#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
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	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_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH	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_ENST00000541700.1_5'UTR|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH	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
SLC2A13	114134	broad.mit.edu	37	12	40158593	40158594	+	Frame_Shift_Ins	INS	-	-	GATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:40158593_40158594insGATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	ENST00000280871.4	-	8	1562_1563	c.1512_1513insAAAACTTTAGTAAAATAGCATGTAAGAAATTTGAAAAATTATAGTTTATC	c.(1510-1515)ccatacfs	p.Y505fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	505					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTCCAGGAGTATGGAGTAGGGC	0.337										HNSCC(50;0.14)																												ENST00000280871.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1510-1515)ccatacfs		solute carrier family 2 (facilitated glucose transporter), member 13																																				SO:0001589	frameshift_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158593_40158594insGATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1512_1513insAAAACTTTAGTAAAATAGCATGTAAGAAATTTGAAAAATTATAGTTTATC	12.37:g.40158593_40158594insGATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	ENSP00000280871:p.Tyr505fs	False	False	HNSCC(50;0.14)	Somatic	0					p.Y505fs	NM_052885.3	NP_443117.3	WXS	Illumina HiSeq	Phase_I	Q96QE2	MYCT_HUMAN			8	1562_1563	-		Lung NSC(34;0.105)|all_lung(34;0.123)	505					Q17S07	Frame_Shift_Ins	INS	ENST00000280871.4	37	c.1512_1513insAAAACTTTAGTAAAATAGCATGTAAGAAATTTGAAAAATTATAGTTTATC	CCDS8736.2																																																																																				0.337	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2	0			12:40158593
C1orf27	54953	broad.mit.edu	37	1	186359978	186359979	+	Frame_Shift_Ins	INS	-	-	ACTATGATGTAGT			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:186359978_186359979insACTATGATGTAGT	ENST00000287859.6	+	7	735_736	c.610_611insACTATGATGTAGT	c.(610-612)acafs	p.T204fs	C1orf27_ENST00000367470.3_Frame_Shift_Ins_p.T204fs|C1orf27_ENST00000432021.3_Frame_Shift_Ins_p.T204fs|C1orf27_ENST00000419367.3_Frame_Shift_Ins_p.T172fs	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	204						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAGAAAAATACAAAGGTACCA	0.351																																						ENST00000287859.6		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(610-612)acafs		chromosome 1 open reading frame 27																																				SO:0001589	frameshift_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186359978_186359979insACTATGATGTAGT	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	Exception_encountered	1.37:g.186359978_186359979insACTATGATGTAGT	ENSP00000287859:p.Thr204fs	True	False		Somatic	0				C1orf27_ENST00000419367.3_Frame_Shift_Ins_p.T172fs|C1orf27_ENST00000367470.3_Frame_Shift_Ins_p.T204fs|C1orf27_ENST00000432021.3_Frame_Shift_Ins_p.T204fs	p.T204fs	NM_017847.5	NP_060317.3	WXS	Illumina HiSeq	Phase_I	Q5SWX8	ODR4_HUMAN			7	735_736	+			204					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Frame_Shift_Ins	INS	ENST00000287859.6	37	c.610_611insACTATGATGTAGT	CCDS53448.1																																																																																				0.351	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	0	NM_017847		1:186359978
SMAD4	4089	broad.mit.edu	37	18	48604742	48604743	+	Frame_Shift_Del	DEL	CC	CC	-	rs377767374		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:48604742_48604743delCC	ENST00000342988.3	+	12	2102_2103	c.1564_1565delCC	c.(1564-1566)cctfs	p.P522fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	522	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAAGAAACACCTTGCTGGATT	0.48																																						ENST00000588745.1		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CD000943	SMAD4	D		c.(1276-1278)cctfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604742_48604743delCC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1564_1565delCC	18.37:g.48604742_48604743delCC	ENSP00000341551:p.Pro522fs	False	False		Somatic	2				SMAD4_ENST00000342988.3_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000586253.1_3'UTR	p.P426fs			WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	8	1276_1277	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	522			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1276_1277delCC	CCDS11950.1																																																																																				0.480	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48604742
MUC16	94025	broad.mit.edu	37	19	9068999	9069000	+	Frame_Shift_Ins	INS	-	-	TCAGAAACAACCAGTGTCATGAACA	rs114426214		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:9068999_9069000insTCAGAAACAACCAGTGTCATGAACA	ENST00000397910.4	-	3	18649_18650	c.18446_18447insTGTTCATGACACTGGTTGTTTCTGA	c.(18445-18447)atafs	p.-6149fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TGTGTGTAGATATTGTCAAGGG	0.495																																						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.(18445-18447)atafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068999_9069000insTCAGAAACAACCAGTGTCATGAACA	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.18446_18447insTGTTCATGACACTGGTTGTTTCTGA	19.37:g.9068999_9069000insTCAGAAACAACCAGTGTCATGAACA	ENSP00000381008:p.Ile6149fs	False	False		Somatic	0					p.-6149fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	18649_18650	-			NA					Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.18446_18447insTGTTCATGACACTGGTTGTTTCTGA	CCDS54212.1																																																																																				0.495	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9068999
KMT2B	9757	broad.mit.edu	37	19	36223712	36223712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:36223712delC	ENST00000222270.7	+	28	6262	c.6262delC	c.(6262-6264)ccafs	p.P2088fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P2088fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2088					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCCTTCGGGGCCAGGAGTAGT	0.662																																						ENST00000420124.1		NA																	0					NA						c.(6262-6264)ccafs									10.0	12.0	12.0					19																	36223712		1927	4110	6037	SO:0001589	frameshift_variant	0							g.chr19:36223712delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6262delC	19.37:g.36223712delC	ENSP00000222270:p.Pro2088fs	True	False		Somatic	2				KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.P2088fs	p.P2088fs			WXS	Illumina HiSeq	Phase_I					28	6262	+			NA					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.6262delC	CCDS46055.1																																																																																				0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014727		19:36223712
SRPK3	26576	broad.mit.edu	37	X	153050878	153050892	+	In_Frame_Del	DEL	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-	rs371187433|rs376315195		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-	-	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	ENST00000370101.3	+	15	1653_1667	c.1607_1621delCACAGTTCAGCGCCT	c.(1606-1623)acacagttcagcgccttt>att	p.536_541TQFSAF>I	SRPK3_ENST00000489426.1_In_Frame_Del_p.603_608TQFSAF>I|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I|SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC	0.628																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1807-1824)acacagttcagcgccttt>att		SRSF protein kinase 3																																				SO:0001651	inframe_deletion	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1607_1621delCACAGTTCAGCGCCT	X.37:g.153050878_153050892delCACAGTTCAGCGCCT	ENSP00000359119:p.Thr536_Phe541delinsIle	False	False		Somatic	1				SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|SRPK3_ENST00000370101.3_In_Frame_Del_p.536_541TQFSAF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I	p.603_608TQFSAF>I			WXS	Illumina HiSeq	Phase_I	Q9UPE1	SRPK3_HUMAN			21	4174_4188	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		536					Q13583|Q4F970|Q562F5|Q9UM62	In_Frame_Del	DEL	ENST00000370101.3	37	c.1808_1822delCACAGTTCAGCGCCT	CCDS35441.1																																																																																				0.628	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	0	NM_014370		X:153050878
SPEF2	79925	broad.mit.edu	37	5	35691186	35691187	+	Frame_Shift_Ins	INS	-	-	CCACCCT	rs576319777		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:35691186_35691187insCCACCCT	ENST00000356031.3	+	11	1726_1727	c.1572_1573insCCACCCT	c.(1573-1575)ccafs	p.-527fs	SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.-527fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.-527fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGACAATTTACCACCCTCCAA	0.396																																						ENST00000440995.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1573-1575)ccafs		sperm flagellar 2																																				SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691186_35691187insCCACCCT	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1573_1579dupCCACCCT	5.37:g.35691187_35691193dupCCACCCT	ENSP00000348314:p.Ser527fs	False	False		Somatic	1				CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.-527fs|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.-527fs	p.-527fs			WXS	Illumina HiSeq	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1572_1573	+	all_lung(31;7.56e-05)		NA					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Ins	INS	ENST00000356031.3	37	c.1572_1573insCCACCCT	CCDS43309.1																																																																																				0.396	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	NM_144722		5:35691186
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
TGS1	96764	broad.mit.edu	37	8	56699331	56699332	+	Frame_Shift_Ins	INS	-	-	A	rs368055377		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:56699331_56699332insA	ENST00000260129.5	+	4	1351_1352	c.874_875insA	c.(874-876)ttafs	p.L292fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	292					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GAAAGTTGACTTAGTATCTTTT	0.351																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(874-876)ttafs		trimethylguanosine synthase 1																																				SO:0001589	frameshift_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699331_56699332insA	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	Exception_encountered	8.37:g.56699331_56699332insA	ENSP00000260129:p.Leu292fs	False	False		Somatic	0					p.L292fs	NM_024831.6	NP_079107.6	WXS	Illumina HiSeq	Phase_I	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1351_1352	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	292					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Ins	INS	ENST00000260129.5	37	c.874_875insA	CCDS34894.1																																																																																				0.351	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	0	NM_024831		8:56699331
TGS1	96764	broad.mit.edu	37	8	56699333	56699334	+	Frame_Shift_Ins	INS	-	-	ATGTTGCTCCCATTCTTCCTTT			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:56699333_56699334insATGTTGCTCCCATTCTTCCTTT	ENST00000260129.5	+	4	1353_1354	c.876_877insATGTTGCTCCCATTCTTCCTTT	c.(877-879)gtafs	p.V293fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	293					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAGTTGACTTAGTATCTTTTCC	0.347																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(877-879)gtafs		trimethylguanosine synthase 1																																				SO:0001589	frameshift_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699333_56699334insATGTTGCTCCCATTCTTCCTTT	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	Exception_encountered	8.37:g.56699333_56699334insATGTTGCTCCCATTCTTCCTTT	ENSP00000260129:p.Val293fs	False	False		Somatic	0					p.V293fs	NM_024831.6	NP_079107.6	WXS	Illumina HiSeq	Phase_I	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1353_1354	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	293					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Ins	INS	ENST00000260129.5	37	c.876_877insATGTTGCTCCCATTCTTCCTTT	CCDS34894.1																																																																																				0.347	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	0	NM_024831		8:56699333
ARFGEF1	10565	broad.mit.edu	37	8	68170031	68170031	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:68170031G>A	ENST00000262215.3	-	17	2851	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	821	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCTGTATCCGCACTAGCAAA	0.328																																						ENST00000262215.3		NA																	0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2461-2463)gCg>gTg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							115.0	117.0	116.0					8																	68170031		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68170031G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2462C>T	8.37:g.68170031G>A	ENSP00000262215:p.Ala821Val	False	False		Somatic	0				ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	p.A821V	NM_006421.4	NP_006412.2	WXS	Illumina HiSeq	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		17	2851	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	821			SEC7.		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2462C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351328	0.95830	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82959	-0.0198	10	0.87932	D	0	.	18.7643	0.91866	0.0:0.0:1.0:0.0	.	821;275	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	V	275;821	ENSP00000428429:A275V;ENSP00000262215:A821V	ENSP00000262215:A821V	A	-	2	0	ARFGEF1	68332585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.420000	0.82092	0.563000	0.77884	GCG		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	0	NM_006421		8:68170031
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:133381515G>A	ENST00000450791.2	-	6	1567	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W			Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612																																						ENST00000204726.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1384-1386)Cgg>Tgg		golgin A3							45.0	44.0	44.0					12																	133381515		2203	4291	6494	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381515G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1384C>T	12.37:g.133381515G>A	ENSP00000410378:p.Arg462Trp	False	False		Somatic	0				GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	p.R462W	NM_005895.3	NP_005886.2	WXS	Illumina HiSeq	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	7	1942	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	462					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1384C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240122	0.79912	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.45	3.12	0.35913	.	0.357463	0.36167	N	0.002757	T	0.74099	0.3672	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	P;B;P	0.50708	0.648;0.431;0.62	T	0.73503	-0.3962	10	0.87932	D	0	.	7.5344	0.27702	0.0:0.0804:0.1589:0.7607	.	462;462;462	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	462	ENSP00000204726:R462W;ENSP00000410378:R462W;ENSP00000409303:R462W;ENSP00000442143:R462W;ENSP00000442603:R462W	ENSP00000204726:R462W	R	-	1	2	GOLGA3	131891588	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	2.687000	0.46976	0.376000	0.24707	0.561000	0.74099	CGG		0.612	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	0	NM_005895		12:133381515
KCNA7	3743	broad.mit.edu	37	19	49573549	49573549	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49573549G>A	ENST00000221444.1	-	2	1497	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	381					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CAGCACGCCCGCAATGGCACA	0.557																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1141-1143)gCg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 7							78.0	67.0	70.0					19																	49573549		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573549G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1142C>T	19.37:g.49573549G>A	ENSP00000221444:p.Ala381Val	True	False		Somatic	0					p.A381V	NM_031886.2	NP_114092.2	WXS	Illumina HiSeq	Phase_I	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1497	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	381					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1142C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862088	0.91511	.	.	ENSG00000104848	ENST00000221444	D	0.98313	-4.86	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	L	0.48260	1.515	0.80722	D	1	D	0.60575	0.988	P	0.47251	0.542	D	0.97729	1.0201	10	0.72032	D	0.01	.	16.6617	0.85242	0.0:0.0:1.0:0.0	.	381	Q96RP8	KCNA7_HUMAN	V	381	ENSP00000221444:A381V	ENSP00000221444:A381V	A	-	2	0	KCNA7	54265361	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	9.860000	0.99555	2.321000	0.78463	0.491000	0.48974	GCG		0.557	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	0	NM_031886		19:49573549
OR2T12	127064	broad.mit.edu	37	1	248458256	248458256	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:248458256A>G	ENST00000317996.1	-	1	624	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			ATGAGGGAAAAGGGGACCAGG	0.547																																						ENST00000317996.1		NA																	1	Substitution - Missense(1)	p.F209L(1)	prostate(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(625-627)Ttt>Ctt		olfactory receptor, family 2, subfamily T, member 12							49.0	43.0	45.0					1																	248458256		2202	4282	6484	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458256A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.625T>C	1.37:g.248458256A>G	ENSP00000324583:p.Phe209Leu	True	False		Somatic	0					p.F209L	NM_001004692.1	NP_001004692.1	WXS	Illumina HiSeq	Phase_I	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	624	-	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)		209						Missense_Mutation	SNP	ENST00000317996.1	37	c.625T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	0.425	-0.906199	0.02453	.	.	ENSG00000177201	ENST00000317996	T	0.32988	1.43	1.55	-0.261	0.12963	GPCR, rhodopsin-like superfamily (1);	0.858771	0.09453	N	0.800195	T	0.14960	0.0361	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29397	-1.0013	10	0.25751	T	0.34	.	6.739	0.23424	0.772:0.0:0.0:0.228	.	209	Q8NG77	O2T12_HUMAN	L	209	ENSP00000324583:F209L	ENSP00000324583:F209L	F	-	1	0	OR2T12	246524879	0.000000	0.05858	0.023000	0.16930	0.191000	0.23601	-1.313000	0.02718	0.540000	0.28808	0.147000	0.16070	TTT		0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	0	NM_001004692		1:248458256
PCDHB4	56131	broad.mit.edu	37	5	140503632	140503632	+	Silent	SNP	T	T	C	rs368817063	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140503632T>C	ENST00000194152.1	+	1	2052	c.2052T>C	c.(2050-2052)tcT>tcC	p.S684S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	684					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCGACTCTCTCACCGTCT	0.697																																						ENST00000194152.1		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(2050-2052)tcT>tcC									64.0	74.0	71.0					5																	140503632		2163	4230	6393	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503632T>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2052T>C	5.37:g.140503632T>C		True	False		Somatic	0					p.S684S	NM_018938.2	NP_061761.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2052	+			684					Q4V761	Silent	SNP	ENST00000194152.1	37	c.2052T>C	CCDS4246.1																																																																																				0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	0	NM_018938		5:140503632
IL3RA	3563	broad.mit.edu	37	X	1497572	1497572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:1497572G>A	ENST00000331035.4	+	10	1244	c.895G>A	c.(895-897)Gca>Aca	p.A299T	IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	299					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAGGAGGGCGCAAACACACG	0.672																																						ENST00000331035.4		NA																	0				lung(1)|skin(2)	3						c.(895-897)Gca>Aca		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						113.0	90.0	98.0					X																	1497572		2201	4295	6496	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497572G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.895G>A	X.37:g.1497572G>A	ENSP00000327890:p.Ala299Thr	False	False		Somatic	0				IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	p.A299T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina HiSeq	Phase_I	P26951	IL3RA_HUMAN			10	1244	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	299					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.895G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.340363	0.01277	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95918	1.53;-3.85	0.798	-1.59	0.08453	.	113.382000	0.00775	N	0.001236	D	0.86834	0.6028	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.09377	0.004;0.0	T	0.80405	-0.1396	9	0.14252	T	0.57	.	.	.	.	.	220;299	P26951-2;P26951	.;IL3RA_HUMAN	T	299;221	ENSP00000327890:A299T;ENSP00000370878:A221T	ENSP00000327890:A299T	A	+	1	0	IL3RA	1457572	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.867000	0.00346	-0.741000	0.04797	-0.510000	0.04470	GCA		0.672	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3	0			X:1497572
HAS3	3038	broad.mit.edu	37	16	69148721	69148721	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:69148721G>A	ENST00000306560.1	+	4	1370	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R405H	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	405					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R405H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGGGGCCGCATCTGGAAC	0.542																																						ENST00000306560.1		NA																	1	Substitution - Missense(1)	p.R405H(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1213-1215)cGc>cAc		hyaluronan synthase 3							117.0	109.0	112.0					16																	69148721		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148721G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1214G>A	16.37:g.69148721G>A	ENSP00000304440:p.Arg405His	False	False		Somatic	0				HAS3_ENST00000569188.1_Missense_Mutation_p.R405H|HAS3_ENST00000219322.3_Intron	p.R405H	NM_005329.2	NP_005320.2	WXS	Illumina HiSeq	Phase_I	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1370	+		Ovarian(137;0.101)	405					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.1214G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700380	0.88924	.	.	ENSG00000103044	ENST00000306560	T	0.59364	0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	L	0.59436	1.845	0.58432	D	0.999998	D	0.63046	0.992	P	0.54312	0.748	T	0.65899	-0.6056	10	0.44086	T	0.13	-8.402	20.2544	0.98414	0.0:0.0:1.0:0.0	.	405	O00219	HAS3_HUMAN	H	405	ENSP00000304440:R405H	ENSP00000304440:R405H	R	+	2	0	HAS3	67706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.885000	0.99019	0.655000	0.94253	CGC		0.542	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	0	NM_138612		16:69148721
GPR176	11245	broad.mit.edu	37	15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:40093625G>A	ENST00000561100.1	-	3	2121	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	GPR176_ENST00000543580.1_Missense_Mutation_p.A374V|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.A418V|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577																																						ENST00000299092.3		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1252-1254)gCg>gTg		G protein-coupled receptor 176							140.0	137.0	138.0					15																	40093625		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093625G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1256C>T	15.37:g.40093625G>A	ENSP00000453076:p.Ala419Val	False	False		Somatic	0				GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V	p.A418V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	WXS	Illumina HiSeq	Phase_I	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1451	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	419					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1253C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	0.833	-0.744502	0.03065	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79141	-1.24	5.95	-1.57	0.08506	.	1.400100	0.04030	N	0.301258	T	0.64136	0.2571	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43589	-0.9382	10	0.26408	T	0.33	-0.0271	8.3264	0.32160	0.3111:0.1057:0.5832:0.0	.	419	Q14439	GP176_HUMAN	V	419;374	ENSP00000439361:A374V	ENSP00000299092:A419V	A	-	2	0	GPR176	37880917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.381000	0.07417	-0.876000	0.04017	-2.048000	0.00412	GCG		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	0	NM_007223		15:40093625
NCKAP1L	3071	broad.mit.edu	37	12	54917197	54917197	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:54917197C>T	ENST00000293373.6	+	19	1977	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	633					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCACTGTGCCACTACAATC	0.473																																						ENST00000293373.6		NA																	0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1897-1899)gCc>gTc		NCK-associated protein 1-like							164.0	173.0	170.0					12																	54917197		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917197C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1898C>T	12.37:g.54917197C>T	ENSP00000293373:p.Ala633Val	False	False		Somatic	0				NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	p.A633V	NM_005337.4	NP_005328.2	WXS	Illumina HiSeq	Phase_I	P55160	NCKPL_HUMAN			19	1977	+			633					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1898C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701576	0.88924	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.39787	1.06;1.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57814	-0.7746	10	0.36615	T	0.2	-15.2108	16.9443	0.86226	0.0:1.0:0.0:0.0	.	633	P55160	NCKPL_HUMAN	V	633;583	ENSP00000293373:A633V;ENSP00000445596:A583V	ENSP00000293373:A633V	A	+	2	0	NCKAP1L	53203464	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.491000	0.81471	2.673000	0.90976	0.655000	0.94253	GCC		0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	0	NM_005337		12:54917197
SCN5A	6331	broad.mit.edu	37	3	38639417	38639417	+	Missense_Mutation	SNP	G	G	A	rs199473580		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:38639417G>A	ENST00000333535.4	-	14	2214	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C	SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCGAGACGGTTCCAGCAT	0.532																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2065-2067)Cgt>Tgt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						115.0	120.0	119.0					3																	38639417		2133	4234	6367	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639417G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2065C>T	3.37:g.38639417G>A	ENSP00000328968:p.Arg689Cys	False	False		Somatic	0				SCN5A_ENST00000333535.4_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C	p.R689C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2258	-	Medulloblastoma(35;0.163)		689					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2065C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304276	0.40795	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.88;-3.91;-3.91;-3.91;-3.91;-3.88;-3.91;-3.97;-3.91;-3.91	4.9	4.9	0.64082	.	1.137170	0.06183	N	0.679836	D	0.97785	0.9273	M	0.80183	2.485	0.44603	D	0.997576	D;D;D;D;D;D;D	0.71674	0.978;0.991;0.987;0.978;0.978;0.998;0.987	B;B;P;B;B;P;P	0.52710	0.328;0.328;0.528;0.328;0.328;0.707;0.528	D	0.94661	0.7848	10	0.87932	D	0	.	18.2549	0.90016	0.0:0.0:1.0:0.0	.	689;689;689;689;689;689;689	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	689	ENSP00000398962:R689C;ENSP00000398266:R689C;ENSP00000410257:R689C;ENSP00000388797:R689C;ENSP00000397915:R689C;ENSP00000416634:R689C;ENSP00000328968:R689C;ENSP00000399524:R689C;ENSP00000403355:R689C;ENSP00000413996:R689C	ENSP00000328968:R689C	R	-	1	0	SCN5A	38614421	0.134000	0.22483	0.982000	0.44146	0.405000	0.30901	1.004000	0.29822	2.563000	0.86464	0.491000	0.48974	CGT		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38639417
GLI3	2737	broad.mit.edu	37	7	42005520	42005520	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:42005520G>A	ENST00000395925.3	-	15	3235	c.3151C>T	c.(3151-3153)Cgg>Tgg	p.R1051W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCCTCGGGCCGCGTGTAATTC	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3151-3153)Cgg>Tgg		GLI family zinc finger 3							43.0	48.0	46.0					7																	42005520		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005520G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3151C>T	7.37:g.42005520G>A	ENSP00000379258:p.Arg1051Trp	False	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.R1051W	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			15	3235	-			1051					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3151C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693058	0.68271	.	.	ENSG00000106571	ENST00000395925	T	0.15834	2.39	5.47	5.47	0.80525	.	0.100400	0.64402	D	0.000001	T	0.31513	0.0799	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.01516	-1.1335	10	0.36615	T	0.2	.	17.5184	0.87780	0.0:0.0:1.0:0.0	.	1051	P10071	GLI3_HUMAN	W	1051	ENSP00000379258:R1051W	ENSP00000379258:R1051W	R	-	1	2	GLI3	41972045	1.000000	0.71417	0.926000	0.36857	0.689000	0.40095	7.435000	0.80391	2.561000	0.86390	0.563000	0.77884	CGG		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42005520
PREX1	57580	broad.mit.edu	37	20	47247332	47247332	+	Splice_Site	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:47247332C>A	ENST00000371941.3	-	36	4549	c.4527G>T	c.(4525-4527)agG>agT	p.R1509S	PREX1_ENST00000396220.1_Splice_Site_p.G1544V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1509					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGTAAAATGCCCTGCGAGAGA	0.622																																						ENST00000396220.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4630-4632)gGg>gTg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							73.0	64.0	67.0					20																	47247332		2203	4300	6503	SO:0001630	splice_region_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47247332C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4527-1G>T	20.37:g.47247332C>A		True	False		Somatic	0				PREX1_ENST00000371941.3_Splice_Site_p.R1509S	p.G1544V			WXS	Illumina HiSeq	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		35	4653	-			0					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	ENST00000371941.3	37	c.4631G>T	CCDS13410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.592|9.592	1.126450|1.126450	0.20959|0.20959	.|.	.|.	ENSG00000124126|ENSG00000124126	ENST00000396220|ENST00000371941	T|T	0.62941|0.65732	-0.01|-0.17	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.64402	.|U	.|0.000010	T|T	0.71643|0.71643	0.3364|0.3364	M|M	0.71581|0.71581	2.175|2.175	0.48040|0.48040	D|D	0.999579|0.999579	.|D;D	.|0.58620	.|0.971;0.983	.|P;P	.|0.57324	.|0.78;0.818	T|T	0.75428|0.75428	-0.3321|-0.3321	7|10	0.87932|0.87932	D|D	0|0	.|.	10.5481|10.5481	0.45072|0.45072	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|1509;806	.|Q8TCU6;Q8TCU6-2	.|PREX1_HUMAN;.	V|S	1544|1509	ENSP00000379522:G1544V|ENSP00000361009:R1509S	ENSP00000379522:G1544V|ENSP00000361009:R1509S	G|R	-|-	2|3	0|2	PREX1|PREX1	46680739|46680739	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.439000|0.439000	0.31926|0.31926	3.607000|3.607000	0.54102|0.54102	1.974000|1.974000	0.57490|0.57490	0.558000|0.558000	0.71614|0.71614	GGG|AGG		0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	0	NM_020820	Missense_Mutation	20:47247332
ANKRD34A	284615	broad.mit.edu	37	1	145474624	145474624	+	Silent	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:145474624C>A	ENST00000323397.4	+	4	2589	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	432	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGTCAGTCCCCACCCTCCCA	0.687																																						ENST00000323397.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1294-1296)ccC>ccA		ankyrin repeat domain 34A							26.0	23.0	24.0					1																	145474624		2202	4290	6492	SO:0001819	synonymous_variant	284615							g.chr1:145474624C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1296C>A	1.37:g.145474624C>A		True	False		Somatic	0					p.P432P	NM_001039888.2	NP_001034977.1	WXS	Illumina HiSeq	Phase_I	Q69YU3	AN34A_HUMAN			4	2589	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		432			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.1296C>A	CCDS30829.1																																																																																				0.687	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1	0			1:145474624
SLC46A3	283537	broad.mit.edu	37	13	29284936	29284936	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:29284936G>A	ENST00000266943.6	-	4	1474	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	369					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AACATGGACCGTAGAACAGAG	0.398																																						ENST00000266943.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(1105-1107)Cgg>Tgg		solute carrier family 46, member 3							145.0	137.0	140.0					13																	29284936		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29284936G>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1105C>T	13.37:g.29284936G>A	ENSP00000266943:p.Arg369Trp	False	False		Somatic	0				SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W	p.R369W	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	WXS	Illumina HiSeq	Phase_I	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	4	1474	-		Lung SC(185;0.0367)	369					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.1105C>T	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367312	0.61513	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80304	-1.36;-1.36	5.87	4.05	0.47172	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89914	0.6853	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91020	0.4856	10	0.87932	D	0	-25.3129	15.0378	0.71764	0.0:0.0:0.7331:0.2669	.	369;369	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	W	369	ENSP00000266943:R369W;ENSP00000370192:R369W	ENSP00000266943:R369W	R	-	1	2	SLC46A3	28182936	1.000000	0.71417	0.662000	0.29724	0.241000	0.25554	3.111000	0.50360	0.837000	0.34925	0.655000	0.94253	CGG		0.398	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	0	NM_181785		13:29284936
CYTH4	27128	broad.mit.edu	37	22	37707094	37707094	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:37707094G>A	ENST00000248901.6	+	10	1061	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CTACTACTTCGAGTTCACCAC	0.612																																						ENST00000248901.6		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(874-876)Gag>Aag		cytohesin 4							157.0	125.0	136.0					22																	37707094		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707094G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.874G>A	22.37:g.37707094G>A	ENSP00000248901:p.Glu292Lys	False	False		Somatic	0					p.E292K	NM_013385.3	NP_037517.1	WXS	Illumina HiSeq	Phase_I	Q9UIA0	CYH4_HUMAN			10	1061	+			292			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.874G>A	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.130571|3.130571	0.56828|0.56828	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.72725|.	-0.68|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.054141|.	0.64402|.	D|.	0.000001|.	T|T	0.46092|0.46092	0.1375|0.1375	N|N	0.10972|0.10972	0.075|0.075	0.80722|0.80722	D|D	1|1	P|.	0.40211|.	0.707|.	B|.	0.32583|.	0.148|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.31617|.	T|.	0.26|.	.|.	16.7637|16.7637	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	292|.	Q9UIA0|.	CYH4_HUMAN|.	K|Q	292|44	ENSP00000248901:E292K|.	ENSP00000248901:E292K|.	E|R	+|+	1|2	0|0	CYTH4|CYTH4	36037040|36037040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.751000|7.751000	0.85126|0.85126	2.309000|2.309000	0.77851|0.77851	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1	0			22:37707094
RIMS1	22999	broad.mit.edu	37	6	73102486	73102486	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:73102486G>A	ENST00000521978.1	+	31	4592	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1380H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1531					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGTTGGCCGCCAAACCCTT	0.388																																						ENST00000264839.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4138-4140)cGc>cAc		regulating synaptic membrane exocytosis 1							84.0	80.0	81.0					6																	73102486		1838	4101	5939	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73102486G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4592G>A	6.37:g.73102486G>A	ENSP00000428417:p.Arg1531His	False	False		Somatic	0				RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1531H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H	p.R1380H			WXS	Illumina HiSeq	Phase_I	Q86UR5	RIMS1_HUMAN			27	4139	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1531			Ser-rich.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4139G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.433069|5.433069	0.96150|0.96150	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.42513	.|0.97;2.14;2.07;2.15;2.35;2.38;2.37;2.02;2.1;2.37;2.29;1.43;2.28;1.74;1.7;1.99	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.65801|0.65801	0.2726|0.2726	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.985;0.999;1.0;0.999;1.0;0.999;0.999;0.998;1.0;0.998	.|D;D;D;P;D;D;D;D;D;D;D;D;D	.|0.87578	.|0.995;0.991;0.978;0.825;0.988;0.996;0.981;0.998;0.984;0.987;0.939;0.998;0.939	T|T	0.71434|0.71434	-0.4594|-0.4594	5|10	.|0.87932	.|D	.|0	-10.7348|-10.7348	19.3783|19.3783	0.94521|0.94521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;337;665;656;1380;851;1130;434;1210;1314;607;1354;1531	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	T|H	449|1354;1380;1354;1314;1210;1130;1380;1314;1210;1181;1130;1531;851;656;599;696;665;579;337;58	.|ENSP00000430101:R1354H;ENSP00000275037:R1314H;ENSP00000264839:R1380H;ENSP00000429959:R1314H;ENSP00000430408:R1210H;ENSP00000430502:R1181H;ENSP00000430932:R1130H;ENSP00000428417:R1531H;ENSP00000385649:R851H;ENSP00000428328:R656H;ENSP00000411235:R599H;ENSP00000389503:R696H;ENSP00000428367:R665H;ENSP00000359448:R579H;ENSP00000439730:R337H;ENSP00000402273:R58H	.|ENSP00000264839:R1380H	A|R	+|+	1|2	0|0	RIMS1|RIMS1	73159207|73159207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.982000|0.982000	0.71751|0.71751	9.869000|9.869000	0.99810|0.99810	2.582000|2.582000	0.87167|0.87167	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	0			6:73102486
USP43	124739	broad.mit.edu	37	17	9631939	9631939	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:9631939G>A	ENST00000285199.7	+	15	3100	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.V997M	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1002					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCTGAGGTCCGTGTTTCGGAA	0.602																																						ENST00000285199.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(3004-3006)Gtg>Atg		ubiquitin specific peptidase 43							34.0	38.0	37.0					17																	9631939		1961	4142	6103	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631939G>A	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3004G>A	17.37:g.9631939G>A	ENSP00000285199:p.Val1002Met	False	False		Somatic	0				USP43_ENST00000570475.1_Missense_Mutation_p.V997M|USP43_ENST00000570827.2_3'UTR	p.V1002M	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	WXS	Illumina HiSeq	Phase_I	Q70EL4	UBP43_HUMAN			15	3100	+			NA					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.3004G>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	6.121	0.390479	0.11581	.	.	ENSG00000154914	ENST00000285199	T	0.10192	2.9	5.24	-0.892	0.10570	.	7.908350	0.00166	N	0.000002	T	0.10723	0.0262	L	0.57536	1.79	0.18873	N	0.999985	B;P;B;P	0.42757	0.297;0.668;0.297;0.789	B;B;B;B	0.27500	0.023;0.055;0.023;0.08	T	0.46162	-0.9211	10	0.51188	T	0.08	-12.3583	8.6472	0.34013	0.4535:0.0:0.5465:0.0	.	997;691;1002;514	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	M	1002	ENSP00000285199:V1002M	ENSP00000285199:V1002M	V	+	1	0	USP43	9572664	0.014000	0.17966	0.378000	0.26068	0.003000	0.03518	0.017000	0.13399	-0.027000	0.13873	-0.768000	0.03414	GTG		0.602	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	0	NM_153210		17:9631939
PHYKPL	85007	broad.mit.edu	37	5	177657001	177657001	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:177657001G>A	ENST00000308158.5	-	3	512	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PHYKPL_ENST00000476170.2_Missense_Mutation_p.A93V|PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	93						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CAGCCTCTGCGCATAGTCCAC	0.582																																						ENST00000308158.5		NA																	0					NA						c.(277-279)gCg>gTg		5-phosphohydroxy-L-lysine phospho-lyase							127.0	116.0	119.0					5																	177657001		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177657001G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.278C>T	5.37:g.177657001G>A	ENSP00000310978:p.Ala93Val	False	False		Somatic	0				PHYKPL_ENST00000481811.1_Intron|PHYKPL_ENST00000476170.2_Missense_Mutation_p.A93V	p.A93V	NM_153373.2	NP_699204.1	WXS	Illumina HiSeq	Phase_I					3	512	-			NA					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.278C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082507	0.94050	.	.	ENSG00000175309	ENST00000308158;ENST00000323594;ENST00000476170	T;T;T	0.53857	1.65;0.6;1.65	5.26	5.26	0.73747	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.108809	0.64402	D	0.000007	T	0.79305	0.4423	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.84816	0.0793	10	0.62326	D	0.03	-7.4134	16.723	0.85415	0.0:0.0:1.0:0.0	.	93	Q8IUZ5	AT2L2_HUMAN	V	93;107;93	ENSP00000310978:A93V;ENSP00000321290:A107V;ENSP00000421810:A93V	ENSP00000310978:A93V	A	-	2	0	AGXT2L2	177589607	1.000000	0.71417	0.423000	0.26634	0.946000	0.59487	9.783000	0.99037	2.632000	0.89209	0.561000	0.74099	GCG		0.582	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	0	NM_032921		5:177657001
DNMT3A	1788	broad.mit.edu	37	2	25471001	25471001	+	Missense_Mutation	SNP	C	C	T	rs201097136		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:25471001C>T	ENST00000264709.3	-	7	1097	c.760G>A	c.(760-762)Gca>Aca	p.A254T	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	254	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGGGATGCGGGGTCAGTG	0.627			"""Mis, F, N, S"""		AML								C|||	1	0.000199681	0.0	0.0	5008	,	,		15713	0.0		0.001	False		,,,				2504	0.0					ENST00000264709.3		NA		Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(760-762)Gca>Aca		DNA (cytosine-5-)-methyltransferase 3 alpha							62.0	65.0	64.0					2																	25471001		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25471001C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.760G>A	2.37:g.25471001C>T	ENSP00000264709:p.Ala254Thr	True	False		Somatic	0				DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T	p.A254T	NM_175629.2	NP_783328.1	WXS	Illumina HiSeq	Phase_I	Q9Y6K1	DNM3A_HUMAN			7	1097	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		254			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.760G>A	CCDS33157.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.5	4.928743	0.92389	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.93366	-3.21;-3.2;-3.2;-3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	N	0.24115	0.695	0.80722	D	1	P;D	0.61080	0.846;0.989	B;P	0.46917	0.071;0.531	D	0.89436	0.3720	10	0.31617	T	0.26	-4.9539	18.2356	0.89948	0.0:1.0:0.0:0.0	.	254;65	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	T	65;254;254;31	ENSP00000370122:A65T;ENSP00000324375:A254T;ENSP00000264709:A254T;ENSP00000384237:A31T	ENSP00000264709:A254T	A	-	1	0	DNMT3A	25324505	1.000000	0.71417	0.319000	0.25293	0.901000	0.52897	7.054000	0.76649	2.653000	0.90120	0.563000	0.77884	GCA		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	0	NM_022552		2:25471001
WDR44	54521	broad.mit.edu	37	X	117527019	117527019	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:117527019C>T	ENST00000254029.3	+	4	1006	c.611C>T	c.(610-612)gCc>gTc	p.A204V	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488																																						ENST00000254029.3		NA																	2	Substitution - Missense(2)	p.A204G(2)	lung(2)	breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(610-612)gCc>gTc		WD repeat domain 44							144.0	125.0	132.0					X																	117527019		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527019C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.611C>T	X.37:g.117527019C>T	ENSP00000254029:p.Ala204Val	False	False		Somatic	0				WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.A179V	p.A204V	NM_019045.4	NP_061918.3	WXS	Illumina HiSeq	Phase_I	Q5JSH3	WDR44_HUMAN			4	1006	+			204					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.611C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677788	0.14841	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.73152	-0.72;-0.14;-0.02	5.69	2.87	0.33458	.	0.693990	0.14300	N	0.328333	T	0.50497	0.1619	N	0.19112	0.55	0.21473	N	0.999679	B;B;B	0.18166	0.026;0.01;0.007	B;B;B	0.23419	0.046;0.022;0.015	T	0.36962	-0.9726	10	0.33940	T	0.23	-0.7721	2.9206	0.05767	0.1398:0.5526:0.1462:0.1614	.	179;204;204	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	V	179;204;204	ENSP00000360887:A179V;ENSP00000254029:A204V;ENSP00000360890:A204V	ENSP00000254029:A204V	A	+	2	0	WDR44	117411047	0.995000	0.38212	0.182000	0.23118	0.191000	0.23601	0.769000	0.26604	0.153000	0.19213	-0.253000	0.11424	GCC		0.488	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	0	NM_019045		X:117527019
HIST1H2BK	85236	broad.mit.edu	37	6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4		NA																	0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106.0	96.0	99.0					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp	False	False		Somatic	0				HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	WXS	Illumina HiSeq	Phase_I	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	0	NM_080593		6:27114417
TLR1	7096	broad.mit.edu	37	4	38799732	38799732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:38799732G>A	ENST00000502213.2	-	3	950	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q241*			Q15399	TLR1_HUMAN	toll-like receptor 1	241					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGATTTGTTTGAAGTTTCGCC	0.348																																					GBM(5;216 373 40795 46382)	ENST00000308979.2		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(721-723)Caa>Taa		toll-like receptor 1							59.0	65.0	63.0					4																	38799732		2203	4299	6502	SO:0001587	stop_gained	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799732G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.721C>T	4.37:g.38799732G>A	ENSP00000421259:p.Gln241*	True	False		Somatic	0				TLR1_ENST00000502213.2_Nonsense_Mutation_p.Q241*	p.Q241*	NM_003263.3	NP_003254.2	WXS	Illumina HiSeq	Phase_I	Q15399	TLR1_HUMAN			4	994	-			241					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	37	c.721C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798266	0.70567	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	4.69	0.633	0.17712	.	1.133800	0.06641	N	0.761075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.2911	0.37786	0.0:0.11:0.2678:0.6222	.	.	.	.	X	241	.	ENSP00000354932:Q241X	Q	-	1	0	TLR1	38476127	0.050000	0.20438	0.077000	0.20336	0.001000	0.01503	0.818000	0.27295	0.259000	0.21709	-0.169000	0.13324	CAA		0.348	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	0			4:38799732
OXNAD1	92106	broad.mit.edu	37	3	16312479	16312479	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:16312479T>G	ENST00000285083.5	+	3	485	c.20T>G	c.(19-21)aTg>aGg	p.M7R	OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	7						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GCTGCTGTTATGATTCCTGGG	0.458																																						ENST00000285083.5		NA																	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						c.(19-21)aTg>aGg		oxidoreductase NAD-binding domain containing 1							201.0	188.0	193.0					3																	16312479		2203	4300	6503	SO:0001583	missense	92106						oxidoreductase activity	g.chr3:16312479T>G	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.20T>G	3.37:g.16312479T>G	ENSP00000285083:p.Met7Arg	False	False		Somatic	0				OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R	p.M7R	NM_138381.3	NP_612390.1	WXS	Illumina HiSeq	Phase_I	Q96HP4	OXND1_HUMAN			3	485	+			7					Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	c.20T>G	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366861	0.24771	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.22134	2.29;1.97;2.25	5.07	2.62	0.31277	.	1.342610	0.04581	N	0.394909	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.25405	0.06;0.027	T	0.36456	-0.9747	10	0.72032	D	0.01	-16.2189	9.2363	0.37468	0.0:0.0:0.3581:0.6419	.	25;7	F5H620;Q96HP4	.;OXND1_HUMAN	R	7;7;25	ENSP00000285083:M7R;ENSP00000389872:M7R;ENSP00000437967:M25R	ENSP00000285083:M7R	M	+	2	0	OXNAD1	16287483	0.009000	0.17119	0.002000	0.10522	0.181000	0.23173	0.823000	0.27366	0.377000	0.24735	-0.313000	0.08912	ATG		0.458	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	0	NM_138381		3:16312479
TJP2	9414	broad.mit.edu	37	9	71866162	71866162	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:71866162G>C	ENST00000377245.4	+	21	3411	c.3203G>C	c.(3202-3204)aGt>aCt	p.S1068T	TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1068					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGAGAGAGCAGTGAGGAGCAA	0.512																																						ENST00000377245.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3202-3204)aGt>aCt		tight junction protein 2							81.0	76.0	78.0					9																	71866162		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71866162G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3203G>C	9.37:g.71866162G>C	ENSP00000366453:p.Ser1068Thr	False	False		Somatic	0				TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T	p.S1068T	NM_004817.3	NP_004808.2	WXS	Illumina HiSeq	Phase_I	Q9UDY2	ZO2_HUMAN			21	3411	+			1068					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.3203G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	3.985	-0.005558	0.07773	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	T;T;T	0.08634	3.08;3.07;3.13	6.17	-1.69	0.08186	.	0.777732	0.12506	N	0.462854	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.43048	-0.9415	10	0.22109	T	0.4	.	0.2337	0.00183	0.244:0.2391:0.234:0.2829	.	1099;1035;1068	F5H301;F5H886;Q9UDY2	.;.;ZO2_HUMAN	T	1068;1035;1099	ENSP00000366453:S1068T;ENSP00000442090:S1035T;ENSP00000438262:S1099T	ENSP00000366453:S1068T	S	+	2	0	TJP2	71055982	0.000000	0.05858	0.003000	0.11579	0.337000	0.28794	-0.333000	0.07894	-0.348000	0.08286	-0.176000	0.13171	AGT		0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	0	NM_201629		9:71866162
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_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
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557																																						ENST00000265983.3		NA																	0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1084-1086)gCg>gTg		hemopexin							76.0	78.0	78.0					11																	6452915		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452915G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1085C>T	11.37:g.6452915G>A	ENSP00000265983:p.Ala362Val	False	False		Somatic	0					p.A362V	NM_000613.2	NP_000604.1	WXS	Illumina HiSeq	Phase_I	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1185	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	362					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1085C>T	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336128	0.81801	.	.	ENSG00000110169	ENST00000265983	T	0.20200	2.09	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.54463	-0.8290	10	0.87932	D	0	-12.4094	17.1339	0.86734	0.0:0.0:1.0:0.0	.	362	P02790	HEMO_HUMAN	V	362	ENSP00000265983:A362V	ENSP00000265983:A362V	A	-	2	0	HPX	6409491	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCG		0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	0	NM_000613		11:6452915
KRTAP3-1	83896	broad.mit.edu	37	17	39165249	39165249	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:39165249G>A	ENST00000391588.1	-	1	117	c.78C>T	c.(76-78)tgC>tgT	p.C26C	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	26	4 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCCACAGCGGCAGCTTTTAT	0.592																																						ENST00000391588.1		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(76-78)tgC>tgT		keratin associated protein 3-1							85.0	88.0	87.0					17																	39165249		2203	4296	6499	SO:0001819	synonymous_variant	83896					keratin filament	structural molecule activity	g.chr17:39165249G>A	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.78C>T	17.37:g.39165249G>A		False	False		Somatic	0				KRTAP3-1_ENST00000581033.1_5'UTR	p.C26C	NM_031958.1	NP_114164.1	WXS	Illumina HiSeq	Phase_I	Q9BYR8	KRA31_HUMAN			1	117	-		Breast(137;0.00043)	26			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Silent	SNP	ENST00000391588.1	37	c.78C>T	CCDS32645.1																																																																																				0.592	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1	0			17:39165249
JPH3	57338	broad.mit.edu	37	16	87636931	87636931	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:87636931C>A	ENST00000284262.2	+	1	421	c.179C>A	c.(178-180)aCg>aAg	p.T60K	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	60	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCGGCAACACGTACCAGGGC	0.677																																						ENST00000284262.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(178-180)aCg>aAg		junctophilin 3							37.0	35.0	35.0					16																	87636931		2198	4298	6496	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636931C>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.179C>A	16.37:g.87636931C>A	ENSP00000284262:p.Thr60Lys	False	False		Somatic	0					p.T60K	NM_020655.2	NP_065706.2	WXS	Illumina HiSeq	Phase_I	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	421	+			60			Gly-rich.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.179C>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048418	0.75846	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.55930	0.49	4.07	4.07	0.47477	.	0.177447	0.47852	D	0.000213	T	0.40670	0.1126	N	0.04787	-0.16	0.58432	D	0.999998	B	0.22851	0.076	B	0.39771	0.309	T	0.38520	-0.9657	10	0.30854	T	0.27	.	15.2272	0.73359	0.0:1.0:0.0:0.0	.	60	Q8WXH2	JPH3_HUMAN	K	60	ENSP00000284262:T60K	ENSP00000284262:T60K	T	+	2	0	JPH3	86194432	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.759000	0.38420	1.800000	0.52685	0.462000	0.41574	ACG		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	0			16:87636931
EFHD1	80303	broad.mit.edu	37	2	233546356	233546356	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:233546356G>A	ENST00000264059.3	+	4	1124	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	216					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAAGATGAGCGGAAGCGGGAG	0.542																																						ENST00000264059.3		NA																	0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(646-648)cGg>cAg		EF-hand domain family, member D1							108.0	98.0	101.0					2																	233546356		2203	4300	6503	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233546356G>A		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.647G>A	2.37:g.233546356G>A	ENSP00000264059:p.Arg216Gln	False	False		Somatic	0				EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q	p.R216Q	NM_025202.3	NP_079478.1	WXS	Illumina HiSeq	Phase_I	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1124	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	216					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.647G>A	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827702	0.90955	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.65	3.7	0.42460	.	0.332624	0.29715	N	0.011387	T	0.37376	0.1001	L	0.58302	1.8	0.58432	D	0.999998	P;P	0.44006	0.824;0.824	B;B	0.38156	0.121;0.266	T	0.34104	-0.9842	10	0.52906	T	0.07	-5.5142	11.0327	0.47783	0.0:0.14:0.7149:0.1451	.	120;216	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	Q	120;216;119;104;104	ENSP00000386556:R120Q;ENSP00000264059:R216Q;ENSP00000386243:R104Q;ENSP00000386685:R104Q	ENSP00000264059:R216Q	R	+	2	0	EFHD1	233254600	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.562000	0.36353	1.362000	0.46000	0.586000	0.80456	CGG		0.542	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	0	NM_025202		2:233546356
MYT1	4661	broad.mit.edu	37	20	62843476	62843476	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:62843476G>A	ENST00000328439.1	+	9	1866	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MYT1_ENST00000360149.4_Missense_Mutation_p.R203H|MYT1_ENST00000536311.1_Missense_Mutation_p.R501H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R501H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGCAACCGCAACACGCAC	0.662																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1		NA																	1	Substitution - Missense(1)	p.R501H(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1501-1503)cGc>cAc		myelin transcription factor 1							118.0	111.0	113.0					20																	62843476		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62843476G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1502G>A	20.37:g.62843476G>A	ENSP00000327465:p.Arg501His	False	False		Somatic	0				MYT1_ENST00000328439.1_Missense_Mutation_p.R501H|MYT1_ENST00000360149.4_Missense_Mutation_p.R203H	p.R501H			WXS	Illumina HiSeq	Phase_I	Q01538	MYT1_HUMAN			9	1866	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		501					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1502G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717521	0.68844	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.68331	0.55;-0.32;1.55	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.80525	-0.1344	10	0.72032	D	0.01	-24.8969	17.4965	0.87719	0.0:0.0:1.0:0.0	.	501;501;203	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	203;501;501	ENSP00000353269:R203H;ENSP00000327465:R501H;ENSP00000442412:R501H	ENSP00000327465:R501H	R	+	2	0	MYT1	62313920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	CGC		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	NM_004535		20:62843476
IP6K3	117283	broad.mit.edu	37	6	33690692	33690692	+	Silent	SNP	G	G	A	rs375114410		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:33690692G>A	ENST00000293756.4	-	6	1364	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	IP6K3_ENST00000451316.1_Silent_p.H346H	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	346					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGGGAGCCTCGTGAGGATGCG	0.557																																						ENST00000451316.1		NA																	0				skin(1)	1						c.(1036-1038)caC>caT		inositol hexakisphosphate kinase 3		G	,	0,4406		0,0,2203	80.0	80.0	80.0		1038,1038	3.1	0.0	6		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	346/411,346/411	33690692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690692G>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1038C>T	6.37:g.33690692G>A		False	False		Somatic	0				IP6K3_ENST00000293756.4_Silent_p.H346H	p.H346H	NM_001142883.1	NP_001136355.1	WXS	Illumina HiSeq	Phase_I	Q96PC2	IP6K3_HUMAN			7	1573	-			346					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.1038C>T	CCDS34435.1																																																																																				0.557	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	0	NM_054111		6:33690692
AGO1	26523	broad.mit.edu	37	1	36359375	36359375	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:36359375C>T	ENST00000373204.4	+	5	826	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	205					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCAGTCTGTGCGCCCTGCCAT	0.622																																						ENST00000373204.4		NA																	0					NA						c.(613-615)Cgc>Tgc		argonaute RISC catalytic component 1							70.0	68.0	69.0					1																	36359375		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36359375C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.613C>T	1.37:g.36359375C>T	ENSP00000362300:p.Arg205Cys	False	False		Somatic	0				AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	p.R205C	NM_012199.2	NP_036331.1	WXS	Illumina HiSeq	Phase_I					5	826	+			NA					Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.613C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729555	0.69074	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.15487	2.42;2.52	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67643	-0.5618	10	0.87932	D	0	-19.1719	15.6785	0.77349	0.1985:0.8015:0.0:0.0	.	205	Q9UL18	AGO1_HUMAN	C	130;205	ENSP00000362302:R130C;ENSP00000362300:R205C	ENSP00000362300:R205C	R	+	1	0	EIF2C1	36131962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.086000	0.41643	2.818000	0.97014	0.591000	0.81541	CGC		0.622	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3	0			1:36359375
MC3R	4159	broad.mit.edu	37	20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517																																						ENST00000243911.2		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)cGc>cAc		melanocortin 3 receptor							168.0	160.0	163.0					20																	54824819		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824819G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His	False	False		Somatic	0					p.R307H	NM_019888.3	NP_063941.3	WXS	Illumina HiSeq	Phase_I	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1032	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.920G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	0			20:54824819
PKD2L1	9033	broad.mit.edu	37	10	102056026	102056026	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:102056026G>A	ENST00000318222.3	-	7	1591	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	403					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGAATATGTGGAAGCCCACAG	0.567																																						ENST00000318222.3		NA																	0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1207-1209)ttC>ttT		polycystic kidney disease 2-like 1							51.0	49.0	50.0					10																	102056026		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056026G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1209C>T	10.37:g.102056026G>A		False	False		Somatic	0				PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F	p.F403F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina HiSeq	Phase_I	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1591	-		Colorectal(252;0.117)	403					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1209C>T	CCDS7492.1																																																																																				0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	0	NM_016112		10:102056026
SOHLH2	54937	broad.mit.edu	37	13	36744911	36744911	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:36744911G>A	ENST00000379881.3	-	10	1102	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S|SOHLH2_ENST00000554962.1_Silent_p.S415S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	338					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCTCTGAGGCGGAGCTTGATG	0.388																																						ENST00000379881.3		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1012-1014)tcC>tcT		spermatogenesis and oogenesis specific basic helix-loop-helix 2							98.0	96.0	97.0					13																	36744911		2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36744911G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1014C>T	13.37:g.36744911G>A		False	False		Somatic	0				SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S	p.S338S	NM_017826.2	NP_060296.2	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	10	1102	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	NA					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.1014C>T	CCDS9355.1																																																																																				0.388	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	0	NM_017826		13:36744911
SCRIB	23513	broad.mit.edu	37	8	144896264	144896264	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:144896264G>A	ENST00000320476.3	-	2	190	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	SCRIB_ENST00000356994.2_Missense_Mutation_p.R62C|MIR937_ENST00000401271.1_RNA|PUF60_ENST00000524570.1_5'Flank|SCRIB_ENST00000377533.3_5'UTR	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	62	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCAGCTTGCGCAAGTTCAGC	0.617																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(184-186)Cgc>Tgc		scribbled planar cell polarity protein							46.0	38.0	41.0					8																	144896264		2171	4268	6439	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144896264G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.184C>T	8.37:g.144896264G>A	ENSP00000322938:p.Arg62Cys	False	False		Somatic	0				SCRIB_ENST00000320476.3_Missense_Mutation_p.R62C|SCRIB_ENST00000377533.3_5'UTR	p.R62C	NM_182706.4	NP_874365	WXS	Illumina HiSeq	Phase_I	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		2	190	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		62			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.184C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873069	0.51695	.	.	ENSG00000180900	ENST00000356994;ENST00000320476	T;T	0.58940	0.3;0.3	4.49	-0.207	0.13189	.	.	.	.	.	T	0.74222	0.3688	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77180	-0.2682	9	0.87932	D	0	.	13.3897	0.60816	0.0:0.0:0.392:0.608	.	62;62	Q14160;Q14160-3	SCRIB_HUMAN;.	C	62	ENSP00000349486:R62C;ENSP00000322938:R62C	ENSP00000322938:R62C	R	-	1	0	SCRIB	144968252	1.000000	0.71417	0.263000	0.24496	0.577000	0.36160	2.833000	0.48159	0.094000	0.17404	-0.182000	0.12963	CGC		0.617	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	0	NM_015356		8:144896264
TERT	7015	broad.mit.edu	37	5	1260644	1260644	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1260644C>T	ENST00000310581.5	-	12	2972	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.R909H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	972	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AAAGAGTTTGCGACGCATGTT	0.562									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2914-2916)cGc>cAc		telomerase reverse transcriptase							113.0	126.0	122.0					5																	1260644		2132	4226	6358	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1260644C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2915G>A	5.37:g.1260644C>T	ENSP00000309572:p.Arg972His	False	False		Somatic	0				TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR	p.R972H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	WXS	Illumina HiSeq	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	2972	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		972			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2915G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602786	0.13939	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.65549	-0.16;-0.16	4.53	-0.866	0.10659	.	0.610202	0.16470	N	0.213001	T	0.47507	0.1449	L	0.61387	1.9	0.09310	N	1	P;P	0.42078	0.589;0.77	B;B	0.27500	0.053;0.08	T	0.38779	-0.9645	10	0.45353	T	0.12	-10.2335	9.3037	0.37863	0.0:0.3498:0.0:0.6502	.	909;972	O14746-3;O14746	.;TERT_HUMAN	H	972;909	ENSP00000309572:R972H;ENSP00000334346:R909H	ENSP00000309572:R972H	R	-	2	0	TERT	1313644	0.011000	0.17503	0.241000	0.24154	0.257000	0.26127	-0.013000	0.12678	-0.092000	0.12417	-0.258000	0.10820	CGC		0.562	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0			5:1260644
FANCM	57697	broad.mit.edu	37	14	45658329	45658329	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:45658329G>T	ENST00000267430.5	+	20	5189	c.5104G>T	c.(5104-5106)Gac>Tac	p.D1702Y	FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1702					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAACAACAGGACCATTGTTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5104-5106)Gac>Tac	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							116.0	114.0	114.0					14																	45658329		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658329G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5104G>T	14.37:g.45658329G>T	ENSP00000267430:p.Asp1702Tyr	False	False		Somatic	0				FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y	p.D1702Y	NM_020937.2	NP_065988.1	WXS	Illumina HiSeq	Phase_I	Q8IYD8	FANCM_HUMAN			20	5189	+			1702					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5104G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627860|2.627860	0.46944|0.46944	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.83|4.83	2.99|2.99	0.34606|0.34606	.|.	1.959200|.	0.02691|.	N|.	0.110584|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D|.	0.56521|.	0.976;0.976|.	P;P|.	0.47744|.	0.556;0.556|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.54805|.	T|.	0.06|.	.|.	7.073|7.073	0.25189|0.25189	0.2863:0.0:0.7137:0.0|0.2863:0.0:0.7137:0.0	.|.	1676;1702|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	Y|V	1702;1676;1218|634	ENSP00000267430:D1702Y;ENSP00000442493:D1676Y;ENSP00000452033:D1218Y|.	ENSP00000267430:D1702Y|.	D|G	+|+	1|2	0|0	FANCM|FANCM	44728079|44728079	0.290000|0.290000	0.24343|0.24343	0.001000|0.001000	0.08648|0.08648	0.313000|0.313000	0.28021|0.28021	1.643000|1.643000	0.37217|0.37217	0.565000|0.565000	0.29255|0.29255	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	XM_048128		14:45658329
PCDHB10	56126	broad.mit.edu	37	5	140573626	140573626	+	Missense_Mutation	SNP	G	G	A	rs139403329	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140573626G>A	ENST00000239446.4	+	1	1685	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.682													G|||	6	0.00119808	0.0	0.0	5008	,	,		17329	0.006		0.0	False		,,,				2504	0.0					ENST00000239446.4		NA																	0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1501-1503)Gcc>Acc				G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	107.0	102.0		1501	-0.9	0.0	5	dbSNP_134	102	0,8598		0,0,4299	no	missense	PCDHB10	NM_018930.3	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	501/801	140573626	1,13003	2203	4299	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573626G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1501G>A	5.37:g.140573626G>A	ENSP00000239446:p.Ala501Thr	False	False		Somatic	0					p.A501T	NM_018930.3	NP_061753.1	WXS	Illumina HiSeq	Phase_I	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1685	+			501			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1501G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.211	0.224416	0.09863	2.27E-4	0.0	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.53	-0.896	0.10557	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.46596	-0.9180	9	0.38643	T	0.18	.	3.3872	0.07276	0.1695:0.1119:0.542:0.1766	.	501	Q9UN67	PCDBA_HUMAN	T	501	ENSP00000239446:A501T	ENSP00000239446:A501T	A	+	1	0	PCDHB10	140553810	0.000000	0.05858	0.002000	0.10522	0.417000	0.31264	-1.722000	0.01868	0.002000	0.14630	-1.227000	0.01581	GCC		0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	NM_018930		5:140573626
CAMSAP3	57662	broad.mit.edu	37	19	7682439	7682439	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:7682439G>A	ENST00000160298.4	+	16	3437	c.3336G>A	c.(3334-3336)ctG>ctA	p.L1112L	CAMSAP3_ENST00000446248.2_Silent_p.L1139L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1112	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTCCACGGCTGTACAAAGAAC	0.597																																						ENST00000446248.2		NA																	0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3415-3417)ctG>ctA		calmodulin regulated spectrin-associated protein family, member 3							80.0	83.0	82.0					19																	7682439		2076	4213	6289	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682439G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3336G>A	19.37:g.7682439G>A		False	False		Somatic	0				CAMSAP3_ENST00000160298.4_Silent_p.L1112L	p.L1139L	NM_001080429.2	NP_001073898.1	WXS	Illumina HiSeq	Phase_I	Q9P1Y5	CAMP3_HUMAN			18	3518	+			1112			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3417G>A	CCDS42489.1																																																																																				0.597	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	0	XM_048362		19:7682439
MYO1D	4642	broad.mit.edu	37	17	31082528	31082528	+	Silent	SNP	G	G	A	rs576692452	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:31082528G>A	ENST00000318217.5	-	11	1753	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	MYO1D_ENST00000394649.4_Silent_p.A395A|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Silent_p.A483A	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	483	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGGAAAAATGGGCGTGTTTGC	0.393																																						ENST00000318217.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1447-1449)gcC>gcT		myosin ID							123.0	111.0	115.0					17																	31082528		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082528G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1449C>T	17.37:g.31082528G>A		True	False		Somatic	0				MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A|MYO1D_ENST00000579584.1_Silent_p.A483A	p.A483A	NM_015194.1	NP_056009.1	WXS	Illumina HiSeq	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1753	-			483			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.1449C>T	CCDS32615.1																																																																																				0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	0			17:31082528
ATG9A	79065	broad.mit.edu	37	2	220089227	220089227	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220089227C>T	ENST00000409618.1	-	8	1305	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	289					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACAGGATGCGGTTGCTGAG	0.567																																						ENST00000409618.1		NA																	0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(865-867)cGc>cAc		autophagy related 9A							35.0	43.0	40.0					2																	220089227		2073	4194	6267	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089227C>T	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.866G>A	2.37:g.220089227C>T	ENSP00000386710:p.Arg289His	False	False		Somatic	0				ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H	p.R289H			WXS	Illumina HiSeq	Phase_I	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1305	-		Renal(207;0.0474)	289					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.866G>A	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749084	0.49257	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.39592	1.51;1.51;1.51;1.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.46885	1.475	0.50632	D	0.999889	D	0.89917	1.0	D	0.68353	0.957	T	0.55915	-0.8065	10	0.42905	T	0.14	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	289	Q7Z3C6	ATG9A_HUMAN	H	289;289;289;228	ENSP00000379983:R289H;ENSP00000386710:R289H;ENSP00000355173:R289H;ENSP00000386535:R228H	ENSP00000355173:R289H	R	-	2	0	ATG9A	219797471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.481000	0.83766	0.655000	0.94253	CGC		0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	0	NM_024085		2:220089227
UTP20	27340	broad.mit.edu	37	12	101760468	101760468	+	Silent	SNP	C	C	T	rs112368779		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:101760468C>T	ENST00000261637.4	+	47	6432	c.6258C>T	c.(6256-6258)tcC>tcT	p.S2086S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2086					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATTGAGTCCGGGCTTCGGG	0.458																																						ENST00000261637.4		NA																	0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6256-6258)tcC>tcT		UTP20, small subunit (SSU) processome component, homolog (yeast)							124.0	123.0	123.0					12																	101760468		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760468C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6258C>T	12.37:g.101760468C>T		True	False		Somatic	0					p.S2086S	NM_014503.2	NP_055318.2	WXS	Illumina HiSeq	Phase_I	O75691	UTP20_HUMAN			47	6432	+			2086					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6258C>T	CCDS9081.1																																																																																				0.458	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	0	NM_014503		12:101760468
PADI3	51702	broad.mit.edu	37	1	17593248	17593248	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:17593248G>A	ENST00000375460.3	+	5	483	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGTATGGCGGCATCTTGCTG	0.597																																						ENST00000375460.3		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(442-444)gGc>gAc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						168.0	136.0	147.0					1																	17593248		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17593248G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.443G>A	1.37:g.17593248G>A	ENSP00000364609:p.Gly148Asp	False	False		Somatic	0					p.G148D	NM_016233.2	NP_057317.2	WXS	Illumina HiSeq	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	483	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	148					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.443G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359635	0.61403	.	.	ENSG00000142619	ENST00000375460	T	0.14266	2.52	5.15	4.23	0.50019	Protein-arginine deiminase (PAD), central domain (2);	0.052990	0.85682	D	0.000000	T	0.10423	0.0255	N	0.08118	0	0.38404	D	0.945756	P	0.38335	0.627	B	0.42112	0.376	T	0.27226	-1.0080	10	0.87932	D	0	-23.3232	14.4617	0.67453	0.0:0.8491:0.1509:0.0	.	148	Q9ULW8	PADI3_HUMAN	D	148	ENSP00000364609:G148D	ENSP00000364609:G148D	G	+	2	0	PADI3	17465835	1.000000	0.71417	0.661000	0.29709	0.848000	0.48234	5.229000	0.65316	1.169000	0.42739	-0.270000	0.10280	GGC		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	0			1:17593248
MOG	4340	broad.mit.edu	37	6	29641221	29641221	+	IGR	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:29641221G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000376883.1_Missense_Mutation_p.R203C	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGATGCATGCGTCTGTGATAG	0.537																																						ENST00000376883.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(607-609)Cgc>Tgc		ZFP57 zinc finger protein							91.0	102.0	98.0					6																	29641221		1350	2606	3956	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641221G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641221G>A		True	False		Somatic	0				ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C	p.R203C			WXS	Illumina HiSeq	Phase_I	Q9NU63	ZFP57_HUMAN			6	1018	-			139					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.607C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500590	0.26861	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.57	0.30868	.	0.531595	0.15970	N	0.235819	T	0.20455	0.0492	M	0.83603	2.65	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.46275	0.51;0.51	T	0.05037	-1.0910	10	0.87932	D	0	-10.225	7.8719	0.29571	0.0959:0.1674:0.7367:0.0	.	223;203	Q9NU63-3;Q9NU63-2	.;.	C	223;203;203	ENSP00000418259:R223C;ENSP00000366078:R203C;ENSP00000366080:R203C	ENSP00000366078:R203C	R	-	1	0	ZFP57	29749200	0.000000	0.05858	0.014000	0.15608	0.026000	0.11368	0.838000	0.27572	1.182000	0.42928	0.650000	0.86243	CGC		0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	0	NM_002433		6:29641221
PATZ1	23598	broad.mit.edu	37	22	31740473	31740473	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000405309.3_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																						ENST00000266269.5		NA																EWSR1/PATZ1(2)	2	Substitution - coding silent(2)	p.R372R(2)	kidney(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1114-1116)cgG>cgA		POZ (BTB) and AT hook containing zinc finger 1							113.0	108.0	110.0					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740473C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1116G>A	22.37:g.31740473C>T		False	False		Somatic	0				PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R	p.R372R	NM_014323.2	NP_055138.2	WXS	Illumina HiSeq	Phase_I	Q9HBE1	PATZ1_HUMAN			1	1745	-			372					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1116G>A	CCDS13894.1																																																																																				0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	0	NM_032052		22:31740473
NBPF22P	285622	broad.mit.edu	37	5	85592175	85592175	+	RNA	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:85592175C>T	ENST00000590707.1	+	0	1474					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		ACAACTAAAACGCAAAGCAAG	0.403																																						ENST00000590707.1		NA																	0					NA																																														0							g.chr5:85592175C>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85592175C>T		True	False		Somatic	0						NR_003719.2		WXS	Illumina HiSeq	Phase_I					0	1474	+			NA						RNA	SNP	ENST00000590707.1	37																																																																																						0.403	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	0	XM_208333		5:85592175
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1		NA																	7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	False	False		Somatic	0				KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	WXS	Illumina HiSeq	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	NM_152903		13:41705440
ZMIZ2	83637	broad.mit.edu	37	7	44805162	44805162	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44805162C>G	ENST00000309315.4	+	16	2349	c.2226C>G	c.(2224-2226)agC>agG	p.S742R	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	742	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCCCCCAGCGACTACCCTG	0.657																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2224-2226)agC>agG		zinc finger, MIZ-type containing 2							12.0	13.0	13.0					7																	44805162		1788	3903	5691	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805162C>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2226C>G	7.37:g.44805162C>G	ENSP00000311778:p.Ser742Arg	False	False		Somatic	0				ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R	p.S742R	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			16	2349	+			742			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2226C>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266217	0.40095	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.33865	1.4;1.39;1.39;1.39;1.41	5.14	-0.476	0.12100	.	0.724500	0.13304	N	0.398004	T	0.29914	0.0748	L	0.59436	1.845	0.32588	N	0.527618	B;P;B	0.37141	0.009;0.584;0.409	B;B;B	0.37833	0.017;0.259;0.203	T	0.36237	-0.9756	10	0.39692	T	0.17	-2.9204	5.127	0.14890	0.1374:0.4536:0.0:0.409	.	716;742;684	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	R	684;742;742;710;716;745	ENSP00000409648:S684R;ENSP00000311778:S742R;ENSP00000414723:S742R;ENSP00000396601:S710R;ENSP00000265346:S716R	ENSP00000265346:S716R	S	+	3	2	ZMIZ2	44771687	0.000000	0.05858	0.735000	0.30896	0.987000	0.75469	-2.469000	0.00992	0.016000	0.14998	0.561000	0.74099	AGC		0.657	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44805162
C14orf93	60686	broad.mit.edu	37	14	23467783	23467783	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:23467783G>A	ENST00000299088.6	-	2	879	c.450C>T	c.(448-450)agC>agT	p.S150S	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000341470.4_Silent_p.S150S|C14orf93_ENST00000397382.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397379.3_Silent_p.S150S|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	150						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCTGCACGCCGCTGCCCACGC	0.637																																						ENST00000299088.6		NA																	0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(448-450)agC>agT		chromosome 14 open reading frame 93							37.0	37.0	37.0					14																	23467783		2203	4300	6503	SO:0001819	synonymous_variant	60686					extracellular region		g.chr14:23467783G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.450C>T	14.37:g.23467783G>A		False	False		Somatic	0				C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000341470.4_Silent_p.S150S|C14orf93_ENST00000397382.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.S150S	p.S150S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	WXS	Illumina HiSeq	Phase_I	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	879	-	all_cancers(95;3.3e-05)		150					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	c.450C>T	CCDS9583.1																																																																																				0.637	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	0	NM_021944		14:23467783
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582																																						ENST00000324642.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 18							147.0	147.0	147.0					5																	1244416		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244416C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val	False	False		Somatic	0				SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	p.A475V	NM_182632.2	NP_872438.2	WXS	Illumina HiSeq	Phase_I	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1547	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		475						Missense_Mutation	SNP	ENST00000324642.3	37	c.1424C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC		0.582	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	0	NM_182632		5:1244416
FAM71B	153745	broad.mit.edu	37	5	156589868	156589868	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:156589868C>T	ENST00000302938.4	-	2	1503	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	470						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCCAGATGCGGACCGGTGG	0.532																																						ENST00000302938.4		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1408-1410)Gca>Aca		family with sequence similarity 71, member B							204.0	194.0	197.0					5																	156589868		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589868C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1408G>A	5.37:g.156589868C>T	ENSP00000305596:p.Ala470Thr	False	False		Somatic	0					p.A470T	NM_130899.2	NP_570969.2	WXS	Illumina HiSeq	Phase_I	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1503	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	470					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1408G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032795	0.19590	.	.	ENSG00000170613	ENST00000302938	T	0.19806	2.12	4.64	-9.28	0.00656	.	1.737350	0.03907	N	0.281301	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22906	-1.0203	10	0.23302	T	0.38	0.0025	4.3119	0.10974	0.1338:0.5568:0.1468:0.1627	.	470	Q8TC56	FA71B_HUMAN	T	470	ENSP00000305596:A470T	ENSP00000305596:A470T	A	-	1	0	FAM71B	156522446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.937000	0.01547	-2.061000	0.00892	-1.268000	0.01426	GCA		0.532	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	NM_130899		5:156589868
WDR90	197335	broad.mit.edu	37	16	711075	711075	+	Missense_Mutation	SNP	G	G	A	rs377695532		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:711075G>A	ENST00000293879.4	+	29	3416	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	WDR90_ENST00000549091.1_Missense_Mutation_p.R1139H			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1139										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGTGCGGCCGCCTGGTGGTG	0.746																																						ENST00000549091.1		NA																	0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3415-3417)cGc>cAc		WD repeat domain 90		G	HIS/ARG	1,3813		0,1,1906	7.0	9.0	9.0		3416	3.0	0.6	16		9	0,8202		0,0,4101	no	missense	WDR90	NM_145294.4	29	0,1,6007	AA,AG,GG		0.0,0.0262,0.0083	benign	1139/1749	711075	1,12015	1907	4101	6008	SO:0001583	missense	197335							g.chr16:711075G>A	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.3416G>A	16.37:g.711075G>A	ENSP00000293879:p.Arg1139His	False	False		Somatic	0				WDR90_ENST00000293879.4_Missense_Mutation_p.R1139H	p.R1139H	NM_145294.4	NP_660337.3	WXS	Illumina HiSeq	Phase_I	Q96KV7	WDR90_HUMAN			29	3508	+		Hepatocellular(780;0.0218)	1139					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.3416G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648178	0.29336	2.62E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.42513	1.55;0.97	4.96	3.0	0.34707	Quinonprotein alcohol dehydrogenase-like (1);	0.436630	0.26072	N	0.026520	T	0.24236	0.0587	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.03807	-1.1002	10	0.42905	T	0.14	.	10.5167	0.44894	0.1582:0.0:0.8418:0.0	.	1139;1139	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	1139	ENSP00000448122:R1139H;ENSP00000293879:R1139H	ENSP00000293879:R1139H	R	+	2	0	WDR90	651076	0.817000	0.29147	0.620000	0.29132	0.104000	0.19210	4.351000	0.59398	0.619000	0.30197	-0.671000	0.03813	CGC		0.746	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	NM_145294		16:711075
MMP26	56547	broad.mit.edu	37	11	5009493	5009493	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:5009493G>A	ENST00000380390.1	+	2	268	c.52G>A	c.(52-54)Gtt>Att	p.V18I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Missense_Mutation_p.V18I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	18					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTGTTTCGCCGTTCCAGTGCC	0.493																																						ENST00000380390.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(52-54)Gtt>Att		matrix metallopeptidase 26							271.0	216.0	235.0					11																	5009493		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009493G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.52G>A	11.37:g.5009493G>A	ENSP00000369753:p.Val18Ile	False	False		Somatic	0				MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron	p.V18I			WXS	Illumina HiSeq	Phase_I	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	268	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	18					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.52G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	g	3.577	-0.086437	0.07097	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26067	1.76;1.76	3.3	-6.6	0.01824	.	0.975329	0.08322	N	0.963623	T	0.06872	0.0175	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.35671	T	0.21	0.1393	2.2024	0.03927	0.2392:0.4375:0.1215:0.2018	.	18	Q9NRE1	MMP26_HUMAN	I	18	ENSP00000369753:V18I;ENSP00000300762:V18I	ENSP00000300762:V18I	V	+	1	0	MMP26	4966069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.164000	0.01275	-2.497000	0.00513	-4.594000	0.00004	GTT		0.493	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	0	NM_021801		11:5009493
B4GALNT3	283358	broad.mit.edu	37	12	667679	667679	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:667679G>A	ENST00000266383.5	+	18	2626	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAGGACCCGCACAGCATCA	0.587																																						ENST00000266383.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2611-2613)ccG>ccA		beta-1,4-N-acetyl-galactosaminyl transferase 3							174.0	150.0	158.0					12																	667679		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667679G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2613G>A	12.37:g.667679G>A		True	False		Somatic	0					p.P871P	NM_173593.3	NP_775864.3	WXS	Illumina HiSeq	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2626	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		871					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2613G>A	CCDS8504.1																																																																																				0.587	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	0	NM_173593		12:667679
IL18RAP	8807	broad.mit.edu	37	2	103068507	103068507	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:103068507C>T	ENST00000264260.2	+	12	2255	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	556	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGCCAAAATGCGCTACCACAT	0.453																																						ENST00000264260.2		NA																	0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1666-1668)Cgc>Tgc		interleukin 18 receptor accessory protein							138.0	149.0	145.0					2																	103068507		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068507C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1666C>T	2.37:g.103068507C>T	ENSP00000264260:p.Arg556Cys	False	False		Somatic	0				IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C	p.R556C	NM_003853.2	NP_003844.1	WXS	Illumina HiSeq	Phase_I	O95256	I18RA_HUMAN			12	2255	+			556			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1666C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516146	0.27123	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.10668	2.85;2.85	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.425883	0.25004	N	0.033896	T	0.19644	0.0472	M	0.87097	2.86	0.42033	D	0.991036	B	0.34255	0.445	B	0.30029	0.11	T	0.01416	-1.1360	10	0.56958	D	0.05	.	14.657	0.68841	0.0:0.9312:0.0:0.0688	.	556	O95256	I18RA_HUMAN	C	556;414	ENSP00000264260:R556C;ENSP00000387201:R414C	ENSP00000264260:R556C	R	+	1	0	IL18RAP	102434939	0.000000	0.05858	0.506000	0.27664	0.084000	0.17831	0.264000	0.18497	2.857000	0.98124	0.650000	0.86243	CGC		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	0	NM_003853		2:103068507
GMPPA	29926	broad.mit.edu	37	2	220366590	220366590	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220366590C>T	ENST00000358215.3	+	5	629	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V|GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CAGGAATTTGCCCCCCTAGGC	0.592																																						ENST00000358215.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(259-261)gCc>gTc		GDP-mannose pyrophosphorylase A							74.0	70.0	71.0					2																	220366590		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366590C>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.260C>T	2.37:g.220366590C>T	ENSP00000350949:p.Ala87Val	True	False		Somatic	0				GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA	p.A87V	NM_205847.2	NP_995319.1	WXS	Illumina HiSeq	Phase_I	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	629	+		Renal(207;0.0183)	87					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.260C>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284479	0.59867	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142	D;D;D;D;T;T;D	0.93906	-3.31;-3.31;-3.31;-3.31;-0.7;-0.7;-3.31	4.68	3.8	0.43715	Nucleotidyl transferase (1);	0.270854	0.34338	N	0.004044	D	0.88548	0.6466	L	0.33093	0.98	0.40974	D	0.984729	B;P	0.37276	0.001;0.589	B;B	0.35727	0.008;0.209	D	0.87535	0.2455	10	0.54805	T	0.06	-29.327	12.5741	0.56354	0.0:0.9176:0.0:0.0824	.	87;87	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	V	87;87;87;87;87;52;87	ENSP00000315925:A87V;ENSP00000363027:A87V;ENSP00000350949:A87V;ENSP00000363016:A87V;ENSP00000392465:A87V;ENSP00000411060:A52V;ENSP00000340760:A87V	ENSP00000315925:A87V	A	+	2	0	GMPPA	220074834	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	5.950000	0.70265	0.967000	0.38186	0.561000	0.74099	GCC		0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	0	NM_013335		2:220366590
SPRYD3	84926	broad.mit.edu	37	12	53462066	53462066	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:53462066C>T	ENST00000301463.4	-	7	802	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	239										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GATGCTTTTGCCCTTCCCTAA	0.637																																						ENST00000301463.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(715-717)gGc>gAc		SPRY domain containing 3							101.0	101.0	101.0					12																	53462066		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53462066C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.716G>A	12.37:g.53462066C>T	ENSP00000301463:p.Gly239Asp	True	False		Somatic	0				SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D	p.G239D	NM_032840.2	NP_116229.1	WXS	Illumina HiSeq	Phase_I	Q8NCJ5	SPRY3_HUMAN			7	802	-			239					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.716G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152619	0.94645	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.67345	-0.5694	9	0.48119	T	0.1	.	16.5377	0.84377	0.0:1.0:0.0:0.0	.	239	Q8NCJ5	SPRY3_HUMAN	D	239;276	.	ENSP00000301463:G239D	G	-	2	0	SPRYD3	51748333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.218000	0.77991	2.575000	0.86900	0.561000	0.74099	GGC		0.637	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	0	NM_032840		12:53462066
STK38	11329	broad.mit.edu	37	6	36489591	36489591	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:36489591G>A	ENST00000229812.7	-	5	595	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAACAAGCCGTACCTAAAAA	0.353																																					Colon(180;997 3561 16158)	ENST00000229812.7		NA																	0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(310-312)Cgg>Tgg		serine/threonine kinase 38							84.0	91.0	89.0					6																	36489591		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36489591G>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.310C>T	6.37:g.36489591G>A	ENSP00000229812:p.Arg104Trp	False	False		Somatic	0					p.R104W	NM_007271.2	NP_009202.1	WXS	Illumina HiSeq	Phase_I	Q15208	STK38_HUMAN			5	595	-			104			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.310C>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351134	0.82132	.	.	ENSG00000112079	ENST00000229812	T	0.39406	1.08	5.49	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.43475	-0.9389	10	0.87932	D	0	.	14.9777	0.71286	0.0:0.0:0.784:0.216	.	104	Q15208	STK38_HUMAN	W	104	ENSP00000229812:R104W	ENSP00000229812:R104W	R	-	1	2	STK38	36597569	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.289000	0.72696	2.865000	0.98341	0.655000	0.94253	CGG		0.353	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	0	NM_007271		6:36489591
MSH3	4437	broad.mit.edu	37	5	79974874	79974874	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTTGTCCGAGCAAACAGAGG	0.478								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1300-1302)gaG>gaA	Mismatch excision repair (MMR)	mutS homolog 3							137.0	134.0	135.0					5																	79974874		2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79974874G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1302G>A	5.37:g.79974874G>A		False	False		Somatic	0					p.E434E	NM_002439.4	NP_002430.3	WXS	Illumina HiSeq	Phase_I	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	8	1382	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	434					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.1302G>A	CCDS34195.1																																																																																				0.478	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	0	NM_002439		5:79974874
C3	718	broad.mit.edu	37	19	6719298	6719298	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:6719298C>T	ENST00000245907.6	-	2	283	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	64					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TAGTTTTTTGCCTGGGAAGTC	0.592																																						ENST00000245907.6		NA																	0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(190-192)gGc>gAc		complement component 3							236.0	169.0	192.0					19																	6719298		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6719298C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.191G>A	19.37:g.6719298C>T	ENSP00000245907:p.Gly64Asp	False	False		Somatic	0					p.G64D	NM_000064.2	NP_000055.2	WXS	Illumina HiSeq	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	2	283	-			64					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.191G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678519	0.14841	.	.	ENSG00000125730	ENST00000245907	T	0.79845	-1.31	4.87	-9.75	0.00506	.	2.754490	0.01396	N	0.013408	T	0.60209	0.2251	N	0.22421	0.69	0.09310	N	1	B	0.26318	0.146	B	0.28709	0.093	T	0.51957	-0.8639	10	0.11794	T	0.64	.	3.9794	0.09489	0.0806:0.3674:0.1424:0.4095	.	64	P01024	CO3_HUMAN	D	64	ENSP00000245907:G64D	ENSP00000245907:G64D	G	-	2	0	C3	6670298	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-1.181000	0.03085	-1.444000	0.01950	0.305000	0.20034	GGC		0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	NM_000064		19:6719298
NLRP8	126205	broad.mit.edu	37	19	56490816	56490816	+	Missense_Mutation	SNP	G	G	A	rs571690226	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:56490816G>A	ENST00000291971.3	+	9	3004	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	978					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCATGCTCCGCAAAAACCAA	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		21355	0.002		0.0	False		,,,				2504	0.0					ENST00000291971.3		NA																	0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2932-2934)cGc>cAc		NLR family, pyrin domain containing 8							132.0	125.0	127.0					19																	56490816		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56490816G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2933G>A	19.37:g.56490816G>A	ENSP00000291971:p.Arg978His	False	False		Somatic	0				NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H	p.R978H	NM_176811.2	NP_789781.2	WXS	Illumina HiSeq	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	3004	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	978					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2933G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.607	0.480451	0.12581	.	.	ENSG00000179709	ENST00000291971	T	0.53857	0.6	2.03	-3.75	0.04372	.	.	.	.	.	T	0.48696	0.1514	L	0.58354	1.805	0.09310	N	1	P;P	0.47962	0.903;0.716	P;B	0.48901	0.594;0.39	T	0.42849	-0.9427	9	0.37606	T	0.19	.	5.4095	0.16341	0.0:0.1425:0.5498:0.3077	.	959;978	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	978	ENSP00000291971:R978H	ENSP00000291971:R978H	R	+	2	0	NLRP8	61182628	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.984000	0.03755	-1.097000	0.03042	-0.251000	0.11542	CGC		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	NM_176811		19:56490816
PTPN23	25930	broad.mit.edu	37	3	47452686	47452686	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:47452686C>T	ENST00000265562.4	+	20	3475	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1133					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCACTCAGTCTCCTGGGGGT	0.711																																						ENST00000265562.4		NA																	0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3397-3399)tCt>tTt		protein tyrosine phosphatase, non-receptor type 23							7.0	9.0	8.0					3																	47452686		2134	4220	6354	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452686C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3398C>T	3.37:g.47452686C>T	ENSP00000265562:p.Ser1133Phe	False	False		Somatic	0				PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	p.S1133F	NM_015466.2	NP_056281.1	WXS	Illumina HiSeq	Phase_I	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3475	+			1133					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3398C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109780	0.37242	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	5.3	4.37	0.52481	.	0.135690	0.49916	D	0.000126	T	0.02083	0.0065	N	0.08118	0	0.22701	N	0.998834	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.48736	-0.9009	10	0.33141	T	0.24	-6.0248	14.322	0.66491	0.0:0.8504:0.1496:0.0	.	1007;1133	B4DST5;Q9H3S7	.;PTN23_HUMAN	F	1133	ENSP00000265562:S1133F	ENSP00000265562:S1133F	S	+	2	0	PTPN23	47427690	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.033000	0.41136	2.468000	0.83385	0.563000	0.77884	TCT		0.711	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	NM_015466		3:47452686
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	rs375618954		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					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)					TGAGCCAGCCGCAACTGGATC	0.522																																						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.(5377-5379)Cgg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	TRP/ARG	0,3960		0,0,1980	116.0	123.0	121.0		5377	3.6	1.0	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	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.chr1:158605758G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp	True	False		Somatic	0					p.R1793W	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158605758
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(4)|Deletion - In frame(1)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023895	CDKN2A	M		c.(148-150)Cag>Tag		cyclin-dependent kinase inhibitor 2A							86.0	102.0	96.0					9																	21974679		2203	4300	6503	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974679G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.148C>T	9.37:g.21974679G>A	ENSP00000307101:p.Gln50*	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron	p.Q50*	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	418	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	50		Q -> R (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.148C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216266	0.79352	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	17.3226	0.87240	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000307101:Q50X	Q	-	1	0	CDKN2A	21964679	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	5.147000	0.64851	2.681000	0.91329	0.655000	0.94253	CAG		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974679
DYNC1H1	1778	broad.mit.edu	37	14	102482730	102482730	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGACAGCCGGCTAAAAA	0.418																																						ENST00000360184.4		NA																	0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7516-7518)agC>agT		dynein, cytoplasmic 1, heavy chain 1							67.0	66.0	66.0					14																	102482730		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482730C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7518C>T	14.37:g.102482730C>T		False	False		Somatic	0					p.S2506S	NM_001376.4	NP_001367.2	WXS	Illumina HiSeq	Phase_I	Q14204	DYHC1_HUMAN			37	7682	+			2506					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7518C>T	CCDS9966.1																																																																																				0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	NM_001376		14:102482730
CYP1A2	1544	broad.mit.edu	37	15	75043540	75043540	+	Missense_Mutation	SNP	G	G	A	rs267604321		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:75043540G>A	ENST00000343932.4	+	3	905	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	281			R -> W (in dbSNP:rs45468096). {ECO:0000269|Ref.7}.		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)"""	AACAGTGTCCGGGACATCACG	0.577																																						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.(841-843)cGg>cAg		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)						99.0	82.0	88.0					15																	75043540		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.chr15:75043540G>A	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.842G>A	15.37:g.75043540G>A	ENSP00000342007:p.Arg281Gln	True	False		Somatic	0					p.R281Q	NM_000761.3	NP_000752.2	WXS	Illumina HiSeq	Phase_I	P05177	CP1A2_HUMAN			3	905	+			281		R -> W (in dbSNP:rs45468096).			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.842G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663059	0.29515	.	.	ENSG00000140505	ENST00000343932	T	0.70869	-0.52	4.85	3.72	0.42706	.	0.106321	0.64402	N	0.000004	T	0.57607	0.2065	L	0.45285	1.41	0.34065	D	0.657722	B	0.06786	0.001	B	0.08055	0.003	T	0.59144	-0.7509	10	0.39692	T	0.17	.	5.5956	0.17325	0.7456:0.0:0.2544:0.0	.	281	P05177-2	.	Q	281	ENSP00000342007:R281Q	ENSP00000342007:R281Q	R	+	2	0	CYP1A2	72830593	1.000000	0.71417	0.999000	0.59377	0.410000	0.31052	3.556000	0.53734	0.865000	0.35603	-0.598000	0.04106	CGG		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	0	NM_000761		15:75043540
ENC1	8507	broad.mit.edu	37	5	73931388	73931388	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:73931388T>A	ENST00000302351.4	-	2	2053	c.923A>T	c.(922-924)gAc>gTc	p.D308V	ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	308					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATACAACTTGTCACACATGAA	0.498																																						ENST00000302351.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(922-924)gAc>gTc		ectodermal-neural cortex 1 (with BTB domain)							95.0	99.0	97.0					5																	73931388		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931388T>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.923A>T	5.37:g.73931388T>A	ENSP00000306356:p.Asp308Val	True	False		Somatic	0				ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V	p.D308V	NM_003633.3	NP_003624.1	WXS	Illumina HiSeq	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2053	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	308					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.923A>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863395	0.71949	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66280	-0.2;-0.2;-0.2	6.04	6.04	0.98038	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.55990	1.75	0.80722	D	1	P	0.51351	0.944	P	0.52343	0.696	T	0.66548	-0.5896	10	0.33940	T	0.23	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	308	O14682	ENC1_HUMAN	V	308;235;308	ENSP00000306356:D308V;ENSP00000423804:D235V;ENSP00000446289:D308V	ENSP00000306356:D308V	D	-	2	0	ENC1	73967144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAC		0.498	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	0	NM_003633		5:73931388
DNAH1	25981	broad.mit.edu	37	3	52383089	52383089	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:52383089C>T	ENST00000420323.2	+	13	2553	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	764	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATTGCCTCCTTTCTCAAGT	0.577																																						ENST00000420323.2		NA																	0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2290-2292)tcC>tcT		dynein, axonemal, heavy chain 1							129.0	131.0	130.0					3																	52383089		2193	4279	6472	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383089C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2292C>T	3.37:g.52383089C>T		True	False		Somatic	0					p.S764S	NM_015512.4	NP_056327	WXS	Illumina HiSeq	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2553	+			764			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.2292C>T	CCDS46842.1																																																																																				0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	NM_015512		3:52383089
KIAA0556	23247	broad.mit.edu	37	16	27640032	27640032	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:27640032A>G	ENST00000261588.4	+	4	210	c.191A>G	c.(190-192)cAc>cGc	p.H64R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	64						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGCTGGAGCACTTGGAGCAA	0.488																																						ENST00000261588.4		NA																	0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(190-192)cAc>cGc		KIAA0556							150.0	138.0	142.0					16																	27640032		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27640032A>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.191A>G	16.37:g.27640032A>G	ENSP00000261588:p.His64Arg	False	False		Somatic	0					p.H64R	NM_015202.2	NP_056017.2	WXS	Illumina HiSeq	Phase_I	O60303	K0556_HUMAN			4	210	+			64					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.191A>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000654	0.35320	.	.	ENSG00000047578	ENST00000261588	T	0.39997	1.05	5.21	5.21	0.72293	.	0.237136	0.35349	N	0.003262	T	0.51092	0.1654	L	0.48642	1.525	0.40163	D	0.977085	D	0.61697	0.99	P	0.61592	0.891	T	0.45366	-0.9266	10	0.22109	T	0.4	.	12.6144	0.56567	1.0:0.0:0.0:0.0	.	64	O60303	K0556_HUMAN	R	64	ENSP00000261588:H64R	ENSP00000261588:H64R	H	+	2	0	KIAA0556	27547533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.096000	0.50243	1.973000	0.57446	0.454000	0.30748	CAC		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	NM_015202		16:27640032
ASPRV1	151516	broad.mit.edu	37	2	70187919	70187919	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:70187919C>T	ENST00000320256.4	-	1	1478	c.902G>A	c.(901-903)cGc>cAc	p.R301H	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTGCATGTGCGGTGCTCAAA	0.557																																						ENST00000320256.4		NA																	0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(901-903)cGc>cAc		aspartic peptidase, retroviral-like 1							175.0	162.0	166.0					2																	70187919		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187919C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.902G>A	2.37:g.70187919C>T	ENSP00000315383:p.Arg301His	False	False		Somatic	0					p.R301H	NM_152792.2	NP_690005.2	WXS	Illumina HiSeq	Phase_I	Q53RT3	APRV1_HUMAN			1	1478	-			301						Missense_Mutation	SNP	ENST00000320256.4	37	c.902G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418130	0.83449	.	.	ENSG00000244617	ENST00000320256	T	0.51071	0.72	5.38	5.38	0.77491	.	0.000000	0.43110	D	0.000601	T	0.55130	0.1901	N	0.24115	0.695	0.38945	D	0.958225	D	0.89917	1.0	D	0.83275	0.996	T	0.60500	-0.7251	10	0.59425	D	0.04	-16.4374	14.6246	0.68611	0.0:1.0:0.0:0.0	.	301	Q53RT3	APRV1_HUMAN	H	301	ENSP00000315383:R301H	ENSP00000315383:R301H	R	-	2	0	ASPRV1	70041423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.858000	0.55979	2.530000	0.85305	0.655000	0.94253	CGC		0.557	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	0	NM_152792		2:70187919
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	rs370258691		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177.0	179.0	179.0		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val	False	False		Somatic	0				ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V	p.A445V			WXS	Illumina HiSeq	Phase_I	O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	NM_014861		16:84476138
OR51A7	119687	broad.mit.edu	37	11	4929119	4929119	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:4929119C>T	ENST00000359350.4	+	1	520	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAATCTTCTTTCTCACTC	0.388																																						ENST00000359350.4		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(520-522)Ctt>Ttt		olfactory receptor, family 51, subfamily A, member 7							137.0	124.0	128.0					11																	4929119		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929119C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.520C>T	11.37:g.4929119C>T	ENSP00000352305:p.Leu174Phe	True	False		Somatic	0				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L174F	NM_001004749.1	NP_001004749.1	WXS	Illumina HiSeq	Phase_I	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	520	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	174					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.520C>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234429	0.58886	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.38240	1.15	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000741	T	0.63010	0.2475	M	0.90922	3.16	0.21604	N	0.999623	D	0.89917	1.0	D	0.97110	1.0	T	0.57900	-0.7731	10	0.87932	D	0	.	7.8969	0.29712	0.1585:0.757:0.0:0.0845	.	174	Q8NH64	O51A7_HUMAN	F	174;174;163	ENSP00000352305:L174F	ENSP00000352305:L174F	L	+	1	0	OR51A7	4885695	0.004000	0.15560	0.995000	0.50966	0.955000	0.61496	0.280000	0.18790	2.596000	0.87737	0.655000	0.94253	CTT		0.388	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	0	NM_001004749		11:4929119
PCSK5	5125	broad.mit.edu	37	9	78790148	78790148	+	Intron	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:78790148G>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.G668E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aaatggaatggaatgaaatgg	0.413																																						ENST00000376767.3		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2002-2004)gGa>gAa		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790148G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+103G>A	9.37:g.78790148G>A		True	False		Somatic	0				PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.G668E			WXS	Illumina HiSeq	Phase_I	Q92824	PCSK5_HUMAN			14	2515	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2003G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524580	0.13066	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.78707	-1.2	.	.	.	.	.	.	.	.	T	0.73426	0.3585	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65113	-0.6247	4	0.72032	D	0.01	.	.	.	.	.	668	B1AMG5	.	E	668	ENSP00000365958:G668E	ENSP00000365958:G668E	G	+	2	0	PCSK5	77979968	0.002000	0.14202	0.089000	0.20774	0.091000	0.18340	-0.601000	0.05687	0.000000	0.14550	0.000000	0.15137	GGA		0.413	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:78790148
ACOT7	11332	broad.mit.edu	37	1	6409894	6409894	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:6409894C>T	ENST00000377855.2	-	2	352	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000361521.4_Missense_Mutation_p.G59D	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	69	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GTGGACATTGCCGGCCACGTT	0.592																																					GBM(74;673 1226 4974 11850 13190)	ENST00000361521.4		NA																	0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(175-177)gGc>gAc		acyl-CoA thioesterase 7							63.0	53.0	57.0					1																	6409894		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6409894C>T	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.206G>A	1.37:g.6409894C>T	ENSP00000367086:p.Gly69Asp	False	False		Somatic	0				ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D|ACOT7_ENST00000377855.2_Missense_Mutation_p.G69D|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D	p.G59D	NM_007274.3	NP_009205.3	WXS	Illumina HiSeq	Phase_I	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	2	1167	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	69			Acyl coenzyme A hydrolase 1.		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.176G>A	CCDS65.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993767	0.93167	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	4.48	0.54585	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.75085	2.285	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.991;1.0;0.987	T	0.72327	-0.4327	10	0.72032	D	0.01	.	14.7432	0.69472	0.0:1.0:0.0:0.0	.	59;69;39;18	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	D	69;39;18;59;39	ENSP00000367086:G69D;ENSP00000367076:G39D;ENSP00000367073:G18D;ENSP00000354615:G59D;ENSP00000441872:G39D	ENSP00000354615:G59D	G	-	2	0	ACOT7	6332481	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.065000	0.76727	2.349000	0.79799	0.650000	0.86243	GGC		0.592	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	0	NM_007274		1:6409894
PCDHA8	56140	broad.mit.edu	37	5	140221029	140221029	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140221029C>T	ENST00000531613.1	+	1	123	c.123C>T	c.(121-123)caC>caT	p.H41H	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAAACACGGCACCTTCG	0.672																																						ENST00000531613.1		NA																	0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(121-123)caC>caT									44.0	51.0	48.0					5																	140221029		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140221029C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.123C>T	5.37:g.140221029C>T		False	False		Somatic	0				PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.H41H	NM_018911.2	NP_061734.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	123	+			NA					B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.123C>T	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	0	NM_018911		5:140221029
PGBD4	161779	broad.mit.edu	37	15	34396066	34396066	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:34396066G>A	ENST00000397766.2	+	1	1793	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	445										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CCATCTGAGCGCAAAAGACAC	0.413																																						ENST00000397766.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1333-1335)cGc>cAc		piggyBac transposable element derived 4							77.0	71.0	73.0					15																	34396066		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396066G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1334G>A	15.37:g.34396066G>A	ENSP00000380872:p.Arg445His	False	False		Somatic	0					p.R445H	NM_152595.4	NP_689808.2	WXS	Illumina HiSeq	Phase_I	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1793	+		all_lung(180;1.76e-08)	445					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1334G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	17.93	3.508096	0.64410	.	.	ENSG00000182405	ENST00000397766	T	0.19938	2.11	1.02	-1.24	0.09435	.	3.690650	0.02398	N	0.080343	T	0.34106	0.0886	L	0.55481	1.735	0.09310	N	0.99999	D	0.67145	0.996	D	0.68353	0.957	T	0.23511	-1.0186	10	0.25106	T	0.35	.	1.9806	0.03426	0.4088:0.0:0.3294:0.2618	.	445	Q96DM1	PGBD4_HUMAN	H	445	ENSP00000380872:R445H	ENSP00000380872:R445H	R	+	2	0	PGBD4	32183358	0.487000	0.25988	0.009000	0.14445	0.953000	0.61014	0.430000	0.21428	-0.479000	0.06813	0.306000	0.20318	CGC		0.413	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	0			15:34396066
PSG7	5676	broad.mit.edu	37	19	43433639	43433639	+	RNA	SNP	G	G	T	rs531432163	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:43433639G>T	ENST00000406070.2	-	0	760				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GCACTCACTGGGTTCCGTATT	0.507																																						ENST00000406070.2		NA																	0					NA								pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							235.0	249.0	244.0					19																	43433639		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433639G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433639G>T		True	False		Somatic	0				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina HiSeq	Phase_I	Q13046	PSG7_HUMAN			0	760	-		Prostate(69;0.00682)	NA					Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	NM_001206650		19:43433639
KCNQ1	3784	broad.mit.edu	37	11	2549217	2549217	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:2549217C>T	ENST00000155840.5	+	2	554	c.446C>T	c.(445-447)gCc>gTc	p.A149V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	149					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCAGTATGCCGCCCTGGCC	0.612																																						ENST00000155840.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(445-447)gCc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						226.0	161.0	183.0					11																	2549217		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2549217C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.446C>T	11.37:g.2549217C>T	ENSP00000155840:p.Ala149Val	False	False		Somatic	0				KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	p.A149V	NM_000218.2	NP_000209.2	WXS	Illumina HiSeq	Phase_I	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	2	554	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	149					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.446C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555341	0.45487	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97480	-4.4;-4.4;-4.4	4.46	0.133	0.14766	.	0.507512	0.19967	N	0.102064	D	0.90920	0.7146	N	0.17082	0.46	0.28911	N	0.892704	B;B	0.02656	0.0;0.0	B;B	0.12156	0.001;0.007	D	0.83863	0.0269	10	0.41790	T	0.15	-21.1294	7.0745	0.25197	0.0:0.5348:0.0:0.4652	.	22;149	Q14D14;P51787	.;KCNQ1_HUMAN	V	62;149;22	ENSP00000434560:A62V;ENSP00000155840:A149V;ENSP00000334497:A22V	ENSP00000155840:A149V	A	+	2	0	KCNQ1	2505793	0.258000	0.24033	0.523000	0.27875	0.964000	0.63967	0.646000	0.24797	0.070000	0.16634	0.561000	0.74099	GCC		0.612	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	0	NM_000218		11:2549217
FOXD3	27022	broad.mit.edu	37	1	63789349	63789349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:63789349G>A	ENST00000371116.2	+	1	620	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207				GNPG -> ATRP (in Ref. 3; AAK13574). {ECO:0000305}.	embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCGAGCCGGGCAACCCGGGC	0.637																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2		NA																	0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(619-621)gGc>gAc		forkhead box D3							86.0	100.0	95.0					1																	63789349		2203	4300	6503	SO:0001583	missense	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63789349G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.620G>A	1.37:g.63789349G>A	ENSP00000360157:p.Gly207Asp	True	False		Somatic	0				RP4-792G4.2_ENST00000427268.1_RNA	p.G207D	NM_012183.2	NP_036315.1	WXS	Illumina HiSeq	Phase_I	Q9UJU5	FOXD3_HUMAN			1	620	+			207	GNPG -> ATRP (in Ref. 3; AAK13574).				Q9BYM2|Q9UDD1	Missense_Mutation	SNP	ENST00000371116.2	37	c.620G>A	CCDS624.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603105	0.66445	.	.	ENSG00000187140	ENST00000371116	D	0.95377	-3.69	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92541	0.7631	L	0.33245	0.995	0.80722	D	1	P	0.36616	0.561	P	0.55161	0.77	D	0.89842	0.4003	10	0.11485	T	0.65	.	13.9222	0.63940	0.0:0.0:1.0:0.0	.	207	Q9UJU5	FOXD3_HUMAN	D	207	ENSP00000360157:G207D	ENSP00000360157:G207D	G	+	2	0	FOXD3	63561937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.101000	0.50283	1.759000	0.51996	0.460000	0.39030	GGC		0.637	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	0			1:63789349
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
GNS	2799	broad.mit.edu	37	12	65113959	65113959	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:65113959A>G	ENST00000258145.3	-	13	1593	c.1423T>C	c.(1423-1425)Ttt>Ctt	p.F475L	GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	475					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACTTCTACAAACACCTAGAGG	0.408																																						ENST00000258145.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(1423-1425)Ttt>Ctt		glucosamine (N-acetyl)-6-sulfatase							169.0	173.0	172.0					12																	65113959		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113959A>G		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1423T>C	12.37:g.65113959A>G	ENSP00000258145:p.Phe475Leu	True	False		Somatic	0				GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L	p.F475L	NM_002076.3	NP_002067.1	WXS	Illumina HiSeq	Phase_I	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1593	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		475					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1423T>C	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.208974|5.208974	0.95069|0.95069	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	T;T;T;T|T	0.64991|0.19105	1.84;-0.13;-0.13;-0.13|2.17	5.39|5.39	5.39|5.39	0.77823|0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48059|0.48059	0.1479|0.1479	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.995;1.0;0.974;1.0|.	D;D;D;D|.	0.91635|.	0.969;0.999;0.949;0.998|.	T|T	0.53344|0.53344	-0.8452|-0.8452	9|6	.|.	.|.	.|.	-20.6884|-20.6884	15.7218|15.7218	0.77718|0.77718	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	455;507;475;419|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	L|A	419;475;507;455;392|260	ENSP00000413130:F419L;ENSP00000258145:F475L;ENSP00000438497:F507L;ENSP00000444819:F455L|ENSP00000437782:V260A	.|.	F|V	-|-	1|2	0|0	GNS|GNS	63400226|63400226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	9.204000|9.204000	0.95041|0.95041	2.180000|2.180000	0.69256|0.69256	0.459000|0.459000	0.35465|0.35465	TTT|GTT		0.408	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2	0			12:65113959
PRRG3	79057	broad.mit.edu	37	X	150869406	150869406	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:150869406G>A	ENST00000370353.3	+	4	987	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PRRG3_ENST00000538575.1_Silent_p.A199A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	199						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACTGCGCCCCAAGAGA	0.622																																						ENST00000370353.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(595-597)gcG>gcA		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							74.0	61.0	66.0					X																	150869406		2203	4300	6503	SO:0001819	synonymous_variant	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869406G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.597G>A	X.37:g.150869406G>A		True	False		Somatic	0				PRRG3_ENST00000538575.1_Silent_p.A199A	p.A199A			WXS	Illumina HiSeq	Phase_I	Q9BZD7	TMG3_HUMAN			4	987	+	Acute lymphoblastic leukemia(192;6.56e-05)		199					A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	c.597G>A	CCDS14699.1																																																																																				0.622	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	0	NM_024082		X:150869406
PCDHGA8	9708	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562																																						ENST00000398604.2		NA																	0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1495-1497)gcG>gcA									45.0	52.0	50.0					5																	140773877		2164	4284	6448	SO:0001819	synonymous_variant	0							g.chr5:140773877G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1497G>A	5.37:g.140773877G>A		True	False		Somatic	0				PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A499A	NM_032088.1	NP_114477.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497	+			NA					A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1497G>A	CCDS47291.1																																																																																				0.562	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	0	NM_032088		5:140773877
TRIM67	440730	broad.mit.edu	37	1	231339743	231339743	+	Silent	SNP	C	C	T	rs368294541		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:231339743C>T	ENST00000366653.5	+	6	1665	c.1665C>T	c.(1663-1665)gcC>gcT	p.A555A	TRIM67_ENST00000449018.3_Silent_p.A493A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000444294.3_Silent_p.A553A			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	555	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGACGGTGCCGGGGGACAGT	0.627																																						ENST00000444294.3		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1657-1659)gcC>gcT		tripartite motif containing 67							52.0	67.0	62.0					1																	231339743		2036	4178	6214	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339743C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1665C>T	1.37:g.231339743C>T		True	False		Somatic	0				TRIM67_ENST00000366653.5_Silent_p.A555A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000449018.3_Silent_p.A493A	p.A553A	NM_001004342.3	NP_001004342.3	WXS	Illumina HiSeq	Phase_I	Q6ZTA4	TRI67_HUMAN			6	2517	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	555			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1659C>T	CCDS44333.1																																																																																				0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	0	NM_001004342		1:231339743
ARHGAP9	64333	broad.mit.edu	37	12	57868253	57868253	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:57868253G>A	ENST00000356411.2	-	15	1931	c.1793C>T	c.(1792-1794)gCg>gTg	p.A598V	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.A669V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	598	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGGTGACCGCACGCTCTGC	0.517																																						ENST00000393797.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2005-2007)gCg>gTg		Rho GTPase activating protein 9							87.0	73.0	78.0					12																	57868253		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868253G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1793C>T	12.37:g.57868253G>A	ENSP00000348782:p.Ala598Val	False	False		Somatic	0				ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A598V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V	p.A669V			WXS	Illumina HiSeq	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		18	2198	-			598			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2006C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.873016|3.873016	0.72180|0.72180	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041|ENST00000550399	T;T;T;T;T|.	0.19669|.	2.13;2.13;2.13;2.13;2.13|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.075671|.	0.48286|.	D|.	0.000194|.	T|T	0.61565|0.61565	0.2357|0.2357	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999992|0.999992	P;P;P;P;D|.	0.59767|.	0.934;0.837;0.758;0.934;0.986|.	P;B;B;P;P|.	0.54965|.	0.457;0.272;0.328;0.535;0.765|.	T|T	0.55854|0.55854	-0.8075|-0.8075	10|5	0.59425|.	D|.	0.04|.	.|.	15.8782|15.8782	0.79182|0.79182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	658;598;579;579;395|.	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3|.	.;RHG09_HUMAN;.;.;.|.	V|W	579;598;249;579;669;628;395|49	ENSP00000377380:A579V;ENSP00000348782:A598V;ENSP00000394307:A579V;ENSP00000377386:A669V;ENSP00000397950:A395V|.	ENSP00000344852:A628V|.	A|R	-|-	2|1	0|2	ARHGAP9|ARHGAP9	56154520|56154520	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.245000|0.245000	0.25701|0.25701	5.408000|5.408000	0.66368|0.66368	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_032496		12:57868253
LHX2	9355	broad.mit.edu	37	9	126776246	126776246	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:126776246C>T	ENST00000373615.4	+	2	866	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	RP11-85O21.4_ENST00000421041.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	43					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAGACCATGCCGTCCATCAG	0.701																																						ENST00000373615.4		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(127-129)Ccg>Tcg		LIM homeobox 2							30.0	32.0	31.0					9																	126776246		2201	4298	6499	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126776246C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.127C>T	9.37:g.126776246C>T	ENSP00000362717:p.Pro43Ser	False	False		Somatic	0					p.P43S	NM_004789.3	NP_004780.3	WXS	Illumina HiSeq	Phase_I	P50458	LHX2_HUMAN			2	866	+			43					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.127C>T	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.325460|5.325460	0.95708|0.95708	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000446480|ENST00000373615	.|D	.|0.83914	.|-1.78	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.116041	.|0.64402	.|D	.|0.000015	D|D	0.84160|0.84160	0.5411|0.5411	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B	.|0.24721	.|0.11;0.029	.|B;B	.|0.25884	.|0.064;0.016	T|T	0.80181|0.80181	-0.1489|-0.1489	5|10	.|0.42905	.|T	.|0.14	.|.	18.8766|18.8766	0.92338|0.92338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|43;43	.|B3KNJ5;P50458	.|.;LHX2_HUMAN	V|S	40|43	.|ENSP00000362717:P43S	.|ENSP00000362717:P43S	A|P	+|+	2|1	0|0	LHX2|LHX2	125816067|125816067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.803000|7.803000	0.85983|0.85983	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.701	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2	0			9:126776246
PCDH18	54510	broad.mit.edu	37	4	138449640	138449640	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:138449640A>T	ENST00000344876.4	-	3	3118	c.2732T>A	c.(2731-2733)aTt>aAt	p.I911N	PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	911	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCTGCTGGAATTCTTCCATC	0.403																																						ENST00000344876.4		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2731-2733)aTt>aAt		protocadherin 18							141.0	156.0	151.0					4																	138449640		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449640A>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2732T>A	4.37:g.138449640A>T	ENSP00000355082:p.Ile911Asn	False	False		Somatic	0				PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N	p.I911N	NM_019035.3	NP_061908.1	WXS	Illumina HiSeq	Phase_I	Q9HCL0	PCD18_HUMAN			3	3118	-	all_hematologic(180;0.24)		911			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2732T>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410409	0.42715	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.52754	0.74;0.74;0.65;1.57;1.57	5.56	4.38	0.52667	.	0.000000	0.43747	D	0.000521	T	0.37571	0.1008	L	0.40543	1.245	0.34420	D	0.697313	B;B;B;B	0.10296	0.003;0.0;0.001;0.001	B;B;B;B	0.08055	0.003;0.0;0.001;0.0	T	0.42327	-0.9458	10	0.28530	T	0.3	.	11.4281	0.50022	0.9295:0.0:0.0705:0.0	.	91;690;910;911	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	N	911;910;690;122;91	ENSP00000355082:I911N;ENSP00000390688:I910N;ENSP00000425903:I690N;ENSP00000424269:I122N;ENSP00000425647:I91N	ENSP00000355082:I911N	I	-	2	0	PCDH18	138669090	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.178000	0.71968	0.943000	0.37553	0.533000	0.62120	ATT		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	0	NM_019035		4:138449640
PCDHA7	56141	broad.mit.edu	37	5	140216008	140216008	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140216008G>A	ENST00000525929.1	+	1	2040	c.2040G>A	c.(2038-2040)tcG>tcA	p.S680S	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	680					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGTCGTCGCGGGCATCGT	0.622																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2038-2040)tcG>tcA									89.0	82.0	84.0					5																	140216008		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140216008G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2040G>A	5.37:g.140216008G>A		False	False		Somatic	0				PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S680S	NM_018910.2	NP_061733.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2040	+			NA					O75282	Silent	SNP	ENST00000525929.1	37	c.2040G>A	CCDS54918.1																																																																																				0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	0	NM_018910		5:140216008
TRPC6	7225	broad.mit.edu	37	11	101375398	101375398	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:101375398C>T	ENST00000344327.3	-	2	726	c.302G>A	c.(301-303)cGc>cAc	p.R101H	TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	101					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATCCAAAAAGCGTTCCTCCTC	0.483																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(301-303)cGc>cAc		transient receptor potential cation channel, subfamily C, member 6							152.0	148.0	149.0					11																	101375398		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375398C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.302G>A	11.37:g.101375398C>T	ENSP00000340913:p.Arg101His	False	False		Somatic	0				TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H	p.R101H	NM_004621.5	NP_004612.2	WXS	Illumina HiSeq	Phase_I	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	726	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	101					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.302G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839593	0.51057	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.80393	-1.17;-1.26;-1.09;-1.37	5.87	5.87	0.94306	.	0.096864	0.64402	D	0.000001	D	0.87577	0.6212	L	0.47190	1.495	0.54753	D	0.999989	B;D;B	0.89917	0.37;1.0;0.128	B;D;B	0.91635	0.087;0.999;0.018	D	0.86300	0.1679	10	0.48119	T	0.1	-6.1692	20.206	0.98277	0.0:1.0:0.0:0.0	.	101;101;101	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	H	101	ENSP00000340913:R101H;ENSP00000435574:R101H;ENSP00000343672:R101H;ENSP00000353687:R101H	ENSP00000340913:R101H	R	-	2	0	TRPC6	100880608	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.915000	0.56409	2.785000	0.95823	0.655000	0.94253	CGC		0.483	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	0	NM_004621		11:101375398
DIAPH3	81624	broad.mit.edu	37	13	60557994	60557994	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:60557994C>T	ENST00000400324.4	-	13	1609	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000400330.1_Silent_p.E463E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	463	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGGATACACACTCATCAATTA	0.313																																						ENST00000400324.4		NA																	0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1387-1389)gaG>gaA		diaphanous-related formin 3							107.0	104.0	105.0					13																	60557994		1842	4087	5929	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60557994C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1389G>A	13.37:g.60557994C>T		True	False		Somatic	0				DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000400319.1_Silent_p.E393E	p.E463E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	WXS	Illumina HiSeq	Phase_I	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	13	1609	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	463			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.1389G>A	CCDS41898.1																																																																																				0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	0	NM_001042517		13:60557994
ASTN2	23245	broad.mit.edu	37	9	119568096	119568096	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:119568096G>A	ENST00000313400.4	-	13	2311	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.C733C			O75129	ASTN2_HUMAN	astrotactin 2	737	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTCCTCCACGCAACTGTATG	0.488																																						ENST00000313400.4		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(2209-2211)tgC>tgT		astrotactin 2							110.0	107.0	108.0					9																	119568096		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119568096G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2211C>T	9.37:g.119568096G>A		False	False		Somatic	0				ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.C733C	p.C737C			WXS	Illumina HiSeq	Phase_I	O75129	ASTN2_HUMAN			13	2311	-			737			EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2211C>T																																																																																					0.488	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_014010		9:119568096
MAGEC3	139081	broad.mit.edu	37	X	140985098	140985098	+	Silent	SNP	C	C	T	rs371218735		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140985098C>T	ENST00000298296.1	+	7	1554	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000536088.1_Silent_p.P220P	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATATGGACCCCGACAACCACT	0.448													C|||	4	0.0010596	0.0	0.0	3775	,	,		13728	0.004		0.0	False		,,,				2504	0.0					ENST00000298296.1		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1552-1554)ccC>ccT		melanoma antigen family C, 3							156.0	151.0	153.0					X																	140985098		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985098C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1554C>T	X.37:g.140985098C>T		True	False		Somatic	0				MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000536088.1_Silent_p.P220P	p.P518P	NM_138702.1	NP_619647.1	WXS	Illumina HiSeq	Phase_I	Q8TD91	MAGC3_HUMAN			7	1554	+	Acute lymphoblastic leukemia(192;6.56e-05)		518			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1554C>T	CCDS14676.1																																																																																				0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	0	NM_138702		X:140985098
NOS1	4842	broad.mit.edu	37	12	117658040	117658040	+	Missense_Mutation	SNP	G	G	A	rs561122952		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:117658040G>A	ENST00000338101.4	-	27	4116	c.4112C>T	c.(4111-4113)gCg>gTg	p.A1371V	NOS1_ENST00000317775.6_Missense_Mutation_p.A1337V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACAGACTCCGCCAGCTGCTC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19872	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4009-4011)gCg>gTg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						107.0	115.0	112.0					12																	117658040		2201	4300	6501	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117658040G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4112C>T	12.37:g.117658040G>A	ENSP00000337459:p.Ala1371Val	False	False		Somatic	0				NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1371V	p.A1337V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina HiSeq	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4695	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1337						Missense_Mutation	SNP	ENST00000338101.4	37	c.4010C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361076	0.82353	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.79554	-1.28;-1.28	4.44	4.44	0.53790	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.061459	0.64402	D	0.000004	D	0.89539	0.6744	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	D	0.91880	0.5515	10	0.59425	D	0.04	-23.5503	17.268	0.87093	0.0:0.0:1.0:0.0	.	1337	P29475	NOS1_HUMAN	V	1232;1337;1371	ENSP00000320758:A1337V;ENSP00000337459:A1371V	ENSP00000320758:A1337V	A	-	2	0	NOS1	116142423	1.000000	0.71417	0.933000	0.37362	0.958000	0.62258	7.674000	0.83992	2.310000	0.77875	0.561000	0.74099	GCG		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	0			12:117658040
LAMB2	3913	broad.mit.edu	37	3	49162783	49162783	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49162783G>A	ENST00000418109.1	-	20	2787	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	875	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACATGGCCGGCAGCTAGGG	0.597																																						ENST00000418109.1		NA																	0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2623-2625)Cgg>Tgg		laminin, beta 2 (laminin S)							90.0	88.0	89.0					3																	49162783		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162783G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2623C>T	3.37:g.49162783G>A	ENSP00000388325:p.Arg875Trp	False	False		Somatic	0				LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W|LAMB2_ENST00000464891.1_5'UTR	p.R875W	NM_002292.3	NP_002283.3	WXS	Illumina HiSeq	Phase_I	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	2787	-			875			Laminin EGF-like 7.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2623C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560125	0.65538	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.55588	0.51;0.51	6.08	6.08	0.98989	EGF-like, laminin (2);	0.121540	0.56097	D	0.000036	T	0.66446	0.2790	M	0.91140	3.18	0.80722	D	1	B	0.22146	0.065	B	0.19148	0.024	T	0.67280	-0.5710	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	875	P55268	LAMB2_HUMAN	W	875	ENSP00000388325:R875W;ENSP00000307156:R875W	ENSP00000307156:R875W	R	-	1	2	LAMB2	49137787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.377000	0.59562	2.894000	0.99253	0.655000	0.94253	CGG		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	NM_002292		3:49162783
CHST1	8534	broad.mit.edu	37	11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617																																						ENST00000308064.2		NA																	0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(865-867)Cgg>Tgg		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							87.0	77.0	80.0					11																	45671609		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671609G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.865C>T	11.37:g.45671609G>A	ENSP00000309270:p.Arg289Trp	False	False		Somatic	0					p.R289W	NM_003654.5	NP_003645.1	WXS	Illumina HiSeq	Phase_I	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1535	-			289					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.865C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821565	0.71028	.	.	ENSG00000175264	ENST00000308064	T	0.76316	-1.01	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.062547	0.64402	D	0.000005	D	0.86422	0.5929	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	D	0.85721	0.1325	10	0.37606	T	0.19	-19.3412	18.0436	0.89326	0.0:0.0:1.0:0.0	.	289	O43916	CHST1_HUMAN	W	289	ENSP00000309270:R289W	ENSP00000309270:R289W	R	-	1	2	CHST1	45628185	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	5.503000	0.66962	2.252000	0.74401	0.462000	0.41574	CGG		0.617	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	0	NM_003654		11:45671609
ATP2B2	491	broad.mit.edu	37	3	10417285	10417285	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:10417285G>A	ENST00000352432.4	-	10	1314	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	ATP2B2_ENST00000397077.1_Silent_p.Y370Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	415					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCACAGTGAAGTAGAGCACCA	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1108-1110)taC>taT		ATPase, Ca++ transporting, plasma membrane 2							76.0	63.0	67.0					3																	10417285		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417285G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1245C>T	3.37:g.10417285G>A		False	False		Somatic	0				ATP2B2_ENST00000343816.4_Silent_p.Y401Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y	p.Y370Y			WXS	Illumina HiSeq	Phase_I	Q01814	AT2B2_HUMAN			10	1685	-			415					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1110C>T	CCDS33701.1																																																																																				0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	0	NM_001683		3:10417285
TMPRSS11E	28983	broad.mit.edu	37	4	69337338	69337338	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:69337338A>G	ENST00000305363.4	+	5	551	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	163	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTAAAATTAAAAGTAAGTT	0.308																																						ENST00000305363.4		NA																	0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(487-489)Aaa>Gaa		transmembrane protease, serine 11E							76.0	81.0	79.0					4																	69337338		2203	4298	6501	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69337338A>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.487A>G	4.37:g.69337338A>G	ENSP00000307519:p.Lys163Glu	True	False		Somatic	0					p.K163E	NM_014058.3	NP_054777.2	WXS	Illumina HiSeq	Phase_I	Q9UL52	TM11E_HUMAN			5	551	+			163			SEA.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.487A>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	8.476	0.858592	0.17178	.	.	ENSG00000087128	ENST00000305363	T	0.31769	1.48	5.83	5.83	0.93111	.	0.391906	0.21879	N	0.067776	T	0.19765	0.0475	L	0.27053	0.805	0.31370	N	0.680243	P	0.37781	0.608	B	0.35413	0.202	T	0.09662	-1.0664	10	0.10111	T	0.7	.	12.5838	0.56406	1.0:0.0:0.0:0.0	.	163	Q9UL52	TM11E_HUMAN	E	163	ENSP00000307519:K163E	ENSP00000307519:K163E	K	+	1	0	TMPRSS11E	69019933	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	3.137000	0.50562	2.229000	0.72834	0.482000	0.46254	AAA		0.308	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	0	NM_014058		4:69337338
TLN2	83660	broad.mit.edu	37	15	63088384	63088384	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:63088384C>A	ENST00000561311.1	+	46	6172	c.5942C>A	c.(5941-5943)aCa>aAa	p.T1981K	TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K			Q9Y4G6	TLN2_HUMAN	talin 2	1981					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCATGCATTACAGCCGCCACC	0.562																																						ENST00000561311.1		NA																	0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5941-5943)aCa>aAa		talin 2							70.0	67.0	68.0					15																	63088384		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63088384C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5942C>A	15.37:g.63088384C>A	ENSP00000453508:p.Thr1981Lys	False	False		Somatic	0				TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K	p.T1981K			WXS	Illumina HiSeq	Phase_I	Q9Y4G6	TLN2_HUMAN			46	6172	+			1981					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5942C>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317805	0.81469	.	.	ENSG00000171914	ENST00000306829	T	0.69040	-0.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	T	0.70941	-0.4735	10	0.23302	T	0.38	-17.5484	19.3855	0.94554	0.0:1.0:0.0:0.0	.	1981	Q9Y4G6	TLN2_HUMAN	K	1981	ENSP00000303476:T1981K	ENSP00000303476:T1981K	T	+	2	0	TLN2	60875437	1.000000	0.71417	0.964000	0.40570	0.521000	0.34408	7.776000	0.85560	2.569000	0.86673	0.655000	0.94253	ACA		0.562	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0			15:63088384
GOLIM4	27333	broad.mit.edu	37	3	167728536	167728536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:167728536C>A	ENST00000470487.1	-	15	2625	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	646	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATACATTTTCATCATTTTCA	0.378																																						ENST00000470487.1		NA																	0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1936-1938)Gaa>Taa		golgi integral membrane protein 4							187.0	179.0	182.0					3																	167728536		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728536C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1936G>T	3.37:g.167728536C>A	ENSP00000417354:p.Glu646*	True	False		Somatic	0				GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618*	p.E646*	NM_014498.3	NP_055313.1	WXS	Illumina HiSeq	Phase_I	O00461	GOLI4_HUMAN			15	2625	-			646			Glu-rich.			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1936G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	44	10.733399	0.99458	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.93	4.93	0.64822	.	0.307810	0.35262	N	0.003340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.825	16.3722	0.83368	0.0:1.0:0.0:0.0	.	.	.	.	X	646;618	.	ENSP00000309893:E618X	E	-	1	0	GOLIM4	169211230	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.079000	0.50104	2.299000	0.77371	0.555000	0.69702	GAA		0.378	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2	0			3:167728536
MON2	23041	broad.mit.edu	37	12	62936898	62936898	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:62936898G>T	ENST00000393632.2	+	20	2777	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	MON2_ENST00000552738.1_Missense_Mutation_p.A773S|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|MON2_ENST00000393630.3_Missense_Mutation_p.A796S|MON2_ENST00000546600.1_Missense_Mutation_p.A796S|MON2_ENST00000393629.2_Missense_Mutation_p.A796S|MON2_ENST00000280379.6_Missense_Mutation_p.A796S	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	796					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTGCTGTTGCCAAATTGTT	0.333																																						ENST00000393630.3		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(2386-2388)Gcc>Tcc		MON2 homolog (S. cerevisiae)							97.0	99.0	98.0					12																	62936898		2203	4299	6502	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62936898G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2386G>T	12.37:g.62936898G>T	ENSP00000377252:p.Ala796Ser	False	False		Somatic	0				MON2_ENST00000546600.1_Missense_Mutation_p.A796S|MON2_ENST00000393629.2_Missense_Mutation_p.A796S|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|MON2_ENST00000280379.6_Missense_Mutation_p.A796S|MON2_ENST00000393632.2_Missense_Mutation_p.A796S|MON2_ENST00000552738.1_Missense_Mutation_p.A773S	p.A796S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina HiSeq	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	20	2777	+			796					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2386G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504466	0.96371	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;1.56	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.41236	1.265	0.80722	D	1	D;D;P;D	0.71674	0.987;0.986;0.845;0.998	P;P;P;D	0.68039	0.8;0.902;0.755;0.955	T	0.68659	-0.5350	9	.	.	.	-8.9396	19.7314	0.96182	0.0:0.0:1.0:0.0	.	796;773;796;796	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	S	796;796;796;796;773;796;796	ENSP00000377252:A796S;ENSP00000377250:A796S;ENSP00000280379:A796S;ENSP00000447407:A796S;ENSP00000449215:A773S;ENSP00000377249:A796S;ENSP00000446635:A796S	.	A	+	1	0	MON2	61223165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.727000	0.93392	0.655000	0.94253	GCC		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	0	NM_015026		12:62936898
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478																																						ENST00000305031.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1234-1236)cGc>cAc		chondroitin sulfate synthase 3		G	HIS/ARG	0,4406		0,0,2203	98.0	89.0	92.0		1235	4.5	1.0	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520070G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His	False	False		Somatic	0				CHSY3_ENST00000507545.1_3'UTR	p.R412H	NM_175856.4	NP_787052.3	WXS	Illumina HiSeq	Phase_I	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1593	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	412					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1235G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		0.478	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	0	NM_175856		5:129520070
DHX8	1659	broad.mit.edu	37	17	41601211	41601211	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:41601211G>A	ENST00000262415.3	+	23	3731	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1220					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTCCGACGGCGCTGAAAGGCA	0.517																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3658-3660)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							76.0	66.0	70.0					17																	41601211		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601211G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3659G>A	17.37:g.41601211G>A	ENSP00000262415:p.Arg1220His	False	False		Somatic	0				DHX8_ENST00000540306.1_Intron	p.R1220H	NM_004941.1	NP_004932.1	WXS	Illumina HiSeq	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3731	+		Breast(137;0.00908)	1220						Missense_Mutation	SNP	ENST00000262415.3	37	c.3659G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780753	0.70222	.	.	ENSG00000067596	ENST00000262415	T	0.03801	3.8	6.16	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.36672	1.1	0.58432	D	0.999999	D	0.71674	0.998	P	0.52481	0.7	T	0.03423	-1.1038	10	0.87932	D	0	.	14.6997	0.69147	0.0688:0.0:0.9312:0.0	.	1220	Q14562	DHX8_HUMAN	H	1220	ENSP00000262415:R1220H	ENSP00000262415:R1220H	R	+	2	0	DHX8	38956737	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	9.841000	0.99482	1.628000	0.50416	-0.145000	0.13849	CGC		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	0			17:41601211
DSCAML1	57453	broad.mit.edu	37	11	117651507	117651507	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:117651507C>T	ENST00000321322.6	-	2	246	c.245G>A	c.(244-246)gGc>gAc	p.G82D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	22	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGGCTGGTGCCAACATCTTC	0.612																																						ENST00000321322.6		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(244-246)gGc>gAc		Down syndrome cell adhesion molecule like 1							10.0	9.0	10.0					11																	117651507		2161	4209	6370	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651507C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.245G>A	11.37:g.117651507C>T	ENSP00000315465:p.Gly82Asp	False	False		Somatic	0				DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D	p.G82D	NM_020693.2	NP_065744.2	WXS	Illumina HiSeq	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	246	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	22			Ig-like C2-type 1.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.245G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374942	0.42105	.	.	ENSG00000177103	ENST00000527706;ENST00000321322	T;T	0.61158	0.13;0.24	5.1	5.1	0.69264	Immunoglobulin-like (1);	.	.	.	.	T	0.38241	0.1033	N	0.08118	0	0.51482	D	0.99992	B	0.26002	0.139	B	0.24701	0.055	T	0.26849	-1.0091	9	0.11182	T	0.66	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	22	Q8TD84	DSCL1_HUMAN	D	22;82	ENSP00000434335:G22D;ENSP00000315465:G82D	ENSP00000315465:G82D	G	-	2	0	DSCAML1	117156717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.439000	0.44846	2.536000	0.85505	0.563000	0.77884	GGC		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	NM_020693		11:117651507
CFAP61	26074	broad.mit.edu	37	20	20071525	20071525	+	Missense_Mutation	SNP	C	C	T	rs573435093		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:20071525C>T	ENST00000245957.5	+	7	680	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		202										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATATTTATGCGCTATGACAC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20456	0.0		0.0	False		,,,				2504	0.001					ENST00000245957.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(604-606)Cgc>Tgc		chromosome 20 open reading frame 26							212.0	195.0	200.0					20																	20071525		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20071525C>T																												ENST00000245957.5:c.604C>T	20.37:g.20071525C>T	ENSP00000245957:p.Arg202Cys	False	False		Somatic	0				C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C	p.R202C	NM_015585.3	NP_056400.3	WXS	Illumina HiSeq	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	680	+			202					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.604C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292464	0.40594	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.62	4.68	0.58851	Acyl-CoA N-acyltransferase (2);	0.294938	0.35013	N	0.003506	T	0.53610	0.1807	M	0.61703	1.905	0.35895	D	0.829995	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	P;D;P;P	0.64595	0.804;0.927;0.905;0.629	T	0.65776	-0.6086	10	0.62326	D	0.03	.	12.4192	0.55510	0.0:0.8606:0.0:0.1394	.	202;202;156;202	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	C	156;202;202;202;202;202;98	ENSP00000345553:R156C;ENSP00000245957:R202C;ENSP00000366521:R202C;ENSP00000414537:R202C;ENSP00000420498:R98C	ENSP00000245957:R202C	R	+	1	0	C20orf26	20019525	0.585000	0.26774	0.174000	0.22961	0.238000	0.25445	2.466000	0.45084	1.377000	0.46286	0.655000	0.94253	CGC		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	0			20:20071525
