#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
PPP4R1	9989	broad.mit.edu	37	18	9550172	9550172	+	Missense_Mutation	SNP	C	C	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr18:9550172C>A	ENST00000400556.3	-	18	2498	c.2425G>T	c.(2425-2427)Gtg>Ttg	p.V809L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.V792L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	809					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AGCTTCTTCACCATCTCGCTG	0.483																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3											0			large_intestine(1)|skin(2)	3						c.(2425-2427)Gtg>Ttg	protein phosphatase 4, regulatory subunit 1						72.0	80.0	77.0					18																	9550172		2074	4215	6289	SO:0001583	missense	9989			protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9550172C>A	AF111106	AF111106	CCDS42412.1, CCDS42413.1	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			2010-06-18			ENSG00000154845	ENSG00000154845	ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	9320	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604908	604908						10026142	10026142	Standard	Standard	NM_001042388	NM_001042388		Approved	PP4R1	uc002koe.2	uc002koe.2	Q8TF05	Q8TF05	OTTHUMG00000137466	OTTHUMG00000137466	ENST00000400556.3:c.2425G>T	18.37:g.9550172C>A	ENSP00000383402:p.Val809Leu		PPP4R1_ENST00000400555.3_Missense_Mutation_p.V792L	p.V809L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			18	2498	-			809		Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2425G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755744	0.15846	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.28069	1.63;1.63	5.62	5.62	0.85841	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.229234	0.38492	N	0.001671	T	0.14442	0.0349	N	0.02865	-0.47	0.53688	D	0.999975	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.10450	0.004;0.003;0.005	T	0.17715	-1.0360	9	.	.	.	-29.6409	15.5022	0.75709	0.0:0.8622:0.1378:0.0	.	792;809;792	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	L	809;792	ENSP00000383402:V809L;ENSP00000383401:V792L	.	V	-	1	0	0	PPP4R1	9540172	9540172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.728000	0.47319	2.804000	0.96469	0.655000	0.94253	GTG		0.483	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1		53.737057	0	0	64	64	NM_005134		18	54.495149	54.495149	31	0.367347	1	0	2.70639e-06	1	2.80663e-06	18	31	0.367347
POU4F1	5457	broad.mit.edu	37	13	79175838	79175838	+	Silent	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr13:79175838C>T	ENST00000377208.5	-	2	1183	c.972G>A	c.(970-972)gcG>gcA	p.A324A	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	324	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TGGGCTTGAGCGCGATCATGT	0.637																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5											0			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(970-972)gcG>gcA	POU class 4 homeobox 1						38.0	36.0	37.0					13																	79175838		2203	4300	6503	SO:0001819	synonymous_variant	5457			axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175838C>T	X64624	X64624	CCDS31996.1	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192	ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	"""Homeoboxes / POU class"""	9218	9218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601632	601632	"""POU domain class 4, transcription factor 1"""	BRN3A	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	1357630	Standard	Standard	NM_006237	NM_006237		Approved	RDC-1	uc001vkv.3	uc001vkv.3	Q01851	Q01851	OTTHUMG00000017119	OTTHUMG00000017119	ENST00000377208.5:c.972G>A	13.37:g.79175838C>T			RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	p.A324A	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1183	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	324	POU-specific.	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.972G>A	CCDS31996.1																																																																																									0.637	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		3.413491	0	0	25	25			3	6.950111	6.950111	22	0.120000	0	0	0	1	0	3	22	0.12
DNAH8	1769	broad.mit.edu	37	6	38828378	38828378	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr6:38828378G>A	ENST00000359357.3	+	41	5707	c.5453G>A	c.(5452-5454)cGt>cAt	p.R1818H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1818	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTACTGATCGTCTTGTTATC	0.289																																						ENST00000359357.3											0			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5452-5454)cGt>cAt	dynein, axonemal, heavy chain 8						97.0	98.0	98.0					6																	38828378		2203	4299	6502	SO:0001583	missense	1769						g.chr6:38828378G>A	Z83806	Z83806	CCDS75447.1	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2952	2952	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603337	603337	"""dynein, axonemal, heavy polypeptide 8"""		"""dynein, axonemal, heavy polypeptide 8"""			9373155	9373155	Standard	Standard	NM_001206927	NM_001206927		Approved	hdhc9	uc021yzh.1	uc021yzh.1	Q96JB1	Q96JB1	OTTHUMG00000016253	OTTHUMG00000016253	ENST00000359357.3:c.5453G>A	6.37:g.38828378G>A	ENSP00000352312:p.Arg1818His		DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818H	p.R1818H							41	5707	+					O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5453G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.178752	0.94846	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.15017	2.46;2.46;2.46	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64024	-0.6504	10	0.87932	D	0	.	19.177	0.93605	0.0:0.0:1.0:0.0	.	1818	Q96JB1	DYH8_HUMAN	H	2023;2023;1818;1818	ENSP00000333363:R2023H;ENSP00000352312:R1818H;ENSP00000402294:R1818H	ENSP00000333363:R2023H	R	+	2	0	0	DNAH8	38936356	38936356	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	CGT		0.289	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		5.770815	0	0	74	74	NM_001206927		7	17.469906	17.469906	65	0.097222	0	0	0	1	0	7	65	0.097222
LILRA2	11027	broad.mit.edu	37	19	55086935	55086935	+	Missense_Mutation	SNP	G	G	A	rs368237647		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:55086935G>A	ENST00000251377.3	+	6	1001	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290R|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	290	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657																																						ENST00000251377.3											1	Substitution - Missense(1)	lung(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(868-870)Ggg>Agg	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	49.0	50.0	50.0		868,868	-0.9	0.0	19		50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	125,125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	290/484,290/467	55086935	1,13003	2203	4299	6502	SO:0001583	missense	0						g.chr19:55086935G>A	U82275	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			2013-01-11			ENSG00000239998	ENSG00000239998	ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	6603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604812	604812						9079806, 9548455	9079806, 9548455	Standard	Standard	XM_005258452	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7			Q8N149	Q8N149	OTTHUMG00000065703	OTTHUMG00000065703	ENST00000251377.3:c.868G>A	19.37:g.55086935G>A	ENSP00000251377:p.Gly290Arg		LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290R|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290R|LILRB1_ENST00000448689.1_Intron	p.G290R						GBM - Glioblastoma multiforme(193;0.0963)	6	1001	+					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.868G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443974	0.25987	0.0	1.16E-4	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	2.8	-0.934	0.10428	2.8	-0.934	0.10428	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.218720	0.06017	N	0.650667	T	0.12944	0.0314	L	0.33753	1.03	0.09310	N	1	P;P;P;P	0.49559	0.925;0.692;0.692;0.514	P;B;B;B	0.46299	0.511;0.344;0.344;0.231	T	0.26395	-1.0104	10	0.52906	T	0.07	.	5.3337	0.15945	0.4728:0.0:0.5272:0.0	.	290;278;290;290	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	290;290;290;290;278	ENSP00000388131:G290R;ENSP00000251377:G290R;ENSP00000375618:G290R;ENSP00000251376:G290R;ENSP00000375617:G278R	ENSP00000251376:G290R	G	+	1	0	0	LILRA2	59778747	59778747	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-1.676000	0.01946	-0.239000	0.09710	0.400000	0.26472	GGG		0.657	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		94.246578	0	0	54	54			30	94.300764	94.300764	34	0.468750	0	0	0	1	0	30	34	0.46875
MTOR	2475	broad.mit.edu	37	1	11169412	11169412	+	Missense_Mutation	SNP	A	A	C			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169412A>C	ENST00000361445.4	-	56	7539	c.7463T>G	c.(7462-7464)gTg>gGg	p.V2488G	MTOR_ENST00000376838.1_Missense_Mutation_p.V693G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2488	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTCTGGTTTCACCAAACCGTC	0.393																																						ENST00000361445.4											0			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7462-7464)gTg>gGg	mechanistic target of rapamycin (serine/threonine kinase)						134.0	123.0	127.0					1																	11169412		2203	4300	6503	SO:0001583	missense	2475			cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11169412A>C	L34075	L34075	CCDS127.1	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	ENSG00000198793	ENSG00000198793				3942	3942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	8008069, 8660990	Standard	Standard	NM_004958	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	uc001asd.3	P42345	P42345	OTTHUMG00000002001	OTTHUMG00000002001	ENST00000361445.4:c.7463T>G	1.37:g.11169412A>C	ENSP00000354558:p.Val2488Gly		MTOR_ENST00000376838.1_Missense_Mutation_p.V693G	p.V2488G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7539	-			2488	PI3K/PI4K.	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7463T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428641	0.43122	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.23552	3.21;2.96;1.9	5.82	5.82	0.92795	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.056274	0.64402	D	0.000001	T	0.13200	0.0320	N	0.04297	-0.235	0.80722	D	1	B	0.20671	0.047	B	0.18263	0.021	T	0.17137	-1.0379	10	0.24483	T	0.36	-21.7174	13.9151	0.63893	1.0:0.0:0.0:0.0	.	2488	P42345	MTOR_HUMAN	G	2488;693;144	ENSP00000354558:V2488G;ENSP00000366034:V693G;ENSP00000398745:V144G	ENSP00000354558:V2488G	V	-	2	0	0	MTOR	11091999	11091999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	2.223000	0.72356	0.482000	0.46254	GTG		0.393	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		170.713520	0	0	110	110	NM_004958		49	178.406859	178.406859	7	0.875000	0	0	0	1	0	49	7	0.875
LSM1	27257	broad.mit.edu	37	8	38021245	38021245	+	Missense_Mutation	SNP	C	C	G			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:38021245C>G	ENST00000311351.4	-	4	740	c.345G>C	c.(343-345)caG>caC	p.Q115H	RP11-90P5.7_ENST00000521915.1_RNA|RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	115					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCTTCAGGGCCTGCACTTTCA	0.488																																						ENST00000311351.4											0			kidney(2)|large_intestine(3)|lung(2)	7						c.(343-345)caG>caC	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)						160.0	133.0	142.0					8																	38021245		2203	4300	6503	SO:0001583	missense	27257			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38021245C>G	AF000177	AF000177	CCDS6103.1	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324	ENSG00000175324	ENSG00000175324				20472	20472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607281	607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""		"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	12515382, 11953827	Standard	Standard	NM_014462	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	uc003xkw.3	O15116	O15116	OTTHUMG00000164051	OTTHUMG00000164051	ENST00000311351.4:c.345G>C	8.37:g.38021245C>G	ENSP00000310596:p.Gln115His		RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR	p.Q115H	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN			4	740	-	Colorectal(12;0.000442)		115		B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.345G>C	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413204	0.42817	.	.	ENSG00000175324	ENST00000311351	.	.	.	5.91	2.64	0.31445	5.91	2.64	0.31445	.	0.053094	0.85682	D	0.000000	T	0.46795	0.1411	L	0.48362	1.52	0.80722	D	1	P	0.37038	0.579	B	0.34418	0.182	T	0.48445	-0.9035	9	0.62326	D	0.03	-10.3867	9.8378	0.40980	0.0:0.6306:0.0:0.3694	.	115	O15116	LSM1_HUMAN	H	115	.	ENSP00000310596:Q115H	Q	-	3	2	2	LSM1	38140402	38140402	1.000000	0.71417	0.963000	0.40424	0.817000	0.46193	1.652000	0.37313	0.791000	0.33826	0.650000	0.86243	CAG		0.488	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1		60.967260	0	0	58	58	NM_014462		21	61.083299	61.083299	26	0.446809	0	0	0	1	0	21	26	0.446809
COL14A1	7373	broad.mit.edu	37	8	121224799	121224799	+	Missense_Mutation	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:121224799C>T	ENST00000297848.3	+	13	1850	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T432M|COL14A1_ENST00000537875.1_Missense_Mutation_p.T527M|COL14A1_ENST00000309791.4_Missense_Mutation_p.T527M|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTGTTACGGGACAAGAA	0.443																																						ENST00000297848.3											0			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1579-1581)aCg>aTg	collagen, type XIV, alpha 1						111.0	101.0	104.0					8																	121224799		2203	4300	6503	SO:0001583	missense	7373			cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121224799C>T			CCDS34938.1	CCDS34938.1	8q23	2013-02-11	2008-02-04		2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	"""Collagens"", ""Fibronectin type III domain containing"""	2191	2191	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120324	120324	"""undulin"""	UND	"""undulin"""	UND		1716629, 9427527	1716629, 9427527	Standard	Standard	NM_021110	NM_021110		Approved		uc003yox.4	uc003yox.4	Q05707	Q05707	OTTHUMG00000149877	OTTHUMG00000149877	ENST00000297848.3:c.1580C>T	8.37:g.121224799C>T	ENSP00000297848:p.Thr527Met		COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T527M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T432M|COL14A1_ENST00000537875.1_Missense_Mutation_p.T527M	p.T527M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		13	1850	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		527	Fibronectin type-III 3.		Missense_Mutation	SNP	ENST00000297848.3	37	c.1580C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591516	0.86953	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	6.17	6.17	0.99709	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.053628	0.64402	D	0.000001	T	0.30947	0.0781	M	0.86268	2.805	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;P	0.65233	0.933;0.825	T	0.01071	-1.1461	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	527;527	Q05707-2;Q05707	.;COEA1_HUMAN	M	527;527;527;432;340	ENSP00000443974:T527M;ENSP00000311809:T527M;ENSP00000297848:T527M;ENSP00000247781:T432M;ENSP00000409461:T340M	ENSP00000247781:T432M	T	+	2	0	0	COL14A1	121293980	121293980	1.000000	0.71417	0.912000	0.35992	0.952000	0.60782	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	ACG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		330.526719	0	0	60	60	NM_021110		96	342.270037	342.270037	20	0.827586	0	0	0	1	0	96	20	0.827586
TSC22D4	81628	broad.mit.edu	37	7	100074941	100074941	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr7:100074941G>A	ENST00000300181.2	-	2	1475	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	TSC22D4_ENST00000393991.1_Missense_Mutation_p.R2W|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	241					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCGCAGCCGCATGTCTACA	0.652																																						ENST00000300181.2											0			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(721-723)Cgg>Tgg	TSC22 domain family, member 4						61.0	65.0	64.0					7																	100074941		2203	4300	6503	SO:0001583	missense	81628			negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100074941G>A	BC010406	BC010406	CCDS5695.1	CCDS5695.1	7p21-p15	2010-04-30			2010-04-30			ENSG00000166925	ENSG00000166925	ENSG00000166925	ENSG00000166925				21696	21696	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611914	611914								Standard	Standard	NM_030935	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	uc003uva.3	Q9Y3Q8	Q9Y3Q8	OTTHUMG00000150233	OTTHUMG00000150233	ENST00000300181.2:c.721C>T	7.37:g.100074941G>A	ENSP00000300181:p.Arg241Trp		TSC22D4_ENST00000393991.1_Missense_Mutation_p.R2W|TSC22D4_ENST00000496728.1_5'UTR	p.R241W	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			2	1475	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		241		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.721C>T	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802794	0.31869	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	4.33	3.35	0.38373	4.33	3.35	0.38373	.	0.358712	0.20599	N	0.089183	T	0.19886	0.0478	N	0.14661	0.345	0.21290	N	0.99974	D;D	0.60160	0.987;0.978	P;B	0.47705	0.555;0.249	T	0.04664	-1.0935	9	0.42905	T	0.14	-4.8287	6.3839	0.21550	0.136:0.0:0.864:0.0	.	241;241	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	W	241;2	.	ENSP00000300181:R241W	R	-	1	2	2	TSC22D4	99912877	99912877	0.739000	0.28196	0.608000	0.28969	0.589000	0.36550	1.724000	0.38064	2.255000	0.74692	0.549000	0.68633	CGG		0.652	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1		-1.635802	0	0	64	64	NM_030935		4	8.155715	8.155715	49	0.075472	0	0	0	1	0	4	49	0.075472
ARSJ	79642	broad.mit.edu	37	4	114823726	114823726	+	Missense_Mutation	SNP	G	G	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr4:114823726G>T	ENST00000315366.7	-	2	2370	c.1504C>A	c.(1504-1506)Cca>Aca	p.P502T	ARSJ_ENST00000541197.1_Missense_Mutation_p.P502T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	502					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTCTCATATGGGTCGGCTGTG	0.512																																						ENST00000315366.7											0			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(1504-1506)Cca>Aca	arylsulfatase family, member J						77.0	74.0	75.0					4																	114823726		1929	4132	6061	SO:0001583	missense	79642				extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114823726G>T			CCDS43264.1	CCDS43264.1	4q26	2013-02-14	2006-03-07		2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801	ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	"""Arylsulfatase family"""	26286	26286	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610010	610010	"""arylsulfatase J"""		"""arylsulfatase J"""			12975309, 16174644	12975309, 16174644	Standard	Standard	NM_024590	NM_024590		Approved	FLJ23548	uc003ibq.1	uc003ibq.1	Q5FYB0	Q5FYB0	OTTHUMG00000161067	OTTHUMG00000161067	ENST00000315366.7:c.1504C>A	4.37:g.114823726G>T	ENSP00000320219:p.Pro502Thr		ARSJ_ENST00000541197.1_Missense_Mutation_p.P502T	p.P502T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2370	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	502		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.1504C>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046908	0.75846	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.98234	-4.81;-4.81	5.41	5.41	0.78517	5.41	5.41	0.78517	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.369476	0.27526	N	0.018969	D	0.99360	0.9775	H	0.96547	3.84	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98730	1.0712	10	0.72032	D	0.01	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	502;502	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	T	502;502;71	ENSP00000320219:P502T;ENSP00000438836:P502T	ENSP00000320219:P502T	P	-	1	0	0	ARSJ	115043175	115043175	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.697000	0.98697	2.544000	0.85801	0.655000	0.94253	CCA		0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1		62.495828	0	0	57	57	NM_024590		20	62.616527	62.616527	25	0.444444	1	0	1.96292e-10	1	2.11392e-10	20	25	0.444444
VCL	7414	ucsc.edu	37	10	75867112	75867112	+	Splice_Site	SNP	A	A	G			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr10:75867112A>G	ENST00000211998.4	+	17	2653	c.2559A>G	c.(2557-2559)cgA>cgG	p.R853R	VCL_ENST00000372755.3_Splice_Site_p.R853R|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	853	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AACAACTCCGAGTAAGTAAAT	0.512																																																	0																	54.0	53.0	53.0					10																	75867112		2203	4300	6503	SO:0001630	splice_region_variant	7414							M33308	M33308	CCDS7340.1, CCDS7341.1	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			2014-09-17			ENSG00000035403	ENSG00000035403	ENSG00000035403	ENSG00000035403				12665	12665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""metavinculin"""	"""metavinculin"""	193065	193065						1339348	1339348	Standard	Standard	NM_014000	NM_014000		Approved		uc001jwd.3	uc001jwd.3	P18206	P18206	OTTHUMG00000018498	OTTHUMG00000018498	ENST00000211998.4:c.2559+1A>G	10.37:g.75867112A>G																		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37		CCDS7341.1																																																																																									0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				0	0	50	50	NM_003373, NM_014000	Silent	4			30							4	30	
APLF	200558	broad.mit.edu	37	2	68753323	68753323	+	Silent	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr2:68753323A>T	ENST00000303795.4	+	6	924	c.753A>T	c.(751-753)acA>acT	p.T251T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	251					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AACAAGACACAGGAGAAGAGT	0.338																																						ENST00000303795.4											0			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(751-753)acA>acT	aprataxin and PNKP like factor						108.0	112.0	110.0					2																	68753323		2203	4300	6503	SO:0001819	synonymous_variant	200558			double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68753323A>T	BC030711	BC030711	CCDS1888.1	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621	ENSG00000169621	ENSG00000169621				28724	28724	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	611035	"""chromosome 2 open reading frame 13"""	C2orf13	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	18474613, 18077224, 17353262	Standard	Standard	NM_173545	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	uc002sep.3	Q8IW19	Q8IW19	OTTHUMG00000129566	OTTHUMG00000129566	ENST00000303795.4:c.753A>T	2.37:g.68753323A>T				p.T251T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			6	924	+			251		A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.753A>T	CCDS1888.1																																																																																									0.338	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1		-4.722614	0	0	60	60	NM_173545		3	6.777261	6.777261	52	0.054545	0	0	0	1	0	3	52	0.054545
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		77.036419	0	0	81	81	NM_002067		26	77.860796	77.860796	42	0.382353	0	0	0	1	0	26	42	0.382353
MTOR	2475	broad.mit.edu	37	1	11169374	11169374	+	Missense_Mutation	SNP	T	T	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169374T>A	ENST00000361445.4	-	56	7577	c.7501A>T	c.(7501-7503)Att>Ttt	p.I2501F	MTOR_ENST00000376838.1_Missense_Mutation_p.I706F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2501	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACCCTGTTAATAATCTGGATA	0.413																																						ENST00000361445.4											0			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7501-7503)Att>Ttt	mechanistic target of rapamycin (serine/threonine kinase)						177.0	156.0	163.0					1																	11169374		2203	4300	6503	SO:0001583	missense	2475			cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11169374T>A	L34075	L34075	CCDS127.1	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	ENSG00000198793	ENSG00000198793				3942	3942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	8008069, 8660990	Standard	Standard	NM_004958	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	uc001asd.3	P42345	P42345	OTTHUMG00000002001	OTTHUMG00000002001	ENST00000361445.4:c.7501A>T	1.37:g.11169374T>A	ENSP00000354558:p.Ile2501Phe		MTOR_ENST00000376838.1_Missense_Mutation_p.I706F	p.I2501F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7577	-			2501	PI3K/PI4K.	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7501A>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180381	0.78677	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.28454	3.1;2.84;1.61	5.82	5.82	0.92795	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.85197	2.74	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.61178	-0.7115	10	0.72032	D	0.01	-1.8424	13.9151	0.63893	0.0:0.0:0.0:1.0	.	2501	P42345	MTOR_HUMAN	F	2501;706;157	ENSP00000354558:I2501F;ENSP00000366034:I706F;ENSP00000398745:I157F	ENSP00000354558:I2501F	I	-	1	0	0	MTOR	11091961	11091961	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.466000	0.80914	2.223000	0.72356	0.482000	0.46254	ATT		0.413	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		13.329645	0	0	122	122	NM_004958		9	21.782087	21.782087	57	0.136364	0	0	0	1	0	9	57	0.136364
REC114	283677	broad.mit.edu	37	15	73852150	73852150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr15:73852150G>T	ENST00000331090.6	+	6	722	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E204*	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		232					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						ATGGGGTGCAGAAGAGTTAGG	0.478																																						ENST00000331090.6											0			endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						c.(694-696)Gaa>Taa	chromosome 15 open reading frame 60						91.0	89.0	89.0					15																	73852150		1850	4085	5935	SO:0001587	stop_gained	283677						g.chr15:73852150G>T																																																	ENST00000331090.6:c.694G>T	15.37:g.73852150G>T	ENSP00000328423:p.Glu232*		C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E204*	p.E232*	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN			6	722	+			232			Nonsense_Mutation	SNP	ENST00000331090.6	37	c.694G>T	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530040	0.27387	.	.	ENSG00000183324	ENST00000331090	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.694289	0.14214	N	0.333848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-5.7041	15.7463	0.77944	0.0:0.1456:0.8544:0.0	.	.	.	.	X	232	.	ENSP00000328423:E232X	E	+	1	0	0	C15orf60	71639203	71639203	0.924000	0.31332	0.008000	0.14137	0.431000	0.31685	3.797000	0.55514	2.857000	0.98124	0.650000	0.86243	GAA		0.478	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		0.097933	0	0	87	87			6	12.540485	12.540485	65	0.084507	1	0	0.00198382	1	0.00198382	6	65	0.084507
GMEB2	26205	broad.mit.edu	37	20	62236098	62236098	+	Nonsense_Mutation	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:62236098A>T	ENST00000266068.1	-	2	705	c.227T>A	c.(226-228)tTa>tAa	p.L76*	GMEB2_ENST00000370069.1_Nonsense_Mutation_p.L25*|GMEB2_ENST00000370077.1_Nonsense_Mutation_p.L76*			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	76					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CTTCCTACCTAACACGGCTTC	0.572																																						ENST00000266068.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(226-228)tTa>tAa	glucocorticoid modulatory element binding protein 2						74.0	72.0	73.0					20																	62236098		2203	4300	6503	SO:0001587	stop_gained	26205			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236098A>T	AF173867	AF173867	CCDS13528.1	CCDS13528.1	20q13.33	2008-07-02			2008-07-02			ENSG00000101216	ENSG00000101216	ENSG00000101216	ENSG00000101216				4371	4371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607451	607451						10523663, 11743720	10523663, 11743720	Standard	Standard	NM_012384	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	uc002yfq.1	Q9UKD1	Q9UKD1	OTTHUMG00000032988	OTTHUMG00000032988	ENST00000266068.1:c.227T>A	20.37:g.62236098A>T	ENSP00000266068:p.Leu76*		GMEB2_ENST00000370077.1_Nonsense_Mutation_p.L76*|GMEB2_ENST00000370069.1_Nonsense_Mutation_p.L25*	p.L76*			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	705	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		76		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Nonsense_Mutation	SNP	ENST00000266068.1	37	c.227T>A	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	A	38	6.668376	0.97747	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	.	.	.	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.090745	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-8.4045	14.1277	0.65233	1.0:0.0:0.0:0.0	.	.	.	.	X	25;76;76	.	ENSP00000266068:L76X	L	-	2	0	0	GMEB2	61706542	61706542	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.709000	0.68384	1.822000	0.53115	0.379000	0.24179	TTA		0.572	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1		14.439090	0	0	69	69	NM_012384		9	21.255279	21.255279	50	0.152542	0	0	0	1	0	9	50	0.152542
SHANK1	50944	broad.mit.edu	37	19	51220008	51220008	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:51220008G>A	ENST00000293441.1	-	1	187	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	SHANK1_ENST00000359082.3_Missense_Mutation_p.L57F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L57F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	57					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGCCCTGGAGGCCTCTAACA	0.672																																						ENST00000293441.1											0			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(169-171)Ctc>Ttc	SH3 and multiple ankyrin repeat domains 1						51.0	46.0	48.0					19																	51220008		2203	4300	6503	SO:0001583	missense	50944			cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51220008G>A	AF163302	AF163302	CCDS12799.1	CCDS12799.1	19q13.3	2013-01-10			2013-01-10			ENSG00000161681	ENSG00000161681	ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	15474	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	"""somatostatin receptor-interacting protein"""	604999	604999						10551867	10551867	Standard	Standard	NM_016148	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	uc002psx.1	Q9Y566	Q9Y566	OTTHUMG00000137380	OTTHUMG00000137380	ENST00000293441.1:c.169C>T	19.37:g.51220008G>A	ENSP00000293441:p.Leu57Phe		SHANK1_ENST00000359082.3_Missense_Mutation_p.L57F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L57F	p.L57F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	187	-		all_neural(266;0.057)	57		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.169C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048774	0.36181	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.40476	1.14;1.13;1.03	3.18	2.12	0.27331	3.18	2.12	0.27331	.	1.696560	0.05419	U	0.543844	T	0.25975	0.0633	N	0.08118	0	0.29684	N	0.841484	B	0.12630	0.006	B	0.08055	0.003	T	0.27536	-1.0071	10	0.54805	T	0.06	.	8.3835	0.32486	0.1257:0.0:0.8743:0.0	.	57	Q9Y566	SHAN1_HUMAN	F	57	ENSP00000293441:L57F;ENSP00000351984:L57F;ENSP00000375690:L57F	ENSP00000293441:L57F	L	-	1	0	0	SHANK1	55911820	55911820	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	3.299000	0.51826	0.461000	0.27071	0.282000	0.19409	CTC		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		1.201187	0	0	37	37	NM_016148		3	7.026769	7.026769	31	0.088235	0	0	0	1	0	3	31	0.088235
ABCB4	5244	ucsc.edu	37	7	87083881	87083881	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr7:87083881G>A	ENST00000265723.4	-	5	425	c.314C>T	c.(313-315)cCa>cTa	p.P105L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P105L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P105L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P105L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P105L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	105	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTTTGCCTGGATTTAGCAG	0.274																																																	0																	43.0	47.0	46.0					7																	87083881		2202	4296	6498	SO:0001583	missense	5244							M23234	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			2012-03-14			ENSG00000005471	ENSG00000005471	ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	"""ATP binding cassette transporters / subfamily B"""	45	45	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171060	171060		PGY3, MDR3		PGY3, MDR3		2892668, 11313316	2892668, 11313316	Standard	Standard	NM_018850	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	uc003uiv.1	P21439	P21439	OTTHUMG00000023396	OTTHUMG00000023396	ENST00000265723.4:c.314C>T	7.37:g.87083881G>A	ENSP00000265723:p.Pro105Leu																	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37		CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711792	0.48517	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.87103	-2.14;-2.21;-2.19;-2.21;-2.14	5.4	5.4	0.78164	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.465118	0.21477	N	0.073894	T	0.79610	0.4475	N	0.14661	0.345	0.58432	D	0.999997	B;P;B;B	0.35242	0.001;0.492;0.0;0.002	B;B;B;B	0.38225	0.01;0.268;0.003;0.012	T	0.77346	-0.2622	10	0.26408	T	0.33	-7.5299	16.2583	0.82528	0.0:0.0:1.0:0.0	.	105;105;105;105	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	L	105	ENSP00000352135:P105L;ENSP00000351172:P105L;ENSP00000265723:P105L;ENSP00000392983:P105L;ENSP00000437465:P105L	ENSP00000265723:P105L	P	-	2	0	0	ABCB4	86921817	86921817	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.407000	0.52644	2.699000	0.92147	0.555000	0.69702	CCA		0.274	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1			0	0	55	55	NM_000443		4			33							4	33	
EDEM2	55741	broad.mit.edu	37	20	33722607	33722607	+	Silent	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:33722607C>T	ENST00000374492.3	-	6	741	c.636G>A	c.(634-636)ccG>ccA	p.P212P	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Silent_p.P171P|EDEM2_ENST00000374491.3_Silent_p.P175P	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	212					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTCGAACACCGGGTCACCAG	0.582																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(511-513)ccG>ccA	ER degradation enhancer, mannosidase alpha-like 2						93.0	80.0	85.0					20																	33722607		2203	4300	6503	SO:0001819	synonymous_variant	55741			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722607C>T	AK001645	AK001645	CCDS13247.1, CCDS46592.1	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298	ENSG00000088298	ENSG00000088298				15877	15877	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610302	610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	15537790, 15579471	Standard	Standard	NM_018217	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	uc002xbo.2	Q9BV94	Q9BV94	OTTHUMG00000032322	OTTHUMG00000032322	ENST00000374492.3:c.636G>A	20.37:g.33722607C>T			EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.P212P|EDEM2_ENST00000374491.3_Silent_p.P175P|EDEM2_ENST00000541621.1_5'UTR	p.P171P			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1234	-			212		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.513G>A	CCDS13247.1																																																																																									0.582	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		-4.316697	0	0	66	66	NM_018217		3	6.627498	6.627498	50	0.056604	0	0	0	1	0	3	50	0.056604
PHF7	51533	broad.mit.edu	37	3	52442457	52442503	+	5'Flank	DEL	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	-	rs368029207		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr3:52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Splice_Site_p.FAHQV82fs|BAP1_ENST00000296288.5_Splice_Site_p.FAHQV82fs|PHF7_ENST00000347025.2_5'Flank	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)	p.F81L(1)|p.Q85*(1)		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)		GGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATT	0.502																																						ENST00000460680.1											2	Substitution - Nonsense(1)|Substitution - Missense(1)	eye(1)|lung(1)	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.(241-258)ttctttgcccaccaggtc>ttc	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	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:g.52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Splice_Site_p.FAHQV82fs	p.FAHQV82fs	NM_004656.2	NP_004647.1	Q99496	RING2_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	713_727	-			0	Interaction with HIP2.	K4DI82	Splice_Site	DEL	ENST00000327906.3		c.242_256delTCTTTGCCCACCAGGTCTGCTGGACTCTGTGCTTTGTTTGGAGGGTG	CCDS2854.1																																																																																									0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	5.720000e+00	4.700000e+00	0	0	12	12	NM_016483		1			0	1						1	0	1.0
