#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
MROH1	727957	broad.mit.edu	37	8	145235339	145235339	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:145235339G>A	ENST00000528919.1	+	6	596	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I|MROH1_ENST00000398656.4_Missense_Mutation_p.V159I	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	159																	GTTCGGCGTAGTCCCCTTCCT	0.692																																						ENST00000528919.1											0										c.(475-477)Gtc>Atc	maestro heat-like repeat family member 1						97.0	101.0	100.0					8																	145235339		2177	4250	6427	SO:0001583	missense	727957						g.chr8:145235339G>A			CCDS47938.1, CCDS47939.1, CCDS75803.1	CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	"""maestro heat-like repeat containing"""	26958	26958	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""HEAT repeat containing 7A"""	HEATR7A	"""HEAT repeat containing 7A"""	HEATR7A		11347906	11347906	Standard	Standard	NM_032450	NM_032450		Approved	KIAA1833	uc003zbk.4	uc003zbk.4	Q8NDA8	Q8NDA8	OTTHUMG00000165781	OTTHUMG00000165781	ENST00000528919.1:c.475G>A	8.37:g.145235339G>A	ENSP00000435565:p.Val159Ile		MROH1_ENST00000398656.4_Missense_Mutation_p.V159I|MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I	p.V159I	NM_032450.2	NP_115826					6	596	+					C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.475G>A	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239463	0.58995	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.42	3.62	0.41486	5.42	3.62	0.41486	Armadillo-type fold (1);	0.000000	0.64402	U	0.000020	T	0.20007	0.0481	M	0.75447	2.3	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.911;0.911;0.972;0.965	D;B;B;D;P	0.74348	0.983;0.232;0.232;0.918;0.856	T	0.01566	-1.1323	10	0.26408	T	0.33	.	10.1834	0.42982	0.1652:0.0:0.8348:0.0	.	159;159;159;159;159	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	159;159;159;159;159;91	ENSP00000388174:V159I;ENSP00000381649:V159I;ENSP00000436636:V159I;ENSP00000435565:V159I;ENSP00000321737:V159I	ENSP00000321737:V159I	V	+	1	0	0	HEATR7A	145307327	145307327	1.000000	0.71417	0.990000	0.47175	0.017000	0.09413	7.060000	0.76692	0.769000	0.33313	-0.258000	0.10820	GTC		0.692	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1		183.866039	-16	-16	72	72	NM_032450		61	183.87324	183.873240	59	0.508333	0	0	0	1	0	61	59	0.508333
SLC30A1	7779	broad.mit.edu	37	1	211749275	211749275	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr1:211749275T>C	ENST00000367001.4	-	2	1108	c.979A>G	c.(979-981)Ata>Gta	p.I327V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	327					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TAAAGAAGTATACAAACCATT	0.318																																						ENST00000367001.4											0			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(979-981)Ata>Gta	solute carrier family 30 (zinc transporter), member 1						105.0	111.0	109.0					1																	211749275		2203	4300	6503	SO:0001583	missense	7779			cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749275T>C	AF323590	AF323590	CCDS1499.1	CCDS1499.1	1q32.3	2013-05-22			2013-05-22			ENSG00000170385	ENSG00000170385	ENSG00000170385	ENSG00000170385		"""Solute carriers"""	"""Solute carriers"""	11012	11012	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609521	609521		ZNT1		ZNT1				Standard	Standard	NM_021194	NM_021194		Approved	ZRC1	uc001hio.1	uc001hio.1	Q9Y6M5	Q9Y6M5	OTTHUMG00000036995	OTTHUMG00000036995	ENST00000367001.4:c.979A>G	1.37:g.211749275T>C	ENSP00000355968:p.Ile327Val			p.I327V	NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	1108	-			327		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.979A>G	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878797	0.72294	.	.	ENSG00000170385	ENST00000367001	T	0.66995	-0.24	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.047895	0.85682	D	0.000000	T	0.75824	0.3902	L	0.45352	1.415	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.75872	-0.3164	10	0.44086	T	0.13	-10.9073	15.4963	0.75653	0.0:0.0:0.0:1.0	.	327	Q9Y6M5	ZNT1_HUMAN	V	327	ENSP00000355968:I327V	ENSP00000355968:I327V	I	-	1	0	0	SLC30A1	209815898	209815898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.748000	0.85085	2.061000	0.61500	0.460000	0.39030	ATA		0.318	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		123.504658	1	1	110	110			40	123.805805	123.805805	51	0.439560	0	0	0	1	0	40	51	0.43956
NDUFAF6	137682	broad.mit.edu	37	8	96064453	96064453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:96064453C>T	ENST00000396124.4	+	8	891	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*|NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.Q198*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	290					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGCTTTTCTTCAGACGGTAAG	0.348																																						ENST00000396113.1											0										c.(592-594)Cag>Tag	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6						124.0	111.0	115.0					8																	96064453		1835	4085	5920	SO:0001587	stop_gained	137682			biosynthetic process	mitochondrion	transferase activity	g.chr8:96064453C>T	BC028166	BC028166	CCDS6266.2	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	"""Mitochondrial respiratory chain complex assembly factors"""	28625	28625	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612392	612392	"""chromosome 8 open reading frame 38"""	C8orf38	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	22019594, 23509070	Standard	Standard	NM_152416	NM_152416		Approved	MGC40214	uc003yhj.3	uc003yhj.3	Q330K2	Q330K2	OTTHUMG00000150173	OTTHUMG00000150173	ENST00000396124.4:c.868C>T	8.37:g.96064453C>T	ENSP00000379430:p.Gln290*		NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|NDUFAF6_ENST00000396124.4_Nonsense_Mutation_p.Q290*|NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*	p.Q198*			Q330K2	CH038_HUMAN			14	1642	+			290		A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.592C>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	32	5.193284	0.94960	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124;ENST00000286687	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	20.480600	0.00166	N	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.8906	7.5839	0.27980	0.1658:0.752:0.0:0.0822	.	.	.	.	X	198;198;238;290;138	.	ENSP00000286687:Q138X	Q	+	1	0	0	C8orf38	96133629	96133629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.430000	0.44766	2.657000	0.90304	0.655000	0.94253	CAG		0.348	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2		141.578748	29	29	123	123	NM_152416		48	142.077809	142.077809	64	0.428571	0	0	0	1	0	48	64	0.428571
C16orf62	57020	broad.mit.edu	37	16	19621674	19621674	+	Silent	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr16:19621674A>C	ENST00000251143.5	+	12	972	c.960A>C	c.(958-960)acA>acC	p.T320T	C16orf62_ENST00000542263.1_Silent_p.T409T|C16orf62_ENST00000438132.3_Silent_p.T409T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	320						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCCGGTTGACATGCATGATCA	0.522																																						ENST00000438132.3											0			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1225-1227)acA>acC	chromosome 16 open reading frame 62						106.0	81.0	90.0					16																	19621674		2197	4300	6497	SO:0001819	synonymous_variant	57020				integral to membrane		g.chr16:19621674A>C			CCDS32397.1, CCDS32397.2, CCDS73840.1	CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			2012-05-30			ENSG00000103544	ENSG00000103544	ENSG00000103544	ENSG00000103544				24641	24641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10493829	10493829	Standard	Standard	NM_020314	NM_020314		Approved	MGC16824	uc002dgn.3	uc002dgn.3	Q7Z3J2	Q7Z3J2	OTTHUMG00000167925	OTTHUMG00000167925	ENST00000251143.5:c.960A>C	16.37:g.19621674A>C			C16orf62_ENST00000251143.5_Silent_p.T320T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T|C16orf62_ENST00000542263.1_Silent_p.T409T	p.T409T	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			12	1275	+			320		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.1227A>C																																																																																										0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			41.175076	2	2	28	28	NM_020314		13	41.211169	41.211169	11	0.541667	0	0	0	1	0	13	11	0.541667
XKR4	114786	broad.mit.edu	37	8	56015469	56015469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:56015469C>T	ENST00000327381.6	+	1	521	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	141						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTGCGCGGCCAGCGCTGGTG	0.637																																						ENST00000327381.6											0			NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(421-423)Cag>Tag	XK, Kell blood group complex subunit-related family, member 4						59.0	46.0	50.0					8																	56015469		2203	4299	6502	SO:0001587	stop_gained	114786				integral to membrane		g.chr8:56015469C>T	AY534241	AY534241	CCDS34893.1	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579	ENSG00000206579	ENSG00000206579				29394	29394	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""X Kell blood group precursor-related family, member 4"""		"""X Kell blood group precursor-related family, member 4"""					Standard	Standard	NM_052898	NM_052898		Approved	KIAA1889	uc003xsf.3	uc003xsf.3	Q5GH76	Q5GH76	OTTHUMG00000164288	OTTHUMG00000164288	ENST00000327381.6:c.421C>T	8.37:g.56015469C>T	ENSP00000328326:p.Gln141*			p.Q141*	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	521	+					Q96PZ8	Nonsense_Mutation	SNP	ENST00000327381.6	37	c.421C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.798905	0.98495	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	1.250970	0.05505	N	0.559163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.3005	18.6859	0.91563	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000328326:Q141X	Q	+	1	0	0	XKR4	56178023	56178023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.879000	0.69690	2.406000	0.81754	0.650000	0.86243	CAG		0.637	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		10.828176	-27	-27	61	61	NM_052898		12	25.742621	25.742621	91	0.116505	0	0	0	1	0	12	91	0.116505
RYR1	6261	broad.mit.edu	37	19	38951204	38951204	+	Silent	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr19:38951204C>T	ENST00000359596.3	+	20	2550	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000355481.4_Silent_p.F850F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	850	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACACCGACTTCGTGCCCTGCC	0.637																																						ENST00000355481.4											0			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2548-2550)ttC>ttT	ryanodine receptor 1 (skeletal)						41.0	44.0	43.0					19																	38951204		2203	4300	6503	SO:0001819	synonymous_variant	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38951204C>T	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"""Ion channels / Ryanodine receptors"""	"""Ion channels / Ryanodine receptors"""	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	"""protein phosphatase 1, regulatory subunit 137"""	180901	180901	"""central core disease of muscle"""	MHS, MHS1, CCO	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.2550C>T	19.37:g.38951204C>T			RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000359596.3_Silent_p.F850F	p.F850F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2681	+	all_cancers(60;7.91e-06)		850	6 X approximate repeats.	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2550C>T	CCDS33011.1																																																																																									0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		59.456684	-7	-7	64	64			21	61.528975	61.528975	46	0.313433	0	0	0	1	0	21	46	0.313433
TRPV2	51393	broad.mit.edu	37	17	16320989	16320989	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:16320989T>G	ENST00000338560.7	+	2	406	c.7T>G	c.(7-9)Tca>Gca	p.S3A	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	3	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGATGACCTCACCCTCCAG	0.582																																						ENST00000338560.7											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(7-9)Tca>Gca	transient receptor potential cation channel, subfamily V, member 2						72.0	61.0	65.0					17																	16320989		2203	4300	6503	SO:0001583	missense	51393			sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16320989T>G	AF129112	AF129112	CCDS32576.1	CCDS32576.1	17p11.2	2013-01-10			2013-01-10			ENSG00000187688	ENSG00000187688	ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	18082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606676	606676						10201375, 16382100	10201375, 16382100	Standard	Standard	NM_016113	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	uc002gpy.3	Q9Y5S1	Q9Y5S1	OTTHUMG00000058989	OTTHUMG00000058989	ENST00000338560.7:c.7T>G	17.37:g.16320989T>G	ENSP00000342222:p.Ser3Ala		TRPV2_ENST00000577397.1_5'UTR	p.S3A	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	406	+			3	Required for interaction with SLC50A1 (By similarity).	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.7T>G	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	T	4.878	0.163160	0.09287	.	.	ENSG00000187688	ENST00000338560	D	0.88046	-2.33	5.29	-2.48	0.06423	5.29	-2.48	0.06423	.	1.305430	0.05349	N	0.531535	T	0.82033	0.4949	L	0.44542	1.39	0.09310	N	0.999996	B	0.27229	0.172	B	0.25140	0.058	T	0.69045	-0.5249	10	0.62326	D	0.03	-0.1787	9.8456	0.41026	0.1069:0.0:0.5186:0.3745	.	3	Q9Y5S1	TRPV2_HUMAN	A	3	ENSP00000342222:S3A	ENSP00000342222:S3A	S	+	1	0	0	TRPV2	16261714	16261714	0.001000	0.12720	0.030000	0.17652	0.013000	0.08279	0.147000	0.16202	-0.513000	0.06496	-1.871000	0.00553	TCA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2		4.236573	-6	-6	78	78	NM_016113		8	18.050588	18.050588	76	0.095238	0	0	0	1	0	8	76	0.095238
PHF7	51533	broad.mit.edu	37	3	52442542	52442542	+	5'Flank	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:52442542T>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.D68G|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.D68G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CACGGACGTATCATCCACCAA	0.502																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(202-204)gAt>gGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						66.0	55.0	59.0					3																	52442542		2202	4300	6502	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442542T>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52442542T>C	Exception_encountered		BAP1_ENST00000296288.5_Missense_Mutation_p.D68G	p.D68G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	674	-			68		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.203A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852084	0.71719	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53857	0.6;0.6	5.43	5.43	0.79202	5.43	5.43	0.79202	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.332135	0.36066	N	0.002808	T	0.30039	0.0752	N	0.02142	-0.665	0.58432	D	0.999999	B	0.18461	0.028	B	0.20384	0.029	T	0.18366	-1.0339	10	0.54805	T	0.06	-4.0493	15.4677	0.75416	0.0:0.0:0.0:1.0	.	68	Q92560	BAP1_HUMAN	G	68	ENSP00000417132:D68G;ENSP00000296288:D68G	ENSP00000296288:D68G	D	-	2	0	0	BAP1	52417582	52417582	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.005000	0.88553	2.061000	0.61500	0.533000	0.62120	GAT		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		35.816669	5	5	17	17	NM_016483		10	37.315062	37.315062	1	0.909091	0	0	0	1	0	10	1	0.909091
ARHGEF40	55701	broad.mit.edu	37	14	21548919	21548919	+	Missense_Mutation	SNP	G	G	T	rs527744379		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr14:21548919G>T	ENST00000298694.4	+	12	2601	c.2474G>T	c.(2473-2475)cGt>cTt	p.R825L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	825						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCGATTCCGTGCTTTCAGC	0.637																																						ENST00000298694.4											0			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2473-2475)cGt>cTt	Rho guanine nucleotide exchange factor (GEF) 40						56.0	51.0	53.0					14																	21548919		2203	4300	6503	SO:0001583	missense	55701			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21548919G>T			CCDS32041.1	CCDS32041.1	14q11.2	2012-07-24			2012-07-24			ENSG00000165801	ENSG00000165801	ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	25516	25516	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610018	610018						16143467	16143467	Standard	Standard	NM_001278529	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	uc001vzp.3	Q8TER5	Q8TER5			ENST00000298694.4:c.2474G>T	14.37:g.21548919G>T	ENSP00000298694:p.Arg825Leu		ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L	p.R825L			Q8TER5	ARH40_HUMAN			12	2601	+			825		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2474G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200219	0.58126	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02552	4.32;4.25	5.14	4.17	0.49024	5.14	4.17	0.49024	.	0.140337	0.32640	N	0.005826	T	0.02342	0.0072	N	0.19112	0.55	0.29799	N	0.832577	P;P	0.44690	0.626;0.841	B;B	0.41917	0.37;0.127	T	0.36601	-0.9741	10	0.40728	T	0.16	.	7.7204	0.28729	0.114:0.0:0.886:0.0	.	825;825	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	L	825	ENSP00000298694:R825L;ENSP00000298693:R825L	ENSP00000298693:R825L	R	+	2	0	0	ARHGEF40	20618759	20618759	0.913000	0.31002	0.998000	0.56505	0.994000	0.84299	1.078000	0.30754	2.649000	0.89929	0.655000	0.94253	CGT		0.637	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		21.787477	-11	-11	39	39			8	23.262127	23.262127	22	0.266667	1	0	0.000673444	1	0.000673444	8	22	0.266667
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		112.622501	-27	-27	85	85	NM_002072		35	112.694629	112.694629	40	0.466667	0	0	0	1	0	35	40	0.466667
DZIP1L	199221	ucsc.edu	37	3	137822328	137822328	+	Silent	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:137822328G>A	ENST00000327532.2	-	2	848	c.486C>T	c.(484-486)acC>acT	p.T162T	DZIP1L_ENST00000469243.1_Silent_p.T162T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	162					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGTAGCTGTGGGTGCCTGTCT	0.647																																																	0																	49.0	47.0	48.0					3																	137822328		2203	4300	6503	SO:0001819	synonymous_variant	199221							AK057406	AK057406	CCDS3096.1, CCDS54645.1	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163	ENSG00000158163	ENSG00000158163				26551	26551	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""DAZ interacting protein 1-like"""		"""DAZ interacting protein 1-like"""			12477932	12477932	Standard	Standard	NM_173543	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	uc003erq.3	Q8IYY4	Q8IYY4	OTTHUMG00000159819	OTTHUMG00000159819	ENST00000327532.2:c.486C>T	3.37:g.137822328G>A																		C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37		CCDS3096.1																																																																																									0.647	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1			-4	-4	67	67	NM_173543		4			22							4	22	
MED12	9968	broad.mit.edu	37	X	70339611	70339611	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chrX:70339611C>T	ENST00000374080.3	+	3	312	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	MED12_ENST00000333646.6_Missense_Mutation_p.P94S|MED12_ENST00000374102.1_Missense_Mutation_p.P94S			Q93074	MED12_HUMAN	mediator complex subunit 12	94					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCGCAGGAAGCCCCAAGTGAA	0.493			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(280-282)Ccc>Tcc	mediator complex subunit 12						47.0	44.0	45.0					X																	70339611		1951	4131	6082	SO:0001583	missense	9968			androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339611C>T	U80742	U80742	CCDS43970.1	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634	ENSG00000184634	ENSG00000184634				11957	11957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300188	300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	9225980, 10198638, 17334363, 20507344	Standard	Standard	NM_005120	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	uc004dyy.3	Q93074	Q93074	OTTHUMG00000021788	OTTHUMG00000021788	ENST00000374080.3:c.280C>T	X.37:g.70339611C>T	ENSP00000363193:p.Pro94Ser		MED12_ENST00000374102.1_Missense_Mutation_p.P94S|MED12_ENST00000374080.3_Missense_Mutation_p.P94S	p.P94S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			3	479	+	Renal(35;0.156)		94		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.280C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979662	0.34942	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.57436	0.4;0.41;0.41;0.47	5.73	2.93	0.34026	5.73	2.93	0.34026	.	0.267486	0.37261	N	0.002166	T	0.54711	0.1875	L	0.29908	0.895	0.43719	D	0.996197	P;D;P	0.89917	0.715;1.0;0.878	P;D;P	0.91635	0.805;0.999;0.792	T	0.45145	-0.9281	10	0.26408	T	0.33	-1.1292	8.0157	0.30379	0.0:0.7222:0.1287:0.1491	.	94;94;94	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	S	94;94;94;94;62	ENSP00000333125:P94S;ENSP00000363215:P94S;ENSP00000363193:P94S;ENSP00000414203:P62S	ENSP00000333125:P94S	P	+	1	0	0	MED12	70256336	70256336	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.854000	0.55949	0.248000	0.21435	0.600000	0.82982	CCC		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		44.422420	-19	-19	13	13	NM_005120		12	44.422176	44.422176	0	1.000000	0	0	0	1	0	12	0	1.0
ADAMTS12	81792	broad.mit.edu	37	5	33576198	33576198	+	Silent	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:33576198G>A	ENST00000504830.1	-	19	4268	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.G1226G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1311	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAGCCGTGGCCGTTTGTGA	0.473										HNSCC(64;0.19)																												ENST00000504830.1											0			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3931-3933)ggC>ggT	ADAM metallopeptidase with thrombospondin type 1 motif, 12						113.0	113.0	113.0					5																	33576198		2203	4300	6503	SO:0001819	synonymous_variant	81792			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576198G>A	AJ250725	AJ250725	CCDS34140.1	CCDS34140.1	5q35	2008-07-18	2005-08-19		2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	14605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606184	606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""		"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	11279086	Standard	Standard	NM_030955	NM_030955		Approved		uc003jia.1	uc003jia.1	P58397	P58397	OTTHUMG00000162088	OTTHUMG00000162088	ENST00000504830.1:c.3933C>T	5.37:g.33576198G>A			ADAMTS12_ENST00000352040.3_Silent_p.G1226G	p.G1311G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4268	-			1311	Spacer 2.	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3933C>T	CCDS34140.1																																																																																									0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		11.982244	12	12	119	119	NM_030955		13	29.004555	29.004555	102	0.113043	0	0	0	1	0	13	102	0.113043
SMCR8	140775	broad.mit.edu	37	17	18221249	18221249	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:18221249C>A	ENST00000406438.3	+	1	2626	c.2146C>A	c.(2146-2148)Cag>Aag	p.Q716K	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	716						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTCATCCGCCAGTACCCCTT	0.562																																						ENST00000406438.3											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2146-2148)Cag>Aag	Smith-Magenis syndrome chromosome region, candidate 8						84.0	65.0	72.0					17																	18221249		2203	4300	6503	SO:0001583	missense	140775						g.chr17:18221249C>A	AF467440	AF467440	CCDS11195.2	CCDS11195.2	17p11.2	2014-06-12			2014-06-12			ENSG00000176994	ENSG00000176994	ENSG00000176994	ENSG00000176994				17921	17921	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11997338, 23248642	11997338, 23248642	Standard	Standard	NM_144775	NM_144775		Approved	FLJ34716	uc002gsy.4	uc002gsy.4	Q8TEV9	Q8TEV9	OTTHUMG00000059394	OTTHUMG00000059394	ENST00000406438.3:c.2146C>A	17.37:g.18221249C>A	ENSP00000385025:p.Gln716Lys			p.Q716K	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2626	+			716		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2146C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038515	0.93630	.	.	ENSG00000176994	ENST00000406438	T	0.23950	1.88	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.21245	-1.0251	10	0.59425	D	0.04	-19.7916	20.5827	0.99408	0.0:1.0:0.0:0.0	.	716	Q8TEV9	SMCR8_HUMAN	K	716	ENSP00000385025:Q716K	ENSP00000385025:Q716K	Q	+	1	0	0	SMCR8	18161974	18161974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	CAG		0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		41.075122	-14	-14	60	60	NM_144775		16	44.361449	44.361449	46	0.258065	1	0	4.75885e-15	1	5.12491e-15	16	46	0.258065
MB21D1	115004	broad.mit.edu	37	6	74134996	74134996	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:74134996A>G	ENST00000370315.3	-	5	1617	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	508					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTCATATTCAATTTGCTTTGT	0.299																																						ENST00000370315.3											0			central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1522-1524)aTt>aCt	Mab-21 domain containing 1						36.0	36.0	36.0					6																	74134996		2203	4299	6502	SO:0001583	missense	115004						g.chr6:74134996A>G	BC012928	BC012928	CCDS4978.1	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430	ENSG00000164430	ENSG00000164430				21367	21367	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613973	613973	"""chromosome 6 open reading frame 150"""	C6orf150	"""chromosome 6 open reading frame 150"""	C6orf150				Standard	Standard	NM_138441	NM_138441		Approved		uc003pgx.1	uc003pgx.1	Q8N884	Q8N884	OTTHUMG00000015034	OTTHUMG00000015034	ENST00000370315.3:c.1523T>C	6.37:g.74134996A>G	ENSP00000359339:p.Ile508Thr		MB21D1_ENST00000370318.1_Intron	p.I508T	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			5	1617	-			508		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.1523T>C	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438861	0.63067	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	T	0.09163	3.01	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.24661	0.0598	M	0.79123	2.44	0.46678	D	0.999154	D	0.89917	1.0	D	0.91635	0.999	T	0.01405	-1.1363	10	0.41790	T	0.15	-19.2525	14.7073	0.69200	1.0:0.0:0.0:0.0	.	508	Q8N884	M21D1_HUMAN	T	508;491	ENSP00000359339:I508T	ENSP00000296913:I491T	I	-	2	0	0	MB21D1	74191717	74191717	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	5.419000	0.66435	2.219000	0.72066	0.528000	0.53228	ATT		0.299	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5		75.063826	-52	-52	54	54	NM_138441		24	75.444926	75.444926	34	0.413793	0	0	0	1	0	24	34	0.413793
DYNC1I2	1781	broad.mit.edu	37	2	172600667	172600667	+	Silent	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:172600667T>C	ENST00000397119.3	+	16	1812	c.1645T>C	c.(1645-1647)Ttg>Ctg	p.L549L	DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000409453.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000534253.2_Silent_p.L549L	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	549					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CATGGGGAGATTGGATTTGTG	0.368																																						ENST00000534253.2											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1645-1647)Ttg>Ctg	dynein, cytoplasmic 1, intermediate chain 2						72.0	66.0	68.0					2																	172600667		1832	4083	5915	SO:0001819	synonymous_variant	1781			G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172600667T>C	AK055491	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	2964	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603331	603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	10049579, 16260502	Standard	Standard	NM_001378	NM_001378		Approved		uc002uha.2	uc002uha.2	Q13409	Q13409	OTTHUMG00000154061	OTTHUMG00000154061	ENST00000397119.3:c.1645T>C	2.37:g.172600667T>C			DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000397119.3_Silent_p.L549L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000409453.1_Silent_p.L549L	p.L549L			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		16	1813	+			549		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	ENST00000397119.3	37	c.1645T>C	CCDS46450.1																																																																																									0.368	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2		8.486561	-3	-3	32	32	NM_001378		4	11.236034	11.236034	21	0.160000	0	0	0	1	0	4	21	0.16
IQGAP2	10788	broad.mit.edu	37	5	75969313	75969313	+	Silent	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:75969313A>G	ENST00000274364.6	+	25	3405	c.3108A>G	c.(3106-3108)acA>acG	p.T1036T	IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000502745.1_Silent_p.T532T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1036	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTCTAACATACCCAGAAG	0.413																																						ENST00000274364.6											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3106-3108)acA>acG	IQ motif containing GTPase activating protein 2						104.0	101.0	102.0					5																	75969313		2203	4300	6503	SO:0001819	synonymous_variant	10788			small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75969313A>G	U51903	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			2008-07-18			ENSG00000145703	ENSG00000145703	ENSG00000145703	ENSG00000145703				6111	6111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605401	605401						8756646	8756646	Standard	Standard	XM_005248409	XM_005248409		Approved		uc003kek.3	uc003kek.3	Q13576	Q13576	OTTHUMG00000162432	OTTHUMG00000162432	ENST00000274364.6:c.3108A>G	5.37:g.75969313A>G			IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000502745.1_Silent_p.T532T	p.T1036T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	25	3405	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1036	Ras-GAP.	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3108A>G	CCDS34188.1																																																																																									0.413	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1		8.914557	4	4	83	83	NM_006633		9	21.028226	21.028226	72	0.111111	0	0	0	1	0	9	72	0.111111
B4GALT4	8702	broad.mit.edu	37	3	118945808	118945808	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:118945808G>A	ENST00000483209.1	-	4	975	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000467604.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	112					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCGATACCGGCCTCTGGAC	0.502																																						ENST00000467604.1											0			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(334-336)Cgg>Tgg	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4						120.0	111.0	114.0					3																	118945808		2203	4300	6503	SO:0001583	missense	8702			membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118945808G>A	AF022367	AF022367	CCDS2986.1	CCDS2986.1	3q13.3	2013-02-19			2013-02-19			ENSG00000121578	ENSG00000121578	ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	"""Beta 4-glycosyltransferases"""	927	927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604015	604015						9597550	9597550	Standard	Standard	NM_003778	NM_003778		Approved	beta4Gal-T4	uc003eci.3	uc003eci.3	O60513	O60513	OTTHUMG00000159358	OTTHUMG00000159358	ENST00000483209.1:c.334C>T	3.37:g.118945808G>A	ENSP00000420161:p.Arg112Trp		B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000483209.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR	p.R112W			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	4	725	-			112		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.334C>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040308	0.55003	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.54071	1.57;1.57;1.57;1.57;1.57;0.59	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.389342	0.29009	N	0.013436	T	0.67230	0.2871	M	0.76170	2.325	0.43145	D	0.994904	D	0.89917	1.0	P	0.56788	0.806	T	0.68773	-0.5320	10	0.52906	T	0.07	-8.285	14.3748	0.66867	0.0:0.0:0.8524:0.1476	.	112	O60513	B4GT4_HUMAN	W	112	ENSP00000420161:R112W;ENSP00000417226:R112W;ENSP00000352144:R112W;ENSP00000377360:R112W;ENSP00000417188:R112W;ENSP00000417958:R112W	ENSP00000352144:R112W	R	-	1	2	2	B4GALT4	120428498	120428498	1.000000	0.71417	0.980000	0.43619	0.028000	0.11728	4.499000	0.60380	2.865000	0.98341	0.655000	0.94253	CGG		0.502	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2		66.710541	-29	-29	50	50	NM_003778		20	67.449796	67.449796	10	0.666667	0	0	0	1	0	20	10	0.666667
N4BP2	55728	broad.mit.edu	37	4	40146262	40146262	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:40146262A>C	ENST00000261435.6	+	16	5401	c.4985A>C	c.(4984-4986)cAt>cCt	p.H1662P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1662					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGTACTCTTCATGAGCAGAAG	0.433																																						ENST00000261435.6											0			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4984-4986)cAt>cCt	NEDD4 binding protein 2						121.0	114.0	117.0					4																	40146262		2203	4300	6503	SO:0001583	missense	55728				cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40146262A>C	AB037834	AB037834	CCDS3457.1	CCDS3457.1	4p14	2008-01-18			2008-01-18			ENSG00000078177	ENSG00000078177	ENSG00000078177	ENSG00000078177				29851	29851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""	"""BCL-3 binding protein"""								10718198, 11717310	10718198, 11717310	Standard	Standard	NM_018177	NM_018177		Approved	B3BP	uc003guy.4	uc003guy.4	Q86UW6	Q86UW6	OTTHUMG00000128599	OTTHUMG00000128599	ENST00000261435.6:c.4985A>C	4.37:g.40146262A>C	ENSP00000261435:p.His1662Pro			p.H1662P	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			16	5401	+			1662		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4985A>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893299	0.72524	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.25579	1.79	5.15	5.15	0.70609	5.15	5.15	0.70609	Domain of unknown function DUF1771 (1);	0.123240	0.53938	D	0.000057	T	0.54775	0.1879	M	0.82323	2.585	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62435	-0.6855	10	0.87932	D	0	-8.5331	14.9703	0.71229	1.0:0.0:0.0:0.0	.	1645;1662	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	P	1662;1582	ENSP00000261435:H1662P	ENSP00000261435:H1662P	H	+	2	0	0	N4BP2	39822657	39822657	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.862000	0.92283	1.925000	0.55765	0.374000	0.22700	CAT		0.433	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		187.676904	21	21	145	145	NM_018177		57	187.726607	187.726607	52	0.522936	0	0	0	1	0	57	52	0.522936
CCDC89	220388	broad.mit.edu	37	11	85397134	85397134	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr11:85397134T>G	ENST00000316398.3	-	1	186	c.40A>C	c.(40-42)Atg>Ctg	p.M14L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGGGTGTCCATCCTGGGAGCC	0.522																																						ENST00000316398.3											0			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(40-42)Atg>Ctg	coiled-coil domain containing 89						65.0	69.0	68.0					11																	85397134		2203	4299	6502	SO:0001583	missense	220388				cytoplasm|nucleus		g.chr11:85397134T>G	AK095478	AK095478	CCDS8270.1	CCDS8270.1	11q14.1	2006-03-16			2006-03-16			ENSG00000179071	ENSG00000179071	ENSG00000179071	ENSG00000179071				26762	26762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152723	NM_152723		Approved	FLJ38159	uc001pau.1	uc001pau.1	Q8N998	Q8N998	OTTHUMG00000166976	OTTHUMG00000166976	ENST00000316398.3:c.40A>C	11.37:g.85397134T>G	ENSP00000320649:p.Met14Leu			p.M14L	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	186	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	14			Missense_Mutation	SNP	ENST00000316398.3	37	c.40A>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534471	0.45073	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.195088	0.26317	N	0.025070	T	0.45316	0.1336	M	0.68317	2.08	0.30703	N	0.750139	P	0.50943	0.94	P	0.46850	0.529	T	0.56848	-0.7911	8	.	.	.	-14.4867	8.8192	0.35016	0.0:0.0845:0.0:0.9155	.	14	Q8N998	CCD89_HUMAN	L	14	.	.	M	-	1	0	0	CCDC89	85074782	85074782	0.988000	0.35896	0.988000	0.46212	0.643000	0.38383	2.299000	0.43611	2.188000	0.69820	0.533000	0.62120	ATG		0.522	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1		20.182070	7	7	98	98	NM_152723		11	28.484983	28.484983	61	0.152778	0	0	0	1	0	11	61	0.152778
NCKAP5L	57701	broad.mit.edu	37	12	50189953	50189953	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr12:50189953G>A	ENST00000335999.6	-	8	1891	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	560	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AAGGTGCTCCGAGAAAGGTCC	0.617																																						ENST00000335999.6											0			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1690-1692)Cgg>Tgg	NCK-associated protein 5-like						28.0	31.0	30.0					12																	50189953		2064	4191	6255	SO:0001583	missense	57701						g.chr12:50189953G>A	AB046822	AB046822	CCDS41781.2	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	ENSG00000167566	ENSG00000167566				29321	29321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615104	615104	"""KIAA1602"""	KIAA1602	"""KIAA1602"""	KIAA1602				Standard	Standard	NM_001037806	NM_001037806		Approved		uc009zlk.2	uc009zlk.2	Q9HCH0	Q9HCH0	OTTHUMG00000156969	OTTHUMG00000156969	ENST00000335999.6:c.1690C>T	12.37:g.50189953G>A	ENSP00000337998:p.Arg564Trp			p.R564W	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	1891	-			560	Pro-rich.	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.1690C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.771135|1.771135	0.31320|0.31320	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.47177|.	0.85|.	4.82|4.82	2.66|2.66	0.31614|0.31614	4.82|4.82	2.66|2.66	0.31614|0.31614	.|.	0.164213|.	0.29383|.	N|.	0.012313|.	T|T	0.36110|0.36110	0.0955|0.0955	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.68483|.	0.881;0.958|.	T|T	0.34453|0.34453	-0.9828|-0.9828	10|6	0.66056|0.72032	D|D	0.02|0.01	-18.4741|-18.4741	13.6948|13.6948	0.62572|0.62572	0.0:0.0:0.6836:0.3163|0.0:0.0:0.6836:0.3163	.|.	560;560|.	E2QRB5;Q9HCH0-2|.	.;.|.	W|L	564;560|278	ENSP00000337998:R564W|.	ENSP00000337998:R564W|ENSP00000402619:S278L	R|S	-|-	1|2	2|0	2|0	NCKAP5L|NCKAP5L	48476220|48476220	48476220|48476220	0.000000|0.000000	0.05858|0.05858	0.977000|0.977000	0.42913|0.42913	0.784000|0.784000	0.44337|0.44337	-0.029000|-0.029000	0.12329|0.12329	0.579000|0.579000	0.29504|0.29504	-1.367000|-1.367000	0.01198|0.01198	CGG|TCG		0.617	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		49.901121	-17	-17	31	31	XM_035497		16	49.907555	49.907555	17	0.484848	0	0	0	1	0	16	17	0.484848
SPEG	10290	broad.mit.edu	37	2	220344823	220344823	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:220344823T>C	ENST00000312358.7	+	25	5435	c.5303T>C	c.(5302-5304)aTt>aCt	p.I1768T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1768	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACCCGAGATTGTCAATCAG	0.607																																						ENST00000312358.7											0			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5302-5304)aTt>aCt	SPEG complex locus						81.0	86.0	84.0					2																	220344823		2097	4234	6331	SO:0001583	missense	10290			muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344823T>C	BC006346	BC006346	CCDS42824.1, CCDS54432.1	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	16901	16901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615950	615950	"""aortic preferentially expressed gene 1"""	APEG1	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	8663449, 10973969	Standard	Standard	NM_005876	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	uc010fwg.3	Q15772	Q15772	OTTHUMG00000058925	OTTHUMG00000058925	ENST00000312358.7:c.5303T>C	2.37:g.220344823T>C	ENSP00000311684:p.Ile1768Thr		SPEG_ENST00000485813.1_3'UTR	p.I1768T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	25	5435	+		Renal(207;0.0183)	1768	Protein kinase 1.	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5303T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	t	15.03	2.711137	0.48517	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.55	3.36	0.38483	4.55	3.36	0.38483	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169966	0.27922	N	0.017320	T	0.79058	0.4382	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79876	-0.1618	10	0.87932	D	0	.	10.6646	0.45723	0.1436:0.0:0.0:0.8564	.	1768	Q15772	SPEG_HUMAN	T	1768	ENSP00000311684:I1768T	ENSP00000265327:I1768T	I	+	2	0	0	SPEG	220053067	220053067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	0.851000	0.35264	0.492000	0.49549	ATT		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		65.664276	-8	-8	50	50	NM_005876		21	66.431277	66.431277	35	0.375000	0	0	0	1	0	21	35	0.375
TAPT1-AS1	202020	broad.mit.edu	37	4	16309149	16309149	+	RNA	DEL	A	A	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:16309149delA	ENST00000573950.1	+	0	434									TAPT1 antisense RNA 1 (head to head)																		GGTGGAGGGGAAAAATGGAGT	0.512																																						ENST00000573950.1											0																																																0						g.chr4:16309149delA					4p15.32	2012-11-06	2012-11-06		2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327	ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	"""Long non-coding RNAs"""	26832	26832	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding												Standard	Standard	NR_027696	NR_027696		Approved	FLJ39653					OTTHUMG00000160321	OTTHUMG00000160321		4.37:g.16309149delA											0	434	+						RNA	DEL	ENST00000573950.1	37																																																																																											0.512	TAPT1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000439458.1	.	.	-1	-1	5	5	NR_027696		2			4	0.33						2	4	0.33
GPC5	2262	broad.mit.edu	37	13	93518657	93518658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr13:93518657_93518658insT	ENST00000377067.3	+	8	2056_2057	c.1684_1685insT	c.(1684-1686)atafs	p.I562fs		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	562					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTCACTCTGATAAGTGTGGTG	0.446																																						ENST00000377067.3											0			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1684-1686)atafs	glypican 5																																			SO:0001589	frameshift_variant	2262				anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518657_93518658insT	AF001462	AF001462	CCDS9468.1	CCDS9468.1	13q32	2011-08-01			2011-08-01			ENSG00000179399	ENSG00000179399	ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	"""Proteoglycans / Cell Surface : Glypicans"""	4453	4453	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	"""glypican proteoglycan 5"""	602446	602446						9070915, 20304703, 19556317, 15057823	9070915, 20304703, 19556317, 15057823	Standard	Standard	NM_004466	NM_004466		Approved		uc010tif.2	uc010tif.2	P78333	P78333	OTTHUMG00000017200	OTTHUMG00000017200	ENST00000377067.3:c.1685dupT	13.37:g.93518658_93518658dupT	ENSP00000366267:p.Ile562fs			p.I562fs	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2056_2057	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	562		B2R726|O60436|Q9BX27	Frame_Shift_Ins	INS	ENST00000377067.3	37	c.1684_1685insT	CCDS9468.1																																																																																									0.446	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	.	.	11	11	122	122	NM_004466		90			59	0.60						90	59	0.6
ZFP62	643836	broad.mit.edu	37	5	180276131	180276131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:180276131delA	ENST00000502412.1	-	2	2421	c.2364delT	c.(2362-2364)gatfs	p.D788fs	ZFP62_ENST00000359141.6_Frame_Shift_Del_p.D728fs|ZFP62_ENST00000512132.1_Frame_Shift_Del_p.D755fs|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	788					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCACACTCATCACATTCAT	0.468																																						ENST00000359141.6											0			NS(1)|endometrium(2)|pancreas(1)	4						c.(2182-2184)gatfs	ZFP62 zinc finger protein						111.0	92.0	98.0					5																	180276131		692	1591	2283	SO:0001589	frameshift_variant	643836			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr5:180276131delA	AK002206	AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27		2013-01-08	2012-11-27			ENSG00000196670		ENSG00000196670		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	23241	23241	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610281	610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""		"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	8808410	Standard	Standard	NM_152283	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	uc011dhf.2	Q8NB50	Q8NB50			ENST00000502412.1:c.2364delT	5.37:g.180276131delA	ENSP00000423820:p.Asp788fs		ZFP62_ENST00000512132.1_Frame_Shift_Del_p.D755fs|ZFP62_ENST00000502412.1_Frame_Shift_Del_p.D788fs|ZFP62_ENST00000506377.1_Intron	p.D728fs	NM_152283.4	NP_689496.4	Q8NB50	ZFP62_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2503	-	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	788		B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Frame_Shift_Del	DEL	ENST00000502412.1	37	c.2184delT	CCDS54955.1																																																																																									0.468	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	.	.	5	5	7	7	NM_152283		2			4	0.33						2	4	0.33
PODXL2	50512	broad.mit.edu	37	3	127391153	127391153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:127391153delG	ENST00000342480.6	+	8	1687	c.1648delG	c.(1648-1650)gacfs	p.D550fs	ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	550					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCTGCCACGACAACCCCAC	0.726																																						ENST00000342480.6											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1648-1650)gacfs	podocalyxin-like 2						5.0	7.0	6.0					3																	127391153		1919	3802	5721	SO:0001589	frameshift_variant	50512			leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127391153delG	AF219137	AF219137	CCDS3044.1	CCDS3044.1	3q21.3	2005-02-18			2005-02-18			ENSG00000114631	ENSG00000114631	ENSG00000114631	ENSG00000114631				17936	17936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""endoglycan"""	"""endoglycan"""								10722749	10722749	Standard	Standard	NM_015720	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	uc003ejq.3	Q9NZ53	Q9NZ53	OTTHUMG00000159642	OTTHUMG00000159642	ENST00000342480.6:c.1648delG	3.37:g.127391153delG	ENSP00000345359:p.Asp550fs			p.D550fs	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			8	1687	+			550		Q6UVY4|Q8WUV6	Frame_Shift_Del	DEL	ENST00000342480.6	37	c.1648delG	CCDS3044.1																																																																																									0.726	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	.	.	3	3	6	6	NM_015720		2			4	0.33						2	4	0.33
ANKRD6	22881	broad.mit.edu	37	6	90327729	90327737	+	In_Frame_Del	DEL	TCTCCTTAC	TCTCCTTAC	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:90327729_90327737delTCTCCTTAC	ENST00000522441.1	+	9	1412_1420	c.771_779delTCTCCTTAC	c.(769-780)cttctccttact>ctt	p.LLT258del	ANKRD6_ENST00000369408.5_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	258					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAGTTGCTCTTCTCCTTACTAAAGCTCCC	0.536																																						ENST00000369408.5											0			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(769-780)cttctccttact>ctt	ankyrin repeat domain 6																																			SO:0001651	inframe_deletion	22881					protein binding	g.chr6:90327729_90327737delTCTCCTTAC	AB023174	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			2013-03-20			ENSG00000135299	ENSG00000135299	ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	17280	17280	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610583	610583								Standard	Standard	NM_001242809	NM_001242809		Approved	KIAA0957	uc003pni.4	uc003pni.4	Q9Y2G4	Q9Y2G4	OTTHUMG00000015202	OTTHUMG00000015202	ENST00000522441.1:c.771_779delTCTCCTTAC	6.37:g.90327729_90327737delTCTCCTTAC	ENSP00000430985:p.Leu258_Thr260del		ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000522441.1_In_Frame_Del_p.LLT258del	p.LLT258del	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	9	1120_1128	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	258		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	In_Frame_Del	DEL	ENST00000522441.1	37	c.771_779delTCTCCTTAC	CCDS56441.1																																																																																									0.536	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1	.	.	-18	-18	106	106			32			68	0.32						32	68	0.32
ING3	54556	broad.mit.edu	37	7	120609120	120609121	+	Frame_Shift_Ins	INS	-	-	TAAT			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr7:120609120_120609121insTAAT	ENST00000315870.5	+	9	918_919	c.770_771insTAAT	c.(769-774)aataatfs	p.-258fs	ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GCATTTAAGAATAATGACTTTC	0.342																																						ENST00000315870.5											0			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(769-774)aataatfs	inhibitor of growth family, member 3																																			SO:0001589	frameshift_variant	54556			histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120609120_120609121insTAAT	AF074968	AF074968	CCDS5778.1, CCDS35497.1	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			2013-01-28			ENSG00000071243	ENSG00000071243	ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	14587	14587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607493	607493						12080476	12080476	Standard	Standard	NM_019071	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	uc003vjn.3	Q9NXR8	Q9NXR8	OTTHUMG00000141270	OTTHUMG00000141270	ENST00000315870.5:c.771_774dupTAAT	7.37:g.120609121_120609124dupTAAT	ENSP00000320566:p.Asn258fs		ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	p.-258fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN			9	918_919	+	all_neural(327;0.117)				A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Frame_Shift_Ins	INS	ENST00000315870.5	37	c.770_771insTAAT	CCDS5778.1																																																																																									0.342	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	.	.	1	1	73	73	NM_019071		16			44	0.26						16	44	0.26
