#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	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_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IGKV1D-42	28892	broad.mit.edu	37	2	90229249	90229249	+	RNA	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:90229249C>A	ENST00000390278.2	+	0	89									immunoglobulin kappa variable 1D-42 (non-functional)																		TCAGATTTGACATCCAGATGA	0.438																																						ENST00000390278.2																			0																				126.0	131.0	129.0					2																	90229249		1894	4119	6013			0							g.chr2:90229249C>A	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229249C>A														0	89	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.438	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		39	16	1	0	2.32173e-10	1	2.49696e-10	39	16				
RP11-423O2.5	0	broad.mit.edu	37	1	142803319	142803319	+	lincRNA	SNP	A	A	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:142803319A>C	ENST00000423385.1	-	0	1646																											GATGTAAAGCATACACACAAG	0.383																																						ENST00000423385.1																			0																																																			0							g.chr1:142803319A>C																													1.37:g.142803319A>C														0	1646	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.383	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	21	0	0	0	1	0	4	21				
FGA	2243	broad.mit.edu	37	4	155505566	155505566	+	Missense_Mutation	SNP	C	C	T	rs367614797		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr4:155505566C>T	ENST00000302053.3	-	6	2389	c.2311G>A	c.(2311-2313)Gta>Ata	p.V771I		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	771	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCTCTACGGAACCCTCA	0.532																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2311-2313)Gta>Ata		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	C	ILE/VAL	0,4406		0,0,2203	137.0	130.0	132.0		2311	0.6	0.0	4		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	FGA	NM_000508.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	771/867	155505566	1,13005	2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505566C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2311G>A	4.37:g.155505566C>T	ENSP00000306361:p.Val771Ile						p.V771I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2389	-	all_hematologic(180;0.215)	Renal(120;0.0458)	771			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2311G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	1.910	-0.450985	0.04572	0.0	1.16E-4	ENSG00000171560	ENST00000302053	D	0.96992	-4.2	5.7	0.586	0.17434	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	1.328090	0.05386	N	0.538166	D	0.90191	0.6934	N	0.22421	0.69	0.09310	N	0.999999	B	0.33238	0.403	B	0.26770	0.073	T	0.82997	-0.0179	10	0.37606	T	0.19	.	2.9852	0.05965	0.1093:0.338:0.3499:0.2029	.	771	P02671	FIBA_HUMAN	I	771	ENSP00000306361:V771I	ENSP00000306361:V771I	V	-	1	0	FGA	155725016	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.234000	0.17930	0.044000	0.15775	-0.142000	0.14014	GTA		0.532	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		5	202	0	0	0	1	0	5	202				
MT-CO1	4512	broad.mit.edu	37	M	2916	2916	+	5'Flank	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrM:2916G>A	ENST00000361624.2	+	0	0				MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TW_ENST00000387382.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AACTTGACCAACGGAACAAGT	0.478																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2916G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2916G>A	Exception_encountered							NR_039705.1						0	1246	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		5	211	0	0	0	1	0	5	211				
GPATCH1	55094	broad.mit.edu	37	19	33584366	33584366	+	Silent	SNP	C	C	T	rs139698891		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:33584366C>T	ENST00000170564.2	+	4	710	c.396C>T	c.(394-396)gcC>gcT	p.A132A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	132					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.A132A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCAGTTGGCCGCTGCTACTG	0.488																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			1	Substitution - coding silent(1)	p.A132A(1)	prostate(1)	breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(394-396)gcC>gcT		G patch domain containing 1		C		2,4404	4.2+/-10.8	0,2,2201	132.0	121.0	125.0		396	-3.0	0.8	19	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	GPATCH1	NM_018025.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		132/932	33584366	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33584366C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.396C>T	19.37:g.33584366C>T							p.A132A	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			4	710	+	Esophageal squamous(110;0.137)		132					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.396C>T	CCDS12428.1																																																																																				0.488	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		56	99	0	0	0	1	0	56	99				
SNTB1	6641	broad.mit.edu	37	8	121823678	121823678	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:121823678G>A	ENST00000395601.3	-	2	820	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|RP11-713M15.2_ENST00000605955.1_RNA	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	136	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.P136S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGAGGATGGGCATCTTGTTC	0.637																																						ENST00000395601.3																			1	Substitution - Missense(1)	p.P136S(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(406-408)Ccc>Tcc		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							68.0	69.0	69.0					8																	121823678		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823678G>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.406C>T	8.37:g.121823678G>A	ENSP00000378965:p.Pro136Ser					SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|SNTB1_ENST00000519177.1_5'UTR	p.P136S	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	820	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		136			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.406C>T	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937531	0.92458	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.52526	0.66;0.66	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71892	-0.4455	10	0.66056	D	0.02	.	17.2547	0.87052	0.0:0.0:1.0:0.0	.	136;136	Q13884;Q13884-2	SNTB1_HUMAN;.	S	136	ENSP00000378965:P136S;ENSP00000431124:P136S	ENSP00000378965:P136S	P	-	1	0	SNTB1	121892859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.580000	0.98207	2.213000	0.71641	0.511000	0.50034	CCC		0.637	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		4	69	0	0	0	1	0	4	69				
DUXAP8	503637	broad.mit.edu	37	22	16150968	16150968	+	RNA	SNP	C	C	T	rs539153730	byFrequency	TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr22:16150968C>T	ENST00000447898.1	-	0	1146																											CAAATTTGGACTCTTGACTCT	0.403													C|||	86	0.0171725	0.0408	0.013	5008	,	,		29717	0.001		0.008	False		,,,				2504	0.0143					ENST00000447898.1																			0																																																			0							g.chr22:16150968C>T																													22.37:g.16150968C>T														0	1146	-									RNA	SNP	ENST00000447898.1	37																																																																																						0.403	AP000525.9-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000276780.1			5	15	0	0	0	1	0	5	15				
TRBV5-1	28614	broad.mit.edu	37	7	142021350	142021350	+	RNA	SNP	C	C	T	rs184494606		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr7:142021350C>T	ENST00000390381.3	+	0	639									T cell receptor beta variable 5-1																		TTTATCTTTGCGCCAGCAGCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18097	0.0		0.001	False		,,,				2504	0.0					ENST00000390381.3																			0															C		0,3882		0,0,1941	54.0	56.0	55.0			0.4	1.0	7		55	4,8270		0,4,4133	no	intergenic				0,4,6074	TT,TC,CC		0.0483,0.0,0.0329			142021350	4,12152	1941	4137	6078			0							g.chr7:142021350C>T	L36092		7q34	2012-02-07			ENSG00000211734	ENSG00000211734		"""T cell receptors / TRB locus"""	12218	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV51, TCRBV5S1, TCRBV5S1A1T			OTTHUMG00000158520		7.37:g.142021350C>T														0	639	+									RNA	SNP	ENST00000390381.3	37																																																																																						0.547	TRBV5-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351226.1	NG_001333		20	49	0	0	0	1	0	20	49				
AKAP12	9590	broad.mit.edu	37	6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:151672372C>T	ENST00000253332.1	+	3	3035	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	AKAP12_ENST00000402676.2_Missense_Mutation_p.T949M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M|AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	949					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.T949M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			1	Substitution - Missense(1)	p.T949M(1)	prostate(1)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2845-2847)aCg>aTg		A kinase (PRKA) anchor protein 12							52.0	57.0	56.0					6																	151672372		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672372C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2846C>T	6.37:g.151672372C>T	ENSP00000253332:p.Thr949Met					AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M|AKAP12_ENST00000253332.1_Missense_Mutation_p.T949M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M	p.T949M	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3086	+		Ovarian(120;0.125)	949					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2846C>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421839	0.25639	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.87	-8.8	0.00817	.	4.262420	0.00541	N	0.000222	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	P;P;P	0.48640	0.91;0.91;0.913	B;B;B	0.36030	0.216;0.216;0.107	T	0.44298	-0.9337	10	0.49607	T	0.09	.	6.5044	0.22186	0.2242:0.4278:0.0:0.348	.	844;851;949	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	949;949;851;844	ENSP00000384537:T949M;ENSP00000253332:T949M;ENSP00000346702:T851M;ENSP00000352794:T844M	ENSP00000253332:T949M	T	+	2	0	AKAP12	151714065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.743000	0.01834	-1.639000	0.01527	-2.681000	0.00142	ACG		0.527	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	136	0	0	0	1	0	5	136				
CFAP43	80217	broad.mit.edu	37	10	105922136	105922136	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:105922136G>A	ENST00000357060.3	-	25	3387	c.3272C>T	c.(3271-3273)cCg>cTg	p.P1091L	WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L	NM_025145.5	NP_079421.5												p.P1091L(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTGCCACGGCTTAATGTG	0.403																																						ENST00000357060.3																			2	Substitution - Missense(2)	p.P1091L(2)	prostate(1)|breast(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3271-3273)cCg>cTg		WD repeat domain 96							168.0	136.0	147.0					10																	105922136		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105922136G>A																												ENST00000357060.3:c.3272C>T	10.37:g.105922136G>A	ENSP00000349568:p.Pro1091Leu					WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L	p.P1091L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			25	3387	-			1091						Missense_Mutation	SNP	ENST00000357060.3	37	c.3272C>T	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.167991|2.167991	0.38315|0.38315	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.18502|.	2.21;2.21|.	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	0.138776|.	0.48767|.	N|.	0.000166|.	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.79693|0.79693	2.465|2.465	0.19575|0.19575	N|N	0.999968|0.999968	P;D|.	0.56035|.	0.95;0.974|.	P;P|.	0.48982|.	0.597;0.543|.	T|T	0.53500|0.53500	-0.8430|-0.8430	10|5	0.23891|.	T|.	0.37|.	.|.	9.4421|9.4421	0.38675|0.38675	0.1037:0.0:0.8963:0.0|0.1037:0.0:0.8963:0.0	.|.	1092;1091|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	L|C	1091;1092|452	ENSP00000349568:P1091L;ENSP00000400289:P1092L|.	ENSP00000349568:P1091L|.	P|R	-|-	2|1	0|0	WDR96|WDR96	105912126|105912126	0.017000|0.017000	0.18338|0.18338	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	2.033000|2.033000	0.41136|0.41136	1.296000|1.296000	0.44742|0.44742	0.542000|0.542000	0.68232|0.68232	CCG|CGT		0.403	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	182	0	0	0	1	0	5	182				
KIFC2	90990	broad.mit.edu	37	8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:145693004C>G	ENST00000301332.2	+	5	983	c.606C>G	c.(604-606)atC>atG	p.I202M	CYHR1_ENST00000306145.5_5'Flank|KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000424149.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	202	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I202M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCAGCTCATCCTGGGACAGG	0.647											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301332.2																			1	Substitution - Missense(1)	p.I202M(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(604-606)atC>atG		kinesin family member C2							40.0	38.0	38.0					8																	145693004		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693004C>G	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.606C>G	8.37:g.145693004C>G	ENSP00000301332:p.Ile202Met		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	KIFC2_ENST00000301331.5_5'UTR	p.I202M	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		5	983	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		202			Gln-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.606C>G	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.565460|3.565460	0.65651|0.65651	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332|ENST00000528415	T|.	0.47177|.	0.85|.	4.68|4.68	0.24|0.24	0.15489|0.15489	.|.	0.000000|.	0.34700|.	N|.	0.003741|.	T|T	0.41373|0.41373	0.1156|0.1156	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.50617|.	0.937|.	P|.	0.46026|.	0.501|.	T|T	0.10268|0.10268	-1.0637|-1.0637	10|5	0.35671|.	T|.	0.21|.	-12.3743|-12.3743	7.7574|7.7574	0.28932|0.28932	0.0:0.5552:0.0:0.4448|0.0:0.5552:0.0:0.4448	.|.	202|.	Q96AC6|.	KIFC2_HUMAN|.	M|A	202|23	ENSP00000301332:I202M|.	ENSP00000301332:I202M|.	I|P	+|+	3|1	3|0	KIFC2|KIFC2	145663812|145663812	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.943000|0.943000	0.58893|0.58893	-0.708000|-0.708000	0.05035|0.05035	-0.070000|-0.070000	0.12908|0.12908	0.563000|0.563000	0.77884|0.77884	ATC|CCT		0.647	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		3	61	0	0	0	1	0	3	61				
ADCY9	115	broad.mit.edu	37	16	4016225	4016225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:4016225G>A	ENST00000294016.3	-	11	4151	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1205					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R1205C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTGGATGCGGCACTCCACG	0.597																																						ENST00000294016.3																			1	Substitution - Missense(1)	p.R1205C(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3613-3615)Cgc>Tgc		adenylate cyclase 9							153.0	133.0	139.0					16																	4016225		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016225G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3613C>T	16.37:g.4016225G>A	ENSP00000294016:p.Arg1205Cys						p.R1205C	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4151	-			1205					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3613C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813262	0.90707	.	.	ENSG00000162104	ENST00000294016	D	0.81821	-1.54	5.67	5.67	0.87782	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88933	0.3374	10	0.59425	D	0.04	.	20.1272	0.97986	0.0:0.0:1.0:0.0	.	1205	O60503	ADCY9_HUMAN	C	1205	ENSP00000294016:R1205C	ENSP00000294016:R1205C	R	-	1	0	ADCY9	3956226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.828000	0.97474	0.655000	0.94253	CGC		0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	176	0	0	0	1	0	7	176				
OR10A4	283297	broad.mit.edu	37	11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	rs199861369		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527																																						ENST00000379829.2																			2	Substitution - Missense(2)	p.A244T(2)	prostate(1)|lung(1)	kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(730-732)Gcc>Acc		olfactory receptor, family 10, subfamily A, member 4			THR/ALA	1,4401	2.1+/-5.4	0,1,2200	200.0	149.0	167.0		730	3.2	1.0	11		167	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A4	NM_207186.2	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	244/316	6898608	2,12992	2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898608G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.730G>A	11.37:g.6898608G>A	ENSP00000369157:p.Ala244Thr						p.A244T	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	753	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	244					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.730G>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025628	0.35701	2.27E-4	1.16E-4	ENSG00000170782	ENST00000379829	T	0.37235	1.21	4.32	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000447	T	0.33990	0.0882	L	0.59436	1.845	0.22601	N	0.998948	B	0.09022	0.002	B	0.17098	0.017	T	0.36578	-0.9742	10	0.87932	D	0	.	9.8659	0.41142	0.0:0.0:0.1728:0.8271	.	244	Q9H209	O10A4_HUMAN	T	244	ENSP00000369157:A244T	ENSP00000369157:A244T	A	+	1	0	OR10A4	6855184	0.615000	0.27026	1.000000	0.80357	0.964000	0.63967	0.780000	0.26760	0.982000	0.38575	-0.272000	0.10252	GCC		0.527	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		15	157	0	0	0	1	0	15	157				
NAV2	89797	broad.mit.edu	37	11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:20119232A>G	ENST00000396087.3	+	34	6398	c.6299A>G	c.(6298-6300)gAg>gGg	p.E2100G	NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000396085.1_Missense_Mutation_p.E2044G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2100					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.E2100G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACACCGGAGCTGCTTCCT	0.493																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.E2100G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6130-6132)gAg>gGg		neuron navigator 2							150.0	142.0	144.0					11																	20119232		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20119232A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6299A>G	11.37:g.20119232A>G	ENSP00000379396:p.Glu2100Gly					NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G	p.E2044G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6492	+			2100					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6131A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816237	0.90790	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.34472	1.36;1.47;1.46;1.5;1.39;1.39;2.99;2.99	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000002	T	0.63474	0.2514	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.65721	-0.6099	9	.	.	.	.	16.3053	0.82846	1.0:0.0:0.0:0.0	.	2044;1105;2041;1977	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	G	1977;2044;2041;2100;2029;2031;1105;1105	ENSP00000353871:E1977G;ENSP00000379394:E2044G;ENSP00000309577:E2041G;ENSP00000379396:E2100G;ENSP00000435395:E2029G;ENSP00000443489:E2031G;ENSP00000437316:E1105G;ENSP00000312169:E1105G	.	E	+	2	0	NAV2	20075808	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		8	135	0	0	0	1	0	8	135				
PTPRM	5797	broad.mit.edu	37	18	8113637	8113637	+	Silent	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr18:8113637C>A	ENST00000332175.8	+	12	3047	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L	PTPRM_ENST00000580170.1_Silent_p.L670L|PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000444013.1_Silent_p.L457L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L670L(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGACAGCCTCCAAGCTGCGC	0.423																																						ENST00000332175.8																			2	Substitution - coding silent(2)	p.L670L(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2008-2010)ctC>ctA		protein tyrosine phosphatase, receptor type, M							109.0	106.0	107.0					18																	8113637		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113637C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2010C>A	18.37:g.8113637C>A						PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000580170.1_Silent_p.L670L	p.L670L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			12	3047	+		Colorectal(10;0.234)	670			Fibronectin type-III 4.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2010C>A	CCDS11840.1																																																																																				0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			93	114	1	0	1.42479e-40	1	1.56178e-40	93	114				
FAM135B	51059	broad.mit.edu	37	8	139278045	139278045	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:139278045G>A	ENST00000395297.1	-	4	368	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	66								p.T66T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTGTGCACGGTGCTGTCAT	0.502										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - coding silent(2)	p.T66T(2)	prostate(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(196-198)acC>acT		family with sequence similarity 135, member B							78.0	79.0	79.0					8																	139278045		2003	4180	6183	SO:0001819	synonymous_variant	51059							g.chr8:139278045G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.198C>T	8.37:g.139278045G>A		HNSCC(54;0.14)					p.T66T	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	368	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		66					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.198C>T	CCDS6375.2																																																																																				0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	78	0	0	0	1	0	3	78				
AKNAD1	254268	broad.mit.edu	37	1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:109369914C>T	ENST00000370001.3	-	11	2117	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	617						cytoplasm (GO:0005737)		p.V617M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTTCTCCACGTTTTGCTTC	0.383																																						ENST00000370001.3																			1	Substitution - Missense(1)	p.V617M(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1849-1851)Gtg>Atg		AKNA domain containing 1							158.0	164.0	162.0					1																	109369914		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369914C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1849G>A	1.37:g.109369914C>T	ENSP00000359018:p.Val617Met					AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M	p.V617M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2117	-			617					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1849G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	0.985	-0.695692	0.03279	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.0	-1.74	0.08056	.	1.074910	0.07185	N	0.854653	T	0.01124	0.0037	N	0.04959	-0.14	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.06405	0.002;0.001	T	0.39981	-0.9587	10	0.02654	T	1	0.0207	0.2342	0.00184	0.2927:0.1744:0.1514:0.3814	.	324;617	B4DET8;Q5T1N1	.;AKND1_HUMAN	M	617;324;587;617	ENSP00000359018:V617M;ENSP00000349968:V324M;ENSP00000359011:V587M;ENSP00000359012:V617M	ENSP00000349968:V324M	V	-	1	0	AKNAD1	109171437	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-0.049000	0.11924	-0.390000	0.07774	-1.131000	0.01979	GTG		0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		21	230	0	0	0	1	0	21	230				
FCGR1A	2209	broad.mit.edu	37	1	149760144	149760144	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:149760144C>T	ENST00000369168.4	+	4	584	c.530C>T	c.(529-531)aCa>aTa	p.T177I	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	177	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCGCTACACATCAGCAGGA	0.413																																						ENST00000369168.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(529-531)aCa>aTa		Fc fragment of IgG, high affinity Ia, receptor (CD64)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						168.0	146.0	154.0					1																	149760144		2203	4300	6503	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149760144C>T	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.530C>T	1.37:g.149760144C>T	ENSP00000358165:p.Thr177Ile					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	p.T177I	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN			4	584	+	Breast(34;0.0124)|all_hematologic(923;0.127)		177			Ig-like C2-type 2.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.530C>T	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421028	0.62622	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.09255	3.0;3.0	4.0	-7.2	0.01495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.274590	0.05855	N	0.621967	T	0.03263	0.0095	L	0.61387	1.9	0.09310	N	1	B	0.22414	0.069	B	0.31390	0.129	T	0.44922	-0.9296	10	0.48119	T	0.1	.	1.9613	0.03387	0.4796:0.2337:0.1191:0.1676	.	177	P12314	FCGR1_HUMAN	I	85;177	ENSP00000394279:T85I;ENSP00000358165:T177I	ENSP00000358165:T177I	T	+	2	0	FCGR1A	148026768	0.000000	0.05858	0.000000	0.03702	0.650000	0.38633	-1.003000	0.03682	-1.618000	0.01568	0.514000	0.50259	ACA		0.413	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		5	198	0	0	0	1	0	5	198				
TMEM214	54867	broad.mit.edu	37	2	27258872	27258872	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:27258872G>A	ENST00000238788.9	+	5	734	c.672G>A	c.(670-672)caG>caA	p.Q224Q	TMEM214_ENST00000404032.3_Silent_p.Q179Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	224					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q224Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGTATCCAGGCCATCCTGC	0.517																																						ENST00000238788.9																			1	Substitution - coding silent(1)	p.Q224Q(1)	prostate(1)	kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(670-672)caG>caA		transmembrane protein 214							96.0	98.0	97.0					2																	27258872		2113	4240	6353	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258872G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.672G>A	2.37:g.27258872G>A						TMEM214_ENST00000404032.3_Silent_p.Q179Q	p.Q224Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			5	734	+			224					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.672G>A	CCDS42664.1																																																																																				0.517	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		18	44	0	0	0	1	0	18	44				
MLH3	27030	broad.mit.edu	37	14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:75515946G>C	ENST00000556740.1	-	1	448	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000355774.2_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	138					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.T138S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTGCTCTAGTCACATCAGC	0.428								Mismatch excision repair (MMR)																														ENST00000355774.2																			2	Substitution - Missense(2)	p.T138S(2)	prostate(2)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(412-414)aCt>aGt	Mismatch excision repair (MMR)	mutL homolog 3							107.0	104.0	105.0					14																	75515946		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515946G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.413C>G	14.37:g.75515946G>C	ENSP00000452316:p.Thr138Ser					MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S	p.T138S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	628	-			138					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.413C>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510466	0.12883	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.57	1.66	0.24008	ATPase-like, ATP-binding domain (3);	0.550760	0.19714	N	0.107756	T	0.71230	0.3315	N	0.05330	-0.07	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.17433	0.007;0.018	T	0.55515	-0.8129	10	0.15952	T	0.53	-3.9701	3.6194	0.08090	0.1398:0.4225:0.2623:0.1754	.	138;138	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	138	ENSP00000348020:T138S;ENSP00000238662:T138S;ENSP00000451540:T138S;ENSP00000452316:T138S;ENSP00000451192:T138S	ENSP00000238662:T138S	T	-	2	0	MLH3	74585699	0.900000	0.30661	0.973000	0.42090	0.760000	0.43138	0.680000	0.25306	0.290000	0.22444	-0.165000	0.13383	ACT		0.428	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		10	186	0	0	0	1	0	10	186				
GNB3	2784	broad.mit.edu	37	12	6950751	6950751	+	Splice_Site	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:6950751A>G	ENST00000229264.3	+	4	464	c.59A>G	c.(58-60)gAt>gGt	p.D20G	LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_Splice_Site_p.D20G|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	20					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.D20G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCCTGCAGGATGCCAGGAAA	0.667																																						ENST00000229264.3																			1	Substitution - Missense(1)	p.D20G(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.e4-1		guanine nucleotide binding protein (G protein), beta polypeptide 3							52.0	47.0	49.0					12																	6950751		2203	4300	6503	SO:0001630	splice_region_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6950751A>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.58-1A>G	12.37:g.6950751A>G						GNB3_ENST00000435982.2_Splice_Site_p.D20_splice	p.D20_splice	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			4	464	+			20					Q96B71|Q9BQC0	Splice_Site	SNP	ENST00000229264.3	37	c.57_splice	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307185	0.60305	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01323	5.01;5.01;5.01;5.01	4.22	4.22	0.49857	WD40 repeat-like-containing domain (1);	0.103999	0.64402	D	0.000004	T	0.02727	0.0082	L	0.53561	1.675	0.58432	D	0.999997	B;B	0.20052	0.041;0.041	B;B	0.32149	0.141;0.141	T	0.51044	-0.8755	10	0.41790	T	0.15	-10.3162	13.6229	0.62146	1.0:0.0:0.0:0.0	.	20;20	E9PCP0;P16520	.;GBB3_HUMAN	G	20	ENSP00000229264:D20G;ENSP00000442002:D20G;ENSP00000414734:D20G;ENSP00000445967:D20G	ENSP00000229264:D20G	D	+	2	0	GNB3	6821012	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.528000	0.81941	1.698000	0.51180	0.459000	0.35465	GAT		0.667	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	Missense_Mutation	12	28	0	0	0	1	0	12	28				
ALDH1A2	8854	broad.mit.edu	37	15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:58306075C>G	ENST00000249750.4	-	3	1111	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	115					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R115P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCTGTCCCGTTCCACCAA	0.458																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R115P(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(343-345)cGg>cCg		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						244.0	254.0	251.0					15																	58306075		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306075C>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.344G>C	15.37:g.58306075C>G	ENSP00000249750:p.Arg115Pro					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P	p.R115P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1111	-			115					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.344G>C	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016193	0.54468	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.16597	2.33;2.33;2.33	4.68	4.68	0.58851	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.97110	0.971;0.95;1.0;0.985	T	0.57201	-0.7852	10	0.87932	D	0	.	17.798	0.88579	0.0:1.0:0.0:0.0	.	86;94;115;115	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	P	115;19;86;115;94	ENSP00000249750:R115P;ENSP00000309623:R115P;ENSP00000438296:R94P	ENSP00000249750:R115P	R	-	2	0	ALDH1A2	56093367	1.000000	0.71417	0.984000	0.44739	0.008000	0.06430	7.320000	0.79064	2.423000	0.82170	0.650000	0.86243	CGG		0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			19	532	0	0	0	1	0	19	532				
KIF5B	3799	broad.mit.edu	37	10	32337438	32337438	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:32337438T>C	ENST00000302418.4	-	2	625	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T56T(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCTTGAGATGTGCTTGACT	0.338			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	1	Substitution - coding silent(1)	p.T56T(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(166-168)acA>acG		kinesin family member 5B							134.0	129.0	131.0					10																	32337438		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32337438T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.168A>G	10.37:g.32337438T>C							p.T56T	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			2	625	-		Prostate(175;0.0137)	56			Kinesin-motor.		A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.168A>G	CCDS7171.1																																																																																				0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		5	134	0	0	0	1	0	5	134				
PCK2	5106	broad.mit.edu	37	14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:24572967A>G	ENST00000216780.4	+	10	1985	c.1717A>G	c.(1717-1719)Att>Gtt	p.I573V	PCK2_ENST00000545054.2_Missense_Mutation_p.I439V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	573					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.I573V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGAGACACCCATTGGGCTGGT	0.607																																						ENST00000545054.2																			1	Substitution - Missense(1)	p.I573V(1)	prostate(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1315-1317)Att>Gtt		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							77.0	81.0	80.0					14																	24572967		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572967A>G	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1717A>G	14.37:g.24572967A>G	ENSP00000216780:p.Ile573Val					PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|NRL_ENST00000561028.1_Intron	p.I439V			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2233	+			573					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1315A>G	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181970	0.38511	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04862	3.54;3.54	5.69	4.4	0.53042	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.109638	0.64402	D	0.000005	T	0.08268	0.0206	M	0.62088	1.915	0.51482	D	0.999924	B;B	0.09022	0.002;0.001	B;B	0.15870	0.011;0.014	T	0.07046	-1.0793	10	0.54805	T	0.06	-14.6303	7.8426	0.29408	0.8757:0.0:0.1243:0.0	.	439;573	B4DW73;Q16822	.;PCKGM_HUMAN	V	573;439	ENSP00000216780:I573V;ENSP00000441826:I439V	ENSP00000216780:I573V	I	+	1	0	PCK2	23642807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.193000	0.58385	2.306000	0.77630	0.533000	0.62120	ATT		0.607	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		41	65	0	0	0	1	0	41	65				
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T	rs375831081		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:94420665C>T	ENST00000315988.4	-	2	820	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.R159Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18293	0.0		0.0	False		,,,				2504	0.0					ENST00000555019.1																			2	Substitution - Missense(2)	p.R111Q(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(475-477)cGa>cAa		ankyrin repeat and SOCS box containing 2		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	54.0	56.0		476,332	-5.7	0.4	14		56	0,8600		0,0,4300	no	missense,missense	ASB2	NM_001202429.1,NM_016150.4	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	159/636,111/588	94420665	1,13005	2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94420665C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.332G>A	14.37:g.94420665C>T	ENSP00000320675:p.Arg111Gln					ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q	p.R159Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	906	-		all_cancers(154;0.13)	111					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.476G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262405	0.23051	2.27E-4	0.0	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287	T;T;T;T;T	0.70986	2.41;2.41;0.67;-0.06;-0.53	5.54	-5.72	0.02406	Ankyrin repeat-containing domain (3);	0.749936	0.12469	N	0.466154	T	0.48892	0.1525	N	0.16708	0.43	0.09310	N	0.999998	B;B;B	0.12630	0.003;0.001;0.006	B;B;B	0.12156	0.003;0.001;0.007	T	0.34750	-0.9816	10	0.13470	T	0.59	-6.2996	15.9434	0.79776	0.0:0.2473:0.0:0.7527	.	127;159;111	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	Q	159;127;111;57;57;57;77	ENSP00000451575:R159Q;ENSP00000320675:R111Q;ENSP00000450940:R57Q;ENSP00000451694:R57Q;ENSP00000451654:R77Q	ENSP00000320675:R111Q	R	-	2	0	ASB2	93490418	0.000000	0.05858	0.390000	0.26220	0.108000	0.19459	-1.232000	0.02936	-1.072000	0.03141	-0.140000	0.14226	CGA		0.612	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			4	76	0	0	0	1	0	4	76				
SUSD1	64420	broad.mit.edu	37	9	114840901	114840901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr9:114840901C>T	ENST00000374270.3	-	12	1842	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R557H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTACCCGGACGTAGGTCCAA	0.493																																						ENST00000374270.3																		SUSD1/ROD1(2)	1	Substitution - Missense(1)	p.R557H(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1669-1671)cGt>cAt		sushi domain containing 1							149.0	143.0	145.0					9																	114840901		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840901C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1670G>A	9.37:g.114840901C>T	ENSP00000363388:p.Arg557His					SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H	p.R557H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			12	1842	-			557					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1670G>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	c	0.646	-0.811500	0.02798	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.29655	1.56;1.56;1.56	4.96	-5.42	0.02640	.	2.196340	0.01674	N	0.025758	T	0.10766	0.0263	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30268	-0.9984	10	0.13470	T	0.59	0.8854	12.3327	0.55049	0.0:0.606:0.0:0.394	.	557;557;557	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	H	557	ENSP00000363388:R557H;ENSP00000363381:R557H;ENSP00000363382:R557H	ENSP00000363381:R557H	R	-	2	0	SUSD1	113880722	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.501000	0.06398	-1.170000	0.02769	-1.065000	0.02276	CGT		0.493	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		13	122	0	0	0	1	0	13	122				
MAPRE1	22919	broad.mit.edu	37	20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:31427559C>G	ENST00000375571.5	+	5	633	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	165	Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S165*(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGCCCATCTCAACACAGAGA	0.527																																						ENST00000375571.5																			1	Substitution - Nonsense(1)	p.S165*(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(493-495)tCa>tGa		microtubule-associated protein, RP/EB family, member 1							179.0	202.0	194.0					20																	31427559		2203	4300	6503	SO:0001587	stop_gained	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31427559C>G	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.494C>G	20.37:g.31427559C>G	ENSP00000364721:p.Ser165*						p.S165*	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			5	633	+			165			Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Nonsense_Mutation	SNP	ENST00000375571.5	37	c.494C>G	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413519	0.96072	.	.	ENSG00000101367	ENST00000375571	.	.	.	5.11	4.15	0.48705	.	0.987994	0.08251	N	0.974523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	1.0E-4	8.5739	0.33587	0.0:0.7537:0.1587:0.0876	.	.	.	.	X	165	.	ENSP00000364721:S165X	S	+	2	0	MAPRE1	30891220	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	2.261000	0.43276	1.504000	0.48704	0.655000	0.94253	TCA		0.527	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		12	457	0	0	0	1	0	12	457				
CASP1	834	broad.mit.edu	37	11	104897573	104897573	+	Missense_Mutation	SNP	C	C	T	rs148018877		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:104897573C>T	ENST00000533400.1	-	8	1147	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H|CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	371					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.R371H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCTTACCTTGCGGAAAATTTC	0.408																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.R371H(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1111-1113)cGc>cAc		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403		0,1,2201	107.0	96.0	99.0		1049,1112,833,689,164	2.5	1.0	11	dbSNP_134	99	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	CASP1	NM_001223.3,NM_033292.2,NM_033293.2,NM_033294.2,NM_033295.2	29,29,29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	350/384,371/405,278/312,230/264,55/89	104897573	1,13001	2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897573C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1112G>A	11.37:g.104897573C>T	ENSP00000433138:p.Arg371His					CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H	p.R371H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	8	1147	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	371					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1112G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.296154	0.23650	2.27E-4	0.0	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	4.01;4.01;4.01;4.01;4.01;0.9;0.9;0.9;4.01;4.01;0.9;0.9	4.35	2.46	0.29980	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.368774	0.26979	N	0.021532	T	0.48892	0.1525	L	0.53561	1.675	0.37399	D	0.912756	B;B;D;D;D;D;D	0.64830	0.333;0.219;0.968;0.992;0.994;0.992;0.968	B;B;P;P;D;P;P	0.63597	0.061;0.034;0.598;0.806;0.916;0.806;0.616	T	0.51442	-0.8705	10	0.45353	T	0.12	.	3.9992	0.09572	0.1863:0.6134:0.0:0.2003	.	55;230;371;350;371;334;278	P29466-5;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	H	220;278;334;371;371;55;230;55;350;350;55;230	ENSP00000435536:R220H;ENSP00000434250:R278H;ENSP00000432340:R334H;ENSP00000433138:R371H;ENSP00000410076:R371H;ENSP00000408446:R55H;ENSP00000403260:R230H;ENSP00000344132:R55H;ENSP00000376844:R350H;ENSP00000434779:R350H;ENSP00000434303:R55H;ENSP00000436875:R230H	ENSP00000344132:R55H	R	-	2	0	CASP1	104402783	0.997000	0.39634	0.978000	0.43139	0.363000	0.29612	0.641000	0.24720	0.576000	0.29452	0.460000	0.39030	CGC		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		8	118	0	0	0	1	0	8	118				
PLCH2	9651	broad.mit.edu	37	1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:2415902G>A	ENST00000419816.2	+	5	935	c.661G>A	c.(661-663)Gac>Aac	p.D221N	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000449969.1_Missense_Mutation_p.D194N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	221	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D221N(1)|p.D68N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACACGGATGACCACCAAGG	0.597																																						ENST00000449969.1																			2	Substitution - Missense(2)	p.D221N(1)|p.D68N(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(580-582)Gac>Aac		phospholipase C, eta 2							53.0	63.0	60.0					1																	2415902		2087	4212	6299	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2415902G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.661G>A	1.37:g.2415902G>A	ENSP00000389803:p.Asp221Asn					PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron	p.D194N			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	5	741	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	221			EF-hand 1.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.580G>A		.	.	.	.	.	.	.	.	.	.	G	13.96	2.394111	0.42410	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.24538	1.94;1.92;1.85	3.69	3.69	0.42338	EF-hand-like domain (1);	0.174254	0.48767	D	0.000173	T	0.28764	0.0713	N	0.11427	0.14	0.80722	D	1	P;P;D;P	0.63046	0.771;0.768;0.992;0.771	P;B;D;P	0.64042	0.449;0.418;0.921;0.549	T	0.27606	-1.0069	10	0.51188	T	0.08	.	14.6111	0.68517	0.0:0.0:1.0:0.0	.	68;9;194;221	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	N	194;221;221;68;9	ENSP00000397289:D194N;ENSP00000367747:D221N;ENSP00000367749:D221N	ENSP00000278878:D9N	D	+	1	0	PLCH2	2405762	1.000000	0.71417	0.962000	0.40283	0.232000	0.25224	6.330000	0.72925	1.918000	0.55548	0.561000	0.74099	GAC		0.597	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		20	32	0	0	0	1	0	20	32				
GRM2	2912	broad.mit.edu	37	3	51746689	51746689	+	Silent	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:51746689C>T	ENST00000395052.3	+	3	885	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GRM2_ENST00000442933.2_Silent_p.G217G|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	217					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G217G(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGACTATGGCGAGACAGGCA	0.597																																						ENST00000395052.3																			2	Substitution - coding silent(2)	p.G217G(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(649-651)ggC>ggT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						100.0	91.0	94.0					3																	51746689		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746689C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.651C>T	3.37:g.51746689C>T						GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.G217G	p.G217G	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	885	+			217					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.651C>T	CCDS2834.1																																																																																				0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	122	0	0	0	1	0	5	122				
HDAC8	55869	broad.mit.edu	37	X	71787745	71787745	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:71787745G>C	ENST00000373573.3	-	4	772	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000439122.2_Missense_Mutation_p.A144G	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	144	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.A144G(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTACTTCTTTGCATGATGCCA	0.418																																						ENST00000439122.2																			1	Substitution - Missense(1)	p.A144G(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(430-432)gCa>gGa		histone deacetylase 8	Vorinostat(DB02546)						155.0	134.0	141.0					X																	71787745		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71787745G>C	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.431C>G	X.37:g.71787745G>C	ENSP00000362674:p.Ala144Gly					HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G	p.A144G	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			4	717	-	Renal(35;0.156)		144			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.431C>G	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850307	0.71719	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.98	4.98	0.66077	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.68728	2.09	0.80722	D	1	P;P	0.42248	0.601;0.774	B;B	0.43889	0.298;0.435	D	0.88156	0.2854	10	0.87932	D	0	-12.7565	15.1939	0.73071	0.0:0.0:1.0:0.0	.	144;144	B4DV22;Q9BY41	.;HDAC8_HUMAN	G	144;144;144;144;144;144;105;144;144	ENSP00000362674:A144G;ENSP00000396424:A144G;ENSP00000362672:A144G;ENSP00000414486:A144G;ENSP00000362661:A144G;ENSP00000362662:A144G;ENSP00000398997:A105G;ENSP00000362657:A144G;ENSP00000362655:A144G	ENSP00000362655:A144G	A	-	2	0	HDAC8	71704470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	2.395000	0.81488	0.544000	0.68410	GCA		0.418	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		11	122	0	0	0	1	0	11	122				
DMXL1	1657	broad.mit.edu	37	5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:118469852C>G	ENST00000311085.8	+	12	2313	c.2233C>G	c.(2233-2235)Ctt>Gtt	p.L745V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	745								p.L745V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTGCCCACTCTTATACCCAG	0.383																																						ENST00000311085.8																			1	Substitution - Missense(1)	p.L745V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2233-2235)Ctt>Gtt		Dmx-like 1							73.0	75.0	75.0					5																	118469852		2201	4285	6486	SO:0001583	missense	1657							g.chr5:118469852C>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2233C>G	5.37:g.118469852C>G	ENSP00000309690:p.Leu745Val					DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2313	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	745						Missense_Mutation	SNP	ENST00000311085.8	37	c.2233C>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956845	0.53293	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	.	0.053659	0.85682	D	0.000000	T	0.56016	0.1957	M	0.62088	1.915	0.50632	D	0.999885	D;D	0.61080	0.982;0.989	P;P	0.53518	0.728;0.666	T	0.53493	-0.8431	9	.	.	.	-15.5683	19.4667	0.94945	0.0:1.0:0.0:0.0	.	745;745	F5H269;Q9Y485	.;DMXL1_HUMAN	V	745	ENSP00000309690:L745V;ENSP00000439479:L745V	.	L	+	1	0	DMXL1	118497751	0.998000	0.40836	1.000000	0.80357	0.908000	0.53690	3.741000	0.55090	2.603000	0.88011	0.467000	0.42956	CTT		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		8	242	0	0	0	1	0	8	242				
CEACAM6	4680	broad.mit.edu	37	19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:42259586C>A	ENST00000199764.6	+	1	258	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	14					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P14T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATTGCATGTCCCCTGGAAGGA	0.607																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.P14T(1)	prostate(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(40-42)Ccc>Acc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							83.0	77.0	79.0					19																	42259586		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42259586C>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.40C>A	19.37:g.42259586C>A	ENSP00000199764:p.Pro14Thr					CEA_ENST00000598976.1_Intron	p.P14T	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	1	258	+			14					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.40C>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	3.808	-0.040367	0.07497	.	.	ENSG00000086548	ENST00000199764	T	0.19806	2.12	1.49	0.398	0.16319	.	.	.	.	.	T	0.18882	0.0453	M	0.68952	2.095	0.09310	N	1	B	0.27594	0.182	B	0.32022	0.139	T	0.36720	-0.9736	9	0.13853	T	0.58	.	3.7503	0.08563	0.0:0.7495:0.0:0.2505	.	14	P40199	CEAM6_HUMAN	T	14	ENSP00000199764:P14T	ENSP00000199764:P14T	P	+	1	0	CEACAM6	46951426	0.088000	0.21588	0.004000	0.12327	0.040000	0.13550	0.002000	0.13061	0.187000	0.20147	0.305000	0.20034	CCC		0.607	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			5	97	1	0	0.184627	1	0.184627	5	97				
IRAK2	3656	broad.mit.edu	37	3	10251301	10251301	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:10251301G>A	ENST00000256458.4	+	4	543	c.453G>A	c.(451-453)ccG>ccA	p.P151P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	151					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.P151P(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCACCAGCCGGCCTTTCTCC	0.597																																						ENST00000256458.4																			2	Substitution - coding silent(2)	p.P151P(2)	prostate(2)	breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(451-453)ccG>ccA		interleukin-1 receptor-associated kinase 2							146.0	157.0	154.0					3																	10251301		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10251301G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.453G>A	3.37:g.10251301G>A							p.P151P	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			4	543	+			151					B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.453G>A	CCDS33697.1																																																																																				0.597	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	275	0	0	0	1	0	7	275				
MT-ND4	4538	broad.mit.edu	37	M	11991	11991	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrM:11991T>C	ENST00000361381.2	+	1	1232	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	MT-TR_ENST00000387439.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	411					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTCTACATATTTACCACAAC	0.438																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1231-1233)tTt>tCt		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11991T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1232T>C	M.37:g.11991T>C	ENSP00000354961:p.Phe411Ser						p.411_411insS							1	1232	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1232T>C																																																																																					0.438	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		194	38	0	0	0	1	0	194	38				
ADAMTSL5	339366	broad.mit.edu	37	19	1507384	1507384	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:1507384G>A	ENST00000413997.2	-	9	738	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.R237C			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	247						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R237C(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACGTAGCGCCCATCGCCC	0.657																																						ENST00000330475.4																			1	Substitution - Missense(1)	p.R237C(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10						c.(709-711)Cgc>Tgc		ADAMTS-like 5							60.0	59.0	59.0					19																	1507384		2203	4300	6503	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1507384G>A	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.739C>T	19.37:g.1507384G>A	ENSP00000399364:p.Arg247Cys					ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.R247C|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C	p.R237C	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1152	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	237					B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.709C>T		.	.	.	.	.	.	.	.	.	.	G	15.17	2.753904	0.49362	.	.	ENSG00000185761	ENST00000413997;ENST00000330475;ENST00000395467	T;T;T	0.53640	0.61;0.61;0.61	4.67	3.58	0.41010	ADAM-TS Spacer 1 (1);	0.384627	0.28635	N	0.014651	T	0.60637	0.2284	M	0.81497	2.545	0.31443	N	0.67175	D;D	0.76494	0.999;0.999	P;P	0.57679	0.825;0.761	T	0.67189	-0.5733	10	0.62326	D	0.03	.	7.6231	0.28197	0.0:0.1824:0.6295:0.1881	.	247;237	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	C	247;237;6	ENSP00000399364:R247C;ENSP00000327608:R237C;ENSP00000378850:R6C	ENSP00000327608:R237C	R	-	1	0	ADAMTSL5	1458384	0.204000	0.23447	0.997000	0.53966	0.050000	0.14768	2.454000	0.44979	0.885000	0.36088	0.561000	0.74099	CGC		0.657	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		11	82	0	0	0	1	0	11	82				
SLC38A1	81539	broad.mit.edu	37	12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T	rs373500724		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289																																						ENST00000398637.5																			1	Substitution - Missense(1)	p.A317T(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(949-951)Gcc>Acc		solute carrier family 38, member 1							68.0	63.0	64.0					12																	46594935		1811	4076	5887	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594935C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.949G>A	12.37:g.46594935C>T	ENSP00000381634:p.Ala317Thr					SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR	p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1643	-	Lung SC(27;0.137)|Renal(347;0.236)		317					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.949G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949829	0.73787	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	5.53	3.61	0.41365	.	0.189006	0.36778	N	0.002415	T	0.02970	0.0088	N	0.25245	0.725	0.43642	D	0.996048	P;P;P	0.47762	0.9;0.87;0.784	P;P;B	0.44732	0.459;0.454;0.274	T	0.61287	-0.7093	10	0.38643	T	0.18	-16.7504	11.2565	0.49056	0.1286:0.8018:0.0:0.0696	.	317;317;317	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	T	317	ENSP00000449607:A317T;ENSP00000398142:A317T;ENSP00000381634:A317T;ENSP00000447853:A317T;ENSP00000449756:A317T	ENSP00000381634:A317T	A	-	1	0	SLC38A1	44881202	0.983000	0.35010	0.998000	0.56505	0.992000	0.81027	2.091000	0.41691	2.585000	0.87301	0.557000	0.71058	GCC		0.289	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			14	29	0	0	0	1	0	14	29				
KCNB2	9312	broad.mit.edu	37	8	73848458	73848458	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:73848458G>A	ENST00000523207.1	+	3	1456	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	290					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V290M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAACAAGAGCGTGCTGCAGTT	0.502																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.V290M(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(868-870)Gtg>Atg		potassium voltage-gated channel, Shab-related subfamily, member 2							98.0	96.0	96.0					8																	73848458		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848458G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.868G>A	8.37:g.73848458G>A	ENSP00000430846:p.Val290Met						p.V290M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1456	+	Breast(64;0.137)		290					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.868G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284625	0.95517	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	5.74	0.90152	Ion transport (1);	0.178608	0.26851	N	0.022168	D	0.97031	0.9030	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.52514	0.701	D	0.97601	1.0123	10	0.56958	D	0.05	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	290	Q92953	KCNB2_HUMAN	M	290	ENSP00000430846:V290M	ENSP00000430846:V290M	V	+	1	0	KCNB2	74011012	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	8.029000	0.88807	2.702000	0.92279	0.655000	0.94253	GTG		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	124	0	0	0	1	0	9	124				
ARIH1	25820	broad.mit.edu	37	15	72873082	72873082	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:72873082C>A	ENST00000379887.4	+	12	1540	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	409					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A409E(4)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CGATCTAGGGCAGCCCTGCAG	0.383																																						ENST00000379887.4																			4	Substitution - Missense(4)	p.A409E(4)	prostate(2)|kidney(2)	endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(1225-1227)gCa>gAa		ariadne RBR E3 ubiquitin protein ligase 1							57.0	49.0	52.0					15																	72873082		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72873082C>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1226C>A	15.37:g.72873082C>A	ENSP00000369217:p.Ala409Glu					ARIH1_ENST00000562891.1_3'UTR	p.A409E	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			12	1540	+			409					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1226C>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155042	0.78114	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.83673	-1.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	L	0.43701	1.375	0.80722	D	1	B	0.32467	0.372	B	0.23018	0.043	T	0.77225	-0.2666	10	0.54805	T	0.06	.	20.0756	0.97742	0.0:1.0:0.0:0.0	.	409	Q9Y4X5	ARI1_HUMAN	E	409;379	ENSP00000369217:A409E	ENSP00000299305:A379E	A	+	2	0	ARIH1	70660136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	2.763000	0.94921	0.650000	0.86243	GCA		0.383	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		8	66	1	0	0.0581538	1	0.0602684	8	66				
HSPA9	3313	broad.mit.edu	37	5	137893676	137893676	+	Splice_Site	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:137893676C>A	ENST00000297185.3	-	13	1641		c.e13-1		SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATTCCAATCTAAAATAAAT	0.388																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.e13-1		heat shock 70kDa protein 9 (mortalin)							46.0	49.0	48.0					5																	137893676		2203	4300	6503	SO:0001630	splice_region_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137893676C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1516-1G>T	5.37:g.137893676C>A						HSPA9_ENST00000501917.2_Intron		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	1641	-								B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Splice_Site	SNP	ENST00000297185.3	37		CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785257	0.70337	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0425	0.86493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA9	137921575	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.847000	0.75404	2.430000	0.82344	0.655000	0.94253	.		0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134	Intron	4	110	1	0	0.00909568	1	0.009601	4	110				
GRM1	2911	broad.mit.edu	37	6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:146480672C>T	ENST00000282753.1	+	2	1124	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CATGACAGTGCGAGGACTCCT	0.567																																						ENST00000392299.2																			3	Substitution - Nonsense(3)	p.R297*(3)	prostate(2)|breast(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(889-891)Cga>Tga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						85.0	80.0	82.0					6																	146480672		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480672C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.889C>T	6.37:g.146480672C>T	ENSP00000282753:p.Arg297*					GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*	p.R297*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1359	+		Ovarian(120;0.0387)	297					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.889C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608075	0.98387	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.32	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8156	0.52209	0.5982:0.4017:0.0:0.0	.	.	.	.	X	297	.	ENSP00000282753:R297X	R	+	1	2	GRM1	146522365	1.000000	0.71417	0.791000	0.31998	0.873000	0.50193	3.908000	0.56355	1.243000	0.43853	0.655000	0.94253	CGA		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	61	0	0	0	1	0	4	61				
COL7A1	1294	broad.mit.edu	37	3	48624753	48624753	+	Silent	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:48624753C>T	ENST00000328333.8	-	23	3116	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	COL7A1_ENST00000454817.1_Silent_p.P1003P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1003	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1003P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGTGTCTGCGGGGACCCAG	0.602																																						ENST00000328333.8																			1	Substitution - coding silent(1)	p.P1003P(1)	prostate(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3007-3009)ccG>ccA		collagen, type VII, alpha 1							32.0	31.0	31.0					3																	48624753		2199	4296	6495	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48624753C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3009G>A	3.37:g.48624753C>T						COL7A1_ENST00000454817.1_Silent_p.P1003P	p.P1003P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	3116	-			1003			Fibronectin type-III 9.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.3009G>A	CCDS2773.1																																																																																				0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	31	0	0	0	1	0	3	31				
IRF8	3394	broad.mit.edu	37	16	85936702	85936702	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:85936702T>C	ENST00000268638.5	+	2	503	c.81T>C	c.(79-81)atT>atC	p.I27I	IRF8_ENST00000563180.1_Silent_p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	27					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGACTGATTTGGGAGAATG	0.478																																						ENST00000268638.5																			1	Substitution - coding silent(1)	p.I27I(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(79-81)atT>atC		interferon regulatory factor 8							180.0	170.0	173.0					16																	85936702		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936702T>C	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.81T>C	16.37:g.85936702T>C						IRF8_ENST00000563180.1_Silent_p.I27I	p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			2	503	+		Prostate(104;0.0771)	27					A0AV82	Silent	SNP	ENST00000268638.5	37	c.81T>C	CCDS10956.1																																																																																				0.478	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		3	74	0	0	0	1	0	3	74				
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:26186960delT	ENST00000374298.3	-	0	0				AUNIP_ENST00000538789.1_5'Flank|RP1-125I3.2_ENST00000455431.1_RNA	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		2	4						2	4	---	---	---	---
RP11-423O2.5	0	broad.mit.edu	37	1	142804489	142804490	+	lincRNA	INS	-	-	TT			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:142804489_142804490insTT	ENST00000423385.1	-	0	475_476																											gattaggaagctttttttttta	0.342																																						ENST00000423385.1																			0																																																			0							g.chr1:142804489_142804490insTT																													1.37:g.142804498_142804499dupTT														0	475_476	-									RNA	INS	ENST00000423385.1	37																																																																																						0.342	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	3						3	3	---	---	---	---
MIR3681HG	100506457	broad.mit.edu	37	2	12607549	12607550	+	lincRNA	INS	-	-	CTTC	rs146884685|rs7571135|rs70955846		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:12607549_12607550insCTTC	ENST00000412294.1	+	0	412																											ttccttcctatcttccttcctt	0.465																																						ENST00000412294.1																			0																																																			0							g.chr2:12607549_12607550insCTTC																													2.37:g.12607554_12607557dupCTTC														0	412	+									RNA	INS	ENST00000412294.1	37																																																																																						0.465	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			3	3						3	3	---	---	---	---
CTD-2152M20.2	0	broad.mit.edu	37	5	32116038	32116039	+	RNA	INS	-	-	AC	rs10690015|rs201996710|rs112409527	byFrequency	TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:32116038_32116039insAC	ENST00000503441.1	-	0	167																											GGAAacacacaacacacacaca	0.436														2705	0.540136	0.5855	0.5504	5008	,	,		17426	0.5327		0.494	False		,,,				2504	0.5266					ENST00000503441.1																			0																																																			0							g.chr5:32116038_32116039insAC																													5.37:g.32116047_32116048dupAC														0	167	-									RNA	INS	ENST00000503441.1	37																																																																																						0.436	CTD-2152M20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000367747.1			3	3						3	3	---	---	---	---
LOC100128714	100128714	broad.mit.edu	37	15	26212944	26212945	+	lincRNA	DEL	TG	TG	-	rs371144086		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:26212944_26212945delTG	ENST00000383019.2	+	0	207					NR_040082.1																						tcagctaatttgtgtgtgtgtg	0.525																																						ENST00000383019.2																			0																																																			0							g.chr15:26212944_26212945delTG																													15.37:g.26212954_26212955delTG								NR_040082.1						0	207	+									RNA	DEL	ENST00000383019.2	37																																																																																						0.525	RP11-1084I9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414884.1			2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113740	26113740	+	lincRNA	DEL	T	T	-	rs201055352|rs138699846		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:26113740delT	ENST00000416563.1	-	0	160																											CCAGAAAAAATATGTGAGAGA	0.343																																						ENST00000416563.1																			0																																																			0							g.chr20:26113740delT																													20.37:g.26113740delT														0	160	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.343	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			6	4						6	4	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043145	73043145	+	lincRNA	DEL	T	T	-	rs375977945		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:73043145delT	ENST00000604411.1	+	0	31106				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		tttttctttcttttttttttt	0.348													|||unknown(HR)	989	0.261987	0.3207	0.2032	3775	,	,		11900	0.1071		0.1491	False		,,,				2504	0.1697					ENST00000604411.1																			0																				2.0	2.0	2.0					X																	73043145		660	1494	2154			0							g.chrX:73043145delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043145delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	31106	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.348	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	4						4	4	---	---	---	---
