aaC	p.K1335N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1335					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AATTTGGAAAGAAGAACCGGA	0.537																																						ENST00000367097.3		NA																	0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(4003-4005)aaG>aaC		tubby like protein 4							43.0	47.0	46.0					6																	158924700		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924700G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4005G>C	6.37:g.158924700G>C	ENSP00000356064:p.Lys1335Asn	True	False		Somatic	0				TULP4_ENST00000367094.2_Intron	p.K1335N	NM_020245.4	NP_064630.2	WXS	Illumina HiSeq	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5362	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1335					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.4005G>C	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440322	0.63067	.	.	ENSG00000130338	ENST00000367097	T	0.70869	-0.52	5.7	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80020	-0.1557	10	0.66056	D	0.02	-27.8828	11.6899	0.51510	0.1417:0.0:0.8583:0.0	.	1335	Q9NRJ4	TULP4_HUMAN	N	1335	ENSP00000356064:K1335N	ENSP00000356064:K1335N	K	+	3	2	TULP4	158844688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.612000	0.54142	1.425000	0.47237	0.561000	0.74099	AAG		0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	0	NM_020245		6:158924700
AVPR1B	553	broad.mit.edu	37	1	206230924	206230924	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:206230924C>A	ENST00000367126.4	+	2	1522	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	353					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGCGTCACCTTGCCTGCTG	0.652																																						ENST00000367126.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(1057-1059)Ctt>Att		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						35.0	31.0	32.0					1																	206230924		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206230924C>A	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1057C>A	1.37:g.206230924C>A	ENSP00000356094:p.Leu353Ile	False	False		Somatic	0					p.L353I	NM_000707.3	NP_000698.1	WXS	Illumina HiSeq	Phase_I	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		2	1522	+			353					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.1057C>A	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917594	0.52546	.	.	ENSG00000198049	ENST00000367126	T	0.47177	0.85	5.6	3.68	0.42216	.	0.625252	0.13928	N	0.353117	T	0.40119	0.1104	L	0.50333	1.59	0.09310	N	1	B	0.16396	0.017	B	0.19946	0.027	T	0.32798	-0.9893	10	0.49607	T	0.09	-0.6355	6.3659	0.21455	0.1629:0.6944:0.0:0.1426	.	353	P47901	V1BR_HUMAN	I	353	ENSP00000356094:L353I	ENSP00000356094:L353I	L	+	1	0	AVPR1B	204397547	0.000000	0.05858	0.017000	0.16124	0.528000	0.34623	0.400000	0.20932	1.310000	0.45006	0.563000	0.77884	CTT		0.652	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	0	NM_000707		1:206230924
