#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
UBXN4	23190	broad.mit.edu	37	2	136511791	136511791	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:136511791A>C	ENST00000272638.9	+	4	588	c.277A>C	c.(277-279)Ata>Cta	p.I93L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	93					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTGGAAGTAATAGCAGGAAG	0.403																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(277-279)Ata>Cta		UBX domain protein 4							176.0	164.0	168.0					2																	136511791		1880	4129	6009	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136511791A>C	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.277A>C	2.37:g.136511791A>C	ENSP00000272638:p.Ile93Leu					UBXN4_ENST00000490163.1_3'UTR	p.I93L	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			4	588	+			93					A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.277A>C	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673784	0.67928	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.39592	1.07	5.71	5.71	0.89125	Thioredoxin-like fold (2);	0.044629	0.85682	D	0.000000	T	0.37839	0.1018	L	0.45698	1.435	0.58432	D	0.999997	B	0.15719	0.014	B	0.11329	0.006	T	0.13098	-1.0522	10	0.25751	T	0.34	.	14.9702	0.71229	1.0:0.0:0.0:0.0	.	93	Q92575	UBXN4_HUMAN	L	93	ENSP00000272638:I93L	ENSP00000272638:I93L	I	+	1	0	UBXN4	136228261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.310000	0.72830	2.165000	0.68154	0.455000	0.32223	ATA		0.403	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		41	105	0	0	0	0.131918	0	41	105				
RBM28	55131	broad.mit.edu	37	7	127964664	127964664	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:127964664C>T	ENST00000223073.2	-	12	1401	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	RBM28_ENST00000415472.2_Silent_p.T288T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	429					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCACCTTCGTCGTCTGAA	0.562																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1285-1287)acG>acA		RNA binding motif protein 28							164.0	163.0	164.0					7																	127964664		2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964664C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1287G>A	7.37:g.127964664C>T						RBM28_ENST00000415472.2_Silent_p.T288T	p.T429T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			12	1401	-			429					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.1287G>A	CCDS5801.1																																																																																				0.562	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		85	226	0	0	0	0.139131	0	85	226				
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	C	T	rs142287236	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr18:13826628C>T	ENST00000324750.3	+	1	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	288					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22740	0.0		0.0	False		,,,				2504	0.0					ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(862-864)tcC>tcT		melanocortin 5 receptor		C		9,4397	14.3+/-33.2	0,9,2194	176.0	160.0	166.0		864	-8.0	0.1	18	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	MC5R	NM_005913.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		288/326	13826628	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826628C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.864C>T	18.37:g.13826628C>T							p.S288S	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	1086	+			288					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.864C>T	CCDS11868.1																																																																																				0.463	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		45	125	0	0	0	0.139131	0	45	125				
LRIG2	9860	broad.mit.edu	37	1	113661909	113661909	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:113661909A>T	ENST00000361127.5	+	17	2933	c.2735A>T	c.(2734-2736)tAc>tTc	p.Y912F	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	912					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCCAACATCTACTCCAGGACC	0.423																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2734-2736)tAc>tTc		leucine-rich repeats and immunoglobulin-like domains 2							145.0	136.0	139.0					1																	113661909		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113661909A>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2735A>T	1.37:g.113661909A>T	ENSP00000355396:p.Tyr912Phe					LRIG2_ENST00000492207.1_3'UTR	p.Y912F	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	2933	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	912					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2735A>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142946	0.77888	.	.	ENSG00000198799	ENST00000361127	T	0.71817	-0.6	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.79693	2.465	0.51767	D	0.999933	P	0.36027	0.533	B	0.34722	0.188	T	0.63462	-0.6632	10	0.20046	T	0.44	.	15.3924	0.74755	1.0:0.0:0.0:0.0	.	912	O94898	LRIG2_HUMAN	F	912	ENSP00000355396:Y912F	ENSP00000355396:Y912F	Y	+	2	0	LRIG2	113463432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.662000	0.91130	2.090000	0.63153	0.533000	0.62120	TAC		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		13	112	0	0	0	0.105934	0	13	112				
MAML3	55534	broad.mit.edu	37	4	140811971	140811971	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr4:140811971G>A	ENST00000509479.2	-	2	1475	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.P51S	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ATGTTACTGGGCAAATTGTTG	0.488																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(619-621)Ccc>Tcc		mastermind-like 3 (Drosophila)							84.0	82.0	83.0					4																	140811971		2051	4201	6252	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811971G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.619C>T	4.37:g.140811971G>A	ENSP00000421180:p.Pro207Ser					MAML3_ENST00000327122.5_Missense_Mutation_p.P51S	p.P207S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	1475	-	all_hematologic(180;0.162)		207						Missense_Mutation	SNP	ENST00000509479.2	37	c.619C>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758456	0.31137	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.23552	1.9	5.05	5.05	0.67936	.	0.075962	0.52532	D	0.000069	T	0.22205	0.0535	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.06862	-1.0803	10	0.62326	D	0.03	.	7.8866	0.29653	0.0807:0.0:0.758:0.1613	.	207	Q96JK9	MAML3_HUMAN	S	207;51	ENSP00000421180:P207S	ENSP00000313316:P51S	P	-	1	0	MAML3	141031421	1.000000	0.71417	0.819000	0.32651	0.813000	0.45954	1.987000	0.40687	2.326000	0.78906	0.585000	0.79938	CCC		0.488	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	54	0	0	0	0.115264	0	3	54				
CORO1A	11151	broad.mit.edu	37	16	30198794	30198794	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:30198794G>A	ENST00000219150.5	+	6	1033	c.728G>A	c.(727-729)aGt>aAt	p.S243N	RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.S243N|RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.S243N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	243					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						AGCCGCATGAGTGAGCGGCAG	0.667																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(727-729)aGt>aAt		coronin, actin binding protein, 1A							26.0	27.0	26.0					16																	30198794		2196	4300	6496	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198794G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.728G>A	16.37:g.30198794G>A	ENSP00000219150:p.Ser243Asn					CORO1A_ENST00000565497.1_Missense_Mutation_p.S243N|CORO1A_ENST00000570045.1_Missense_Mutation_p.S243N	p.S243N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			6	1033	+			243					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.728G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.221562	0.79464	.	.	ENSG00000102879	ENST00000219150	T	0.63744	-0.06	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.79805	2.47	0.80722	D	1	P;P	0.42375	0.778;0.77	P;P	0.48815	0.558;0.591	T	0.72966	-0.4131	10	0.34782	T	0.22	-13.6238	18.0322	0.89288	0.0:0.0:1.0:0.0	.	299;243	Q59G88;P31146	.;COR1A_HUMAN	N	243	ENSP00000219150:S243N	ENSP00000219150:S243N	S	+	2	0	CORO1A	30106295	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.751000	0.98889	2.576000	0.86940	0.561000	0.74099	AGT		0.667	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		3	16	0	0	0	0.150653	0	3	16				
PAXBP1	94104	broad.mit.edu	37	21	34136826	34136826	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr21:34136826G>T	ENST00000331923.4	-	3	671	c.482C>A	c.(481-483)cCt>cAt	p.P161H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.P161H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	161					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTGTCCAAAGGTTGTTCACC	0.269																																						ENST00000331923.4																			0											c.(481-483)cCt>cAt		PAX3 and PAX7 binding protein 1							81.0	70.0	74.0					21																	34136826		2202	4300	6502	SO:0001583	missense	94104							g.chr21:34136826G>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.482C>A	21.37:g.34136826G>T	ENSP00000328992:p.Pro161His					PAXBP1_ENST00000290178.4_Missense_Mutation_p.P161H|PAXBP1_ENST00000472588.1_5'UTR	p.P161H	NM_016631.3	NP_057715.2					3	671	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.482C>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118117	0.37339	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.32272	1.89;1.46	5.55	5.55	0.83447	.	0.345278	0.34178	N	0.004184	T	0.25680	0.0625	N	0.24115	0.695	0.38460	D	0.947186	B;P	0.37864	0.429;0.61	B;B	0.42555	0.391;0.241	T	0.08207	-1.0733	10	0.33141	T	0.24	-6.7264	12.4621	0.55736	0.077:0.0:0.923:0.0	.	161;161	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	H	161	ENSP00000328992:P161H;ENSP00000290178:P161H	ENSP00000290178:P161H	P	-	2	0	GCFC1	33058697	0.900000	0.30661	0.983000	0.44433	0.995000	0.86356	3.802000	0.55553	2.619000	0.88677	0.655000	0.94253	CCT		0.269	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		22	36	1	0	5.45024e-15	0.083992	6.13869e-15	22	36				
FLT1	2321	broad.mit.edu	37	13	29001360	29001360	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr13:29001360C>T	ENST00000282397.4	-	10	1623	c.1372G>A	c.(1372-1374)Ggt>Agt	p.G458S	FLT1_ENST00000541932.1_Missense_Mutation_p.G458S|FLT1_ENST00000539099.1_Missense_Mutation_p.G458S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	458	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGGATACCATATGCGGTA	0.468																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1372-1374)Ggt>Agt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						175.0	153.0	160.0					13																	29001360		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001360C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1372G>A	13.37:g.29001360C>T	ENSP00000282397:p.Gly458Ser					FLT1_ENST00000539099.1_Missense_Mutation_p.G458S|FLT1_ENST00000541932.1_Missense_Mutation_p.G458S	p.G458S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	10	1623	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	458			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1372G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914818	0.72983	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.47177	0.85;0.85;1.15	5.9	5.9	0.94986	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67448	-0.5668	10	0.25751	T	0.34	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	458;458;458;458	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	S	458	ENSP00000282397:G458S;ENSP00000437631:G458S;ENSP00000442630:G458S	ENSP00000282397:G458S	G	-	1	0	FLT1	27899360	1.000000	0.71417	0.182000	0.23118	0.055000	0.15305	6.831000	0.75324	2.798000	0.96311	0.650000	0.86243	GGT		0.468	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			39	82	0	0	0	0.098360	0	39	82				
SCN11A	11280	broad.mit.edu	37	3	38950499	38950499	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:38950499C>G	ENST00000302328.3	-	9	1486	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.E430Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E430Q|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.E430Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	430					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTTTTCCTCCTTTAACAGC	0.537																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1288-1290)Gag>Cag		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						155.0	143.0	147.0					3																	38950499		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38950499C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1288G>C	3.37:g.38950499C>G	ENSP00000307599:p.Glu430Gln					SCN11A_ENST00000456224.3_Missense_Mutation_p.E430Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E430Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E430Q	p.E430Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	9	1486	-			430					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1288G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793235	0.31685	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.86;-3.79	5.02	0.919	0.19392	.	0.291871	0.35555	N	0.003138	D	0.89536	0.6743	L	0.39020	1.185	0.31439	N	0.67222	B	0.18741	0.03	B	0.16289	0.015	D	0.83888	0.0283	10	0.56958	D	0.05	.	4.0235	0.09677	0.0:0.3066:0.2072:0.4862	.	430	Q9UI33	SCNBA_HUMAN	Q	430	ENSP00000307599:E430Q;ENSP00000400945:E430Q;ENSP00000416757:E430Q;ENSP00000408028:E430Q	ENSP00000307599:E430Q	E	-	1	0	SCN11A	38925503	0.031000	0.19500	0.882000	0.34594	0.554000	0.35429	0.534000	0.23098	0.528000	0.28580	0.460000	0.39030	GAG		0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		3	126	0	0	0	0.115264	0	3	126				
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(808-810)Gag>Aag		Fli-1 proto-oncogene, ETS transcription factor							19.0	22.0	21.0					11																	128680431		2186	4293	6479	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680431G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys					FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000534087.1_Missense_Mutation_p.E270K	p.E270K			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1196	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	303					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.808G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		5	7	0	0	0	0.217242	0	5	7				
OR11H4	390442	broad.mit.edu	37	14	20711760	20711760	+	Silent	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:20711760A>T	ENST00000315409.2	+	1	863	c.810A>T	c.(808-810)gtA>gtT	p.V270V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TAATGTATGTAAGTCCTACAT	0.423																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(808-810)gtA>gtT		olfactory receptor, family 11, subfamily H, member 4							213.0	205.0	208.0					14																	20711760		2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711760A>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.810A>T	14.37:g.20711760A>T							p.V270V	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	863	+	all_cancers(95;0.000888)		270					B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.810A>T	CCDS32034.1																																																																																				0.423	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			50	196	0	0	0	0.139131	0	50	196				
RAI14	26064	broad.mit.edu	37	5	34757654	34757654	+	Missense_Mutation	SNP	G	G	C	rs202167881	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:34757654G>C	ENST00000265109.3	+	3	405	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	RAI14_ENST00000512629.1_Missense_Mutation_p.G40R|RAI14_ENST00000428746.2_Missense_Mutation_p.G40R|RAI14_ENST00000515799.1_Missense_Mutation_p.G43R|RAI14_ENST00000506376.1_Missense_Mutation_p.G32R|RAI14_ENST00000503673.1_Missense_Mutation_p.G40R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.G33R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	40						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCACTGCTCGGCAAGAAGGG	0.537																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(118-120)Ggc>Cgc		retinoic acid induced 14		G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	76.0		118,118,118,94,127,118	4.9	1.0	5		76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	125,125,125,125,125,125	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	40/981,40/981,40/952,32/973,43/984,40/981	34757654	1,13005	2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34757654G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.118G>C	5.37:g.34757654G>C	ENSP00000265109:p.Gly40Arg					RAI14_ENST00000428746.2_Missense_Mutation_p.G40R|RAI14_ENST00000397449.1_Missense_Mutation_p.G33R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.G32R|RAI14_ENST00000503673.1_Missense_Mutation_p.G40R|RAI14_ENST00000515799.1_Missense_Mutation_p.G43R|RAI14_ENST00000512629.1_Missense_Mutation_p.G40R	p.G40R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			3	405	+	all_lung(31;0.000191)		40					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.118G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458832	0.63401	2.27E-4	0.0	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;1.42;1.42;-0.54;-0.54;1.42;-0.54;1.42;1.42;1.42;0.67;1.42;1.25;-0.54;-0.54	5.72	4.86	0.63082	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74627	0.3741	N	0.25094	0.71	0.46701	D	0.999163	D;D;D;D	0.89917	1.0;1.0;0.994;0.984	D;D;P;D	0.81914	0.991;0.995;0.904;0.942	T	0.77629	-0.2516	9	0.56958	D	0.05	-15.1742	14.9437	0.71014	0.0685:0.0:0.9315:0.0	.	32;40;43;40	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	40;40;40;40;40;40;40;40;40;40;43;40;40;32;33	ENSP00000265109:G40R;ENSP00000424879:G40R;ENSP00000422112:G40R;ENSP00000422377:G40R;ENSP00000388725:G40R;ENSP00000421424:G40R;ENSP00000422942:G40R;ENSP00000422515:G40R;ENSP00000422114:G40R;ENSP00000424502:G40R;ENSP00000427123:G43R;ENSP00000426770:G40R;ENSP00000425115:G40R;ENSP00000423854:G32R;ENSP00000380591:G33R	ENSP00000265109:G40R	G	+	1	0	RAI14	34793411	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.254000	0.51477	1.441000	0.47550	-0.143000	0.13931	GGC		0.537	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		18	50	0	0	0	0.160694	0	18	50				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	71	0	0	0	0.115264	0	3	71				
DXO	1797	broad.mit.edu	37	6	31938839	31938839	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:31938839C>T	ENST00000375349.3	-	3	853	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000375356.3_Missense_Mutation_p.G148S|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.G148S			O77932	DXO_HUMAN	decapping exoribonuclease	148					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										AGCTGCCAGCCCTCCTGCCGC	0.647																																						ENST00000375349.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(442-444)Ggc>Agc									77.0	86.0	83.0					6																	31938839		1508	2708	4216	SO:0001583	missense	1797						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938839C>T	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.442G>A	6.37:g.31938839C>T	ENSP00000364498:p.Gly148Ser					DOM3Z_ENST00000375356.3_Missense_Mutation_p.G148S|DOM3Z_ENST00000337523.5_Missense_Mutation_p.G148S|DOM3Z_ENST00000478221.1_5'UTR	p.G148S			O77932	DOM3Z_HUMAN			3	853	-			148					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.442G>A	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172948	0.94807	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.20200	2.09;2.09;2.09	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63208	1.945	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.985	T	0.02484	-1.1152	10	0.18276	T	0.48	-20.3603	17.0168	0.86421	0.0:1.0:0.0:0.0	.	148;148	F8WC68;O77932	.;DOM3Z_HUMAN	S	148	ENSP00000337759:G148S;ENSP00000364498:G148S;ENSP00000364505:G148S	ENSP00000337759:G148S	G	-	1	0	DOM3Z	32046818	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	5.374000	0.66167	2.541000	0.85698	0.561000	0.74099	GGC		0.647	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			29	78	0	0	0	0.163468	0	29	78				
ZDHHC2	51201	broad.mit.edu	37	8	17067900	17067900	+	Silent	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:17067900A>G	ENST00000262096.8	+	10	1556	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	287					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATTCTAGTCTAGGTGATGGCT	0.413																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(859-861)ctA>ctG		zinc finger, DHHC-type containing 2							71.0	66.0	67.0					8																	17067900		1830	4096	5926	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17067900A>G	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.861A>G	8.37:g.17067900A>G							p.L287L	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	10	1556	+			287					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.861A>G	CCDS47810.1																																																																																				0.413	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		6	31	0	0	0	0.217242	0	6	31				
OR6F1	343169	broad.mit.edu	37	1	247875312	247875312	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:247875312A>G	ENST00000302084.2	-	1	793	c.746T>C	c.(745-747)cTc>cCc	p.L249P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATACCAAATGAGCACCACGGT	0.537																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(745-747)cTc>cCc		olfactory receptor, family 6, subfamily F, member 1							108.0	100.0	103.0					1																	247875312		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875312A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.746T>C	1.37:g.247875312A>G	ENSP00000305640:p.Leu249Pro					RP11-634B7.4_ENST00000449298.1_RNA	p.L249P	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	793	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		249					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.746T>C	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	7.483	0.649171	0.14516	.	.	ENSG00000169214	ENST00000302084	T	0.40476	1.03	3.72	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001398	T	0.51312	0.1667	M	0.64404	1.975	0.23920	N	0.996462	D	0.76494	0.999	D	0.69479	0.964	T	0.37820	-0.9689	10	0.66056	D	0.02	-41.0015	2.8629	0.05592	0.5634:0.2552:0.1814:0.0	.	249	Q8NGZ6	OR6F1_HUMAN	P	249	ENSP00000305640:L249P	ENSP00000305640:L249P	L	-	2	0	OR6F1	245941935	0.000000	0.05858	0.050000	0.19076	0.007000	0.05969	-0.343000	0.07791	1.672000	0.50884	0.482000	0.46254	CTC		0.537	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		42	83	0	0	0	0.104719	0	42	83				
SEC14L5	9717	broad.mit.edu	37	16	5040783	5040783	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:5040783G>A	ENST00000251170.7	+	5	541	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	121	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCTGAGAATGAAGACTGGAC	0.582																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(361-363)Gaa>Aaa		SEC14-like 5 (S. cerevisiae)							67.0	67.0	67.0					16																	5040783		1970	4169	6139	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5040783G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.361G>A	16.37:g.5040783G>A	ENSP00000251170:p.Glu121Lys						p.E121K	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			5	541	+			121			PRELI/MSF1.			Missense_Mutation	SNP	ENST00000251170.7	37	c.361G>A	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562982	0.86335	.	.	ENSG00000103184	ENST00000251170	T	0.17854	2.25	4.37	4.37	0.52481	PRELI/MSF1 (2);	0.092842	0.44688	D	0.000429	T	0.31888	0.0811	M	0.75447	2.3	0.80722	D	1	P	0.37276	0.589	P	0.46208	0.507	T	0.07809	-1.0753	10	0.33940	T	0.23	-17.5289	17.1014	0.86651	0.0:0.0:1.0:0.0	.	121	O43304	S14L5_HUMAN	K	121	ENSP00000251170:E121K	ENSP00000251170:E121K	E	+	1	0	SEC14L5	4980784	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.238000	0.78173	2.257000	0.74773	0.555000	0.69702	GAA		0.582	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			14	28	0	0	0	0.146539	0	14	28				
F9	2158	broad.mit.edu	37	X	138644198	138644198	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:138644198A>C	ENST00000218099.2	+	8	1361	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	F9_ENST00000394090.2_Missense_Mutation_p.N414H	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	452	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CCGGTATGTCAACTGGATTAA	0.373																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(1354-1356)Aac>Cac		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						60.0	60.0	60.0					X																	138644198		2202	4299	6501	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138644198A>C	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1354A>C	X.37:g.138644198A>C	ENSP00000218099:p.Asn452His					F9_ENST00000394090.2_Missense_Mutation_p.N414H	p.N452H	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	1361	+	Acute lymphoblastic leukemia(192;0.000127)		452			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1354A>C	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927729	0.34002	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93247	-3.19;-3.19	5.59	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.282916	0.43110	D	0.000615	D	0.88837	0.6545	L	0.43152	1.355	0.29461	N	0.857738	B;B	0.19817	0.039;0.02	B;B	0.24155	0.051;0.051	T	0.82112	-0.0618	10	0.52906	T	0.07	.	5.983	0.19417	0.7522:0.1644:0.0834:0.0	.	414;452	Q5FBE1;P00740	.;FA9_HUMAN	H	452;414	ENSP00000218099:N452H;ENSP00000377650:N414H	ENSP00000218099:N452H	N	+	1	0	F9	138471864	0.016000	0.18221	0.998000	0.56505	0.894000	0.52154	1.953000	0.40352	0.719000	0.32188	0.486000	0.48141	AAC		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			22	23	0	0	0	0.076483	0	22	23				
C12orf76	400073	broad.mit.edu	37	12	110511326	110511326	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:110511326C>T	ENST00000548191.1	-	0	165				C12orf76_ENST00000548936.1_5'UTR			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAAAACATCACTGCAGCTGCA	0.552																																						ENST00000548191.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6								chromosome 12 open reading frame 76																																						400073							g.chr12:110511326C>T	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315		12.37:g.110511326C>T						C12orf76_ENST00000548936.1_5'UTR				Q8N812	CL076_HUMAN			0	165	-									Translation_Start_Site	SNP	ENST00000548191.1	37																																																																																						0.552	C12orf76-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403445.1	NM_207435		6	10	0	0	0	0.029380	0	6	10				
PNMA1	9240	broad.mit.edu	37	14	74179538	74179538	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:74179538C>T	ENST00000316836.3	-	1	1590	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	269					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agcagaggctccagacgaatg	0.517																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(805-807)Gag>Aag		paraneoplastic Ma antigen 1							56.0	57.0	57.0					14																	74179538		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179538C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.805G>A	14.37:g.74179538C>T	ENSP00000318914:p.Glu269Lys						p.E269K	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1590	-			269					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.805G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110569	0.77210	.	.	ENSG00000176903	ENST00000316836	T	0.27104	1.69	4.48	4.48	0.54585	.	0.000000	0.47852	D	0.000212	T	0.47746	0.1462	M	0.79258	2.445	0.38916	D	0.957649	D	0.69078	0.997	P	0.61874	0.895	T	0.53823	-0.8384	10	0.87932	D	0	-7.283	12.9722	0.58520	0.0:1.0:0.0:0.0	.	269	Q8ND90	PNMA1_HUMAN	K	269	ENSP00000318914:E269K	ENSP00000318914:E269K	E	-	1	0	PNMA1	73249291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.984000	0.49353	2.779000	0.95612	0.655000	0.94253	GAG		0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		20	43	0	0	0	0.189662	0	20	43				
SLC12A2	6558	broad.mit.edu	37	5	127484471	127484471	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:127484471C>T	ENST00000262461.2	+	12	2096	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P636L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	636					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACATCTACCCAGCTTTCCAG	0.323																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1906-1908)cCa>cTa		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						157.0	157.0	157.0					5																	127484471		2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127484471C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1907C>T	5.37:g.127484471C>T	ENSP00000262461:p.Pro636Leu					SLC12A2_ENST00000343225.4_Missense_Mutation_p.P636L	p.P636L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	12	2096	+		all_cancers(142;0.0972)|Prostate(80;0.151)	636					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1907C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845458	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99709	-6.48;-6.48	4.95	4.95	0.65309	Amino acid permease domain (1);	0.055253	0.64402	D	0.000001	D	0.99840	0.9927	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96757	0.9558	10	0.87932	D	0	.	18.7266	0.91716	0.0:1.0:0.0:0.0	.	636;636	P55011-3;P55011	.;S12A2_HUMAN	L	636	ENSP00000262461:P636L;ENSP00000340878:P636L	ENSP00000262461:P636L	P	+	2	0	SLC12A2	127512370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.567000	0.45956	2.728000	0.93425	0.585000	0.79938	CCA		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		46	215	0	0	0	0.139131	0	46	215				
PCDHGA12	26025	broad.mit.edu	37	5	140811159	140811159	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:140811159G>T	ENST00000252085.3	+	1	975	c.833G>T	c.(832-834)aGg>aTg	p.R278M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAAGTGAGGTATTCCTTC	0.542																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(832-834)aGg>aTg									73.0	74.0	74.0					5																	140811159		2203	4300	6503	SO:0001583	missense	26025							g.chr5:140811159G>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.833G>T	5.37:g.140811159G>T	ENSP00000252085:p.Arg278Met					PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	p.R278M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	975	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.833G>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	5.279	0.236822	0.10023	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	4.84	-3.1	0.05315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38532	0.1044	L	0.47078	1.49	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.19666	0.009;0.026	T	0.40720	-0.9548	9	0.59425	D	0.04	.	2.3993	0.04397	0.2126:0.3835:0.2497:0.1542	.	278;278	O60330-2;O60330	.;PCDGC_HUMAN	M	278	ENSP00000252085:R278M	ENSP00000252085:R278M	R	+	2	0	PCDHGA12	140791343	0.000000	0.05858	0.945000	0.38365	0.390000	0.30446	-3.711000	0.00386	-0.453000	0.07076	-0.844000	0.03045	AGG		0.542	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		44	114	1	0	3.61848e-18	0.098360	4.20845e-18	44	114				
TJP1	7082	broad.mit.edu	37	15	30026551	30026551	+	Silent	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr15:30026551T>C	ENST00000346128.6	-	12	1917	c.1443A>G	c.(1441-1443)gaA>gaG	p.E481E	TJP1_ENST00000545208.2_Silent_p.E481E|TJP1_ENST00000356107.6_Silent_p.E481E|TJP1_ENST00000400011.2_Silent_p.E485E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	481	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGACGGCTTCTTCTCTTATGA	0.368																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1441-1443)gaA>gaG		tight junction protein 1							152.0	136.0	141.0					15																	30026551		1855	4090	5945	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30026551T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1443A>G	15.37:g.30026551T>C						TJP1_ENST00000400011.2_Silent_p.E485E|TJP1_ENST00000356107.6_Silent_p.E481E|TJP1_ENST00000545208.2_Silent_p.E481E	p.E481E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	12	1917	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	481			PDZ 3.		B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.1443A>G	CCDS42007.1																																																																																				0.368	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		10	147	0	0	0	0.069234	0	10	147				
SP140L	93349	broad.mit.edu	37	2	231193481	231193481	+	Missense_Mutation	SNP	C	C	G	rs375550624		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:231193481C>G	ENST00000415673.2	+	2	128	c.42C>G	c.(40-42)aaC>aaG	p.N14K	SP140_ENST00000486687.2_Intron|SP140L_ENST00000444636.1_Missense_Mutation_p.N14K|SP140L_ENST00000396563.4_Missense_Mutation_p.N14K|SP140L_ENST00000243810.6_Missense_Mutation_p.N14K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	14						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						gggggctgaacggaggtgttt	0.378																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(40-42)aaC>aaG		SP140 nuclear body protein-like							88.0	96.0	93.0					2																	231193481		2198	4300	6498	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231193481C>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.42C>G	2.37:g.231193481C>G	ENSP00000397911:p.Asn14Lys					SP140L_ENST00000444636.1_Missense_Mutation_p.N14K|SP140L_ENST00000415673.2_Missense_Mutation_p.N14K|SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.N14K	p.N14K			Q9H930	LY10L_HUMAN			2	42	+			14					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.42C>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	C	8.156	0.788429	0.16258	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.84730	-1.73;-1.36;-1.73;-1.89	2.07	-4.14	0.03892	.	.	.	.	.	T	0.76919	0.4055	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	D	0.74348	0.983	T	0.65393	-0.6179	9	0.12766	T	0.61	.	4.6131	0.12413	0.1492:0.4646:0.0:0.3862	.	14	Q9H930-4	.	K	14	ENSP00000395195:N14K;ENSP00000397911:N14K;ENSP00000243810:N14K;ENSP00000379811:N14K	ENSP00000243810:N14K	N	+	3	2	SP140L	230901725	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.125000	0.10579	-1.920000	0.01069	-0.830000	0.03078	AAC		0.378	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		11	32	0	0	0	0.069234	0	11	32				
HSPA12B	116835	broad.mit.edu	37	20	3728984	3728984	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr20:3728984C>A	ENST00000254963.2	+	8	941	c.796C>A	c.(796-798)Cca>Aca	p.P266T	HSPA12B_ENST00000542646.1_Missense_Mutation_p.P100T	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	266							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGGCCGGGCCCCAGGTGGTGG	0.701																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(796-798)Cca>Aca		heat shock 70kD protein 12B							26.0	27.0	27.0					20																	3728984		2202	4298	6500	SO:0001583	missense	116835						ATP binding	g.chr20:3728984C>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.796C>A	20.37:g.3728984C>A	ENSP00000254963:p.Pro266Thr					HSPA12B_ENST00000542646.1_Missense_Mutation_p.P100T	p.P266T	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			8	941	+			266					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.796C>A	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	8.791	0.930575	0.18131	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.40225	1.61;1.04;1.04	4.97	2.88	0.33553	.	0.329747	0.31335	N	0.007836	T	0.20981	0.0505	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15780	-1.0425	10	0.14656	T	0.56	.	7.7275	0.28767	0.1602:0.467:0.3728:0.0	.	265;266	B7ZLP2;Q96MM6	.;HS12B_HUMAN	T	266;100;180	ENSP00000254963:P266T;ENSP00000441506:P100T;ENSP00000382608:P180T	ENSP00000254963:P266T	P	+	1	0	HSPA12B	3676984	0.005000	0.15991	0.225000	0.23894	0.939000	0.58152	1.250000	0.32850	1.273000	0.44346	0.655000	0.94253	CCA		0.701	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		12	31	1	0	4.3838e-07	0.105934	4.73805e-07	12	31				
FAM196A	642938	broad.mit.edu	37	10	128974642	128974642	+	Silent	SNP	G	G	T	rs372783138		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr10:128974642G>T	ENST00000522781.1	-	4	573	c.18C>A	c.(16-18)acC>acA	p.T6T	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T6T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	6										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCATTTGCCGGTGTCCTTAC	0.537																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(16-18)acC>acA		family with sequence similarity 196, member A							72.0	75.0	74.0					10																	128974642		2192	4295	6487	SO:0001819	synonymous_variant	642938							g.chr10:128974642G>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.18C>A	10.37:g.128974642G>T						DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T6T	p.T6T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	573	-			6					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.18C>A	CCDS31312.1																																																																																				0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		26	113	1	0	2.79863e-10	0.099896	3.05565e-10	26	113				
ARHGEF17	9828	broad.mit.edu	37	11	73071410	73071410	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:73071410G>C	ENST00000263674.3	+	11	4602	c.4252G>C	c.(4252-4254)Gac>Cac	p.D1418H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1418					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CATGCACCGGGACCTGTCGGA	0.657																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4252-4254)Gac>Cac		Rho guanine nucleotide exchange factor (GEF) 17							93.0	102.0	99.0					11																	73071410		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071410G>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4252G>C	11.37:g.73071410G>C	ENSP00000263674:p.Asp1418His						p.D1418H	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4602	+			1418					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4252G>C	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331449	0.95733	.	.	ENSG00000110237	ENST00000263674	T	0.33216	1.42	5.81	5.81	0.92471	.	0.060338	0.64402	D	0.000001	T	0.46927	0.1418	L	0.36672	1.1	0.58432	D	0.999998	D	0.71674	0.998	D	0.65573	0.936	T	0.30880	-0.9963	10	0.54805	T	0.06	-28.0956	19.0707	0.93134	0.0:0.0:1.0:0.0	.	1418	Q96PE2	ARHGH_HUMAN	H	1418	ENSP00000263674:D1418H	ENSP00000263674:D1418H	D	+	1	0	ARHGEF17	72749058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.746000	0.94184	0.655000	0.94253	GAC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		18	104	0	0	0	0.175082	0	18	104				
HYDIN	54768	broad.mit.edu	37	16	70934968	70934968	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:70934968C>T	ENST00000393567.2	-	53	9137	c.8987G>A	c.(8986-8988)gGc>gAc	p.G2996D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2996					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGTGCAGGCCGTACTCAGC	0.557																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8986-8988)gGc>gAc		HYDIN, axonemal central pair apparatus protein							128.0	126.0	127.0					16																	70934968		1995	4165	6160	SO:0001583	missense	54768							g.chr16:70934968C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8987G>A	16.37:g.70934968C>T	ENSP00000377197:p.Gly2996Asp						p.G2996D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9137	-		Ovarian(137;0.0654)	2996					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.8987G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	1.563	-0.536073	0.04082	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00840	5.63	4.39	3.4	0.38934	.	0.260137	0.19092	U	0.122929	T	0.01092	0.0036	N	0.25647	0.755	0.80722	D	1	B	0.24483	0.104	B	0.33042	0.157	T	0.60250	-0.7300	10	0.12430	T	0.62	.	13.9676	0.64218	0.0:0.8463:0.1537:0.0	.	2995	F8WD23	.	D	2996;2995	ENSP00000377197:G2996D	ENSP00000313052:G2995D	G	-	2	0	HYDIN	69492469	0.015000	0.18098	0.037000	0.18230	0.092000	0.18411	0.111000	0.15458	0.923000	0.37045	0.195000	0.17529	GGC		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			39	122	0	0	0	0.124865	0	39	122				
TAC3	6866	broad.mit.edu	37	12	57409500	57409500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:57409500C>A	ENST00000458521.2	-	2	241	c.82G>T	c.(82-84)Gag>Tag	p.E28*	TAC3_ENST00000415231.1_Nonsense_Mutation_p.E28*|TAC3_ENST00000441881.1_Nonsense_Mutation_p.E28*	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	28					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCACCTCCTCCTGTGGCTCC	0.597																																						ENST00000458521.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(82-84)Gag>Tag		tachykinin 3							80.0	77.0	78.0					12																	57409500		2203	4300	6503	SO:0001587	stop_gained	6866				female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding	g.chr12:57409500C>A	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"""Endogenous ligands"""	11521	protein-coding gene	gene with protein product	"""preprotachykinin-B"""	162330	"""neuromedin K"", ""neurokinin beta"""	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.82G>T	12.37:g.57409500C>A	ENSP00000404056:p.Glu28*					TAC3_ENST00000441881.1_Nonsense_Mutation_p.E28*|TAC3_ENST00000415231.1_Nonsense_Mutation_p.E28*	p.E28*	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN			2	241	-			28					Q6IAG2|Q71BC6|Q71BC9	Nonsense_Mutation	SNP	ENST00000458521.2	37	c.82G>T	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377638	0.61735	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	.	.	.	5.66	3.75	0.43078	.	0.509864	0.19288	N	0.117976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-22.0006	7.4033	0.26977	0.0:0.7441:0.1674:0.0885	.	.	.	.	X	28	.	ENSP00000300108:E28X	E	-	1	0	TAC3	55695767	0.996000	0.38824	0.995000	0.50966	0.080000	0.17528	1.292000	0.33342	1.406000	0.46857	-0.253000	0.11424	GAG		0.597	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		31	83	1	0	5.60225e-13	0.144211	6.24417e-13	31	83				
DTX1	1840	broad.mit.edu	37	12	113496211	113496211	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:113496211T>C	ENST00000257600.3	+	1	717	c.214T>C	c.(214-216)Tac>Cac	p.Y72H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	72	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTGTGCCCTACATCATCGA	0.642																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(214-216)Tac>Cac		deltex homolog 1 (Drosophila)							125.0	116.0	119.0					12																	113496211		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496211T>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.214T>C	12.37:g.113496211T>C	ENSP00000257600:p.Tyr72His						p.Y72H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	717	+			72			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.214T>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495005	0.85069	.	.	ENSG00000135144	ENST00000257600	T	0.70282	-0.47	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	D	0.000003	D	0.84174	0.5414	M	0.85542	2.76	0.46849	D	0.999229	D	0.76494	0.999	D	0.87578	0.998	D	0.86687	0.1920	10	0.87932	D	0	-7.2888	12.1675	0.54138	0.0:0.0:0.0:1.0	.	72	Q86Y01	DTX1_HUMAN	H	72	ENSP00000257600:Y72H	ENSP00000257600:Y72H	Y	+	1	0	DTX1	111980594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.243000	0.78219	1.710000	0.51325	0.454000	0.30748	TAC		0.642	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	133	0	0	0	0.184627	0	3	133				
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gCg>gTg		olfactory receptor, family 2, subfamily Y, member 1							82.0	70.0	74.0					5																	180166493		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166493G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val						p.A189V	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	606	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	189					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.566C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG		0.507	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		4	112	0	0	0	0.184627	0	4	112				
CHTF18	63922	broad.mit.edu	37	16	840647	840647	+	Missense_Mutation	SNP	C	C	T	rs367945137		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:840647C>T	ENST00000262315.9	+	7	938	c.875C>T	c.(874-876)aCg>aTg	p.T292M	RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.T487M|CHTF18_ENST00000455171.2_Missense_Mutation_p.T320M|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	292					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CGCCACTACACGGAGCTGCTC	0.597																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(1459-1461)aCg>aTg		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)		C	MET/THR	0,4154		0,0,2077	32.0	39.0	37.0		875	1.4	0.9	16		37	2,8402		0,2,4200	no	missense	CHTF18	NM_022092.2	81	0,2,6277	TT,TC,CC		0.0238,0.0,0.0159	possibly-damaging	292/976	840647	2,12556	2077	4202	6279	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:840647C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.875C>T	16.37:g.840647C>T	ENSP00000262315:p.Thr292Met					CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000262315.9_Missense_Mutation_p.T292M|CHTF18_ENST00000455171.2_Missense_Mutation_p.T320M	p.T487M			Q8WVB6	CTF18_HUMAN			8	1460	+		Hepatocellular(780;0.00335)	292					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.1460C>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559848	0.45590	0.0	2.38E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.17528	2.27;2.27;2.27	5.2	1.44	0.22558	.	0.209027	0.48767	N	0.000176	T	0.12603	0.0306	L	0.46885	1.475	0.46954	D	0.999269	P;P	0.38767	0.639;0.646	B;B	0.35770	0.21;0.104	T	0.11817	-1.0572	10	0.26408	T	0.33	-8.9345	8.3898	0.32522	0.0:0.6766:0.1379:0.1855	.	320;292	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	M	487;320;292	ENSP00000313029:T487M;ENSP00000406252:T320M;ENSP00000262315:T292M	ENSP00000262315:T292M	T	+	2	0	CHTF18	780648	0.077000	0.21312	0.932000	0.37286	0.937000	0.57800	0.855000	0.27805	0.468000	0.27243	0.478000	0.44815	ACG		0.597	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		3	17	0	0	0	0.150653	0	3	17				
PI4KB	5298	broad.mit.edu	37	1	151288321	151288321	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:151288321C>T	ENST00000368873.1	-	2	805	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	PI4KB_ENST00000368872.1_Missense_Mutation_p.A213T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Missense_Mutation_p.A225T|PI4KB_ENST00000368874.4_Missense_Mutation_p.A213T|PI4KB_ENST00000271657.5_Missense_Mutation_p.A225T			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	213	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCAACAGGGCACACTGGAGG	0.507																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(673-675)Gcc>Acc		phosphatidylinositol 4-kinase, catalytic, beta							107.0	93.0	98.0					1																	151288321		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288321C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.637G>A	1.37:g.151288321C>T	ENSP00000357867:p.Ala213Thr					PI4KB_ENST00000271657.5_Missense_Mutation_p.A225T|PI4KB_ENST00000368873.1_Missense_Mutation_p.A213T|PI4KB_ENST00000368874.4_Missense_Mutation_p.A213T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.A213T	p.A225T	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1253	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		213					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.673G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.448425	0.84101	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	L	0.59436	1.845	0.80722	D	1	D;D;D	0.60575	0.988;0.973;0.967	P;P;P	0.60949	0.881;0.654;0.813	T	0.64521	-0.6388	10	0.23891	T	0.37	-16.9128	16.679	0.85287	0.0:1.0:0.0:0.0	.	213;213;213	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	T	213;225;225;213;213;213	ENSP00000357868:A213T;ENSP00000357869:A225T;ENSP00000271657:A225T;ENSP00000357867:A213T;ENSP00000357866:A213T;ENSP00000394719:A213T	ENSP00000271657:A225T	A	-	1	0	PI4KB	149554945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.556000	0.82233	2.504000	0.84457	0.561000	0.74099	GCC		0.507	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		21	47	0	0	0	0.076483	0	21	47				
POMT1	10585	broad.mit.edu	37	9	134385344	134385344	+	Silent	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:134385344C>G	ENST00000372228.3	+	8	839	c.660C>G	c.(658-660)gtC>gtG	p.V220V	POMT1_ENST00000404875.2_Silent_p.V103V|POMT1_ENST00000402686.3_Silent_p.V220V|POMT1_ENST00000419118.2_Silent_p.V68V|POMT1_ENST00000423007.1_Silent_p.V220V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.V190V|POMT1_ENST00000341012.7_Silent_p.V166V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	220					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCTGTCCATGCCTGGC	0.522																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(658-660)gtC>gtG		protein-O-mannosyltransferase 1							199.0	163.0	175.0					9																	134385344		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385344C>G	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.660C>G	9.37:g.134385344C>G						POMT1_ENST00000402686.3_Silent_p.V220V|POMT1_ENST00000354713.4_Silent_p.V190V|POMT1_ENST00000404875.2_Silent_p.V103V|POMT1_ENST00000341012.7_Silent_p.V166V|POMT1_ENST00000372228.3_Silent_p.V220V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Silent_p.V68V	p.V220V	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	8	1102	+		Myeloproliferative disorder(178;0.204)	220					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.660C>G	CCDS6943.1																																																																																				0.522	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		45	84	0	0	0	0.139131	0	45	84				
EFCAB6	64800	broad.mit.edu	37	22	43972202	43972202	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr22:43972202T>G	ENST00000262726.7	-	26	3648	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	EFCAB6_ENST00000396231.2_Missense_Mutation_p.Q980P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTAAAGTTCTGGAGAAAATA	0.313																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3394-3396)cAg>cCg		EF-hand calcium binding domain 6							42.0	48.0	46.0					22																	43972202		2203	4299	6502	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43972202T>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3395A>C	22.37:g.43972202T>G	ENSP00000262726:p.Gln1132Pro					EFCAB6_ENST00000396231.2_Missense_Mutation_p.Q980P	p.Q1132P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			26	3648	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1132					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3395A>C	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962798	0.53507	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08282	3.11;3.11	5.38	4.31	0.51392	EF-hand-like domain (1);	0.293833	0.31660	N	0.007273	T	0.11580	0.0282	L	0.55481	1.735	0.80722	D	1	P;P	0.52577	0.867;0.954	B;P	0.47470	0.439;0.548	T	0.02639	-1.1130	10	0.34782	T	0.22	-18.221	9.0223	0.36206	0.0:0.1377:0.0:0.8623	.	980;1132	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	P	980;1132	ENSP00000379533:Q980P;ENSP00000262726:Q1132P	ENSP00000262726:Q1132P	Q	-	2	0	EFCAB6	42303535	0.996000	0.38824	1.000000	0.80357	0.959000	0.62525	2.103000	0.41806	2.261000	0.74972	0.533000	0.62120	CAG		0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		19	50	0	0	0	0.076483	0	19	50				
TSTD2	158427	broad.mit.edu	37	9	100380108	100380108	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:100380108G>A	ENST00000341170.4	-	4	916	c.534C>T	c.(532-534)gaC>gaT	p.D178D	TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	178										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATCCTCCAGGTCATGGTAGC	0.498																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(532-534)gaC>gaT		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							145.0	117.0	126.0					9																	100380108		2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100380108G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.534C>T	9.37:g.100380108G>A						TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.D178D	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			4	916	-			178					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.534C>T	CCDS6727.2																																																																																				0.498	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		6	65	0	0	0	0.029380	0	6	65				
TMPRSS13	84000	broad.mit.edu	37	11	117789550	117789550	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:117789550C>T	ENST00000430170.2	-	2	112	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A9T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A9T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	9	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCATTCTGAAAG	0.602																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(25-27)Gca>Aca		transmembrane protease, serine 13							37.0	42.0	40.0					11																	117789550		1991	4168	6159	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789550C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.25G>A	11.37:g.117789550C>T	ENSP00000387702:p.Ala9Thr					TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A9T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A9T	p.A9T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	98	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	9			12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.25G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434259	0.83776	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88664	-2.38;-2.41;-2.41;-2.41;-2.32	4.15	3.22	0.36961	.	1.398810	0.05337	N	0.529490	D	0.82770	0.5109	N	0.08118	0	0.24134	N	0.995754	P;B	0.40180	0.705;0.419	B;B	0.44044	0.439;0.202	T	0.75082	-0.3443	10	0.62326	D	0.03	.	9.6131	0.39674	0.2068:0.7932:0.0:0.0	.	9;9	Q9BYE2-4;E9PRA0	.;.	T	9	ENSP00000435813:A9T;ENSP00000434279:A9T;ENSP00000387702:A9T;ENSP00000394114:A9T;ENSP00000436502:A9T	ENSP00000337113:A9T	A	-	1	0	TMPRSS13	117294760	0.440000	0.25618	0.927000	0.36925	0.424000	0.31475	1.473000	0.35387	1.312000	0.45043	0.643000	0.83706	GCA		0.602	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		3	40	0	0	0	0.115264	0	3	40				
SPATA31A6	389730	broad.mit.edu	37	9	43625455	43625455	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:43625455T>C	ENST00000332857.6	-	4	3260	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1078					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCACCAGTTTGCTCCTTCTG	0.532																																						ENST00000332857.6																			0											c.(3232-3234)Aaa>Gaa		SPATA31 subfamily A, member 6							14.0	12.0	12.0					9																	43625455		611	1516	2127	SO:0001583	missense	389730							g.chr9:43625455T>C		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3232A>G	9.37:g.43625455T>C	ENSP00000329825:p.Lys1078Glu						p.K1078E	NM_001145196.1	NP_001138668.1					4	3260	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3232A>G	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	6.551	0.469899	0.12461	.	.	ENSG00000185775	ENST00000332857	T	0.03663	3.85	2.44	-4.12	0.03916	.	1.054440	0.07426	N	0.894836	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48210	-0.9055	10	0.20046	T	0.44	.	0.3554	0.00356	0.1927:0.2657:0.1966:0.3449	.	1078	Q5VVP1	F75A6_HUMAN	E	1078	ENSP00000329825:K1078E	ENSP00000329825:K1078E	K	-	1	0	FAM75A6	43565451	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.376000	0.07465	-0.915000	0.03823	-0.994000	0.02522	AAA		0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		46	284	0	0	0	0.139131	0	46	284				
NUP153	9972	broad.mit.edu	37	6	17706532	17706532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:17706532G>C	ENST00000262077.2	-	1	86	c.87C>G	c.(85-87)taC>taG	p.Y29*	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Nonsense_Mutation_p.Y29*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCCCCTGCTGGTAAGGCTTAA	0.721																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(85-87)taC>taG		nucleoporin 153kDa							71.0	60.0	64.0					6																	17706532		2202	4299	6501	SO:0001587	stop_gained	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17706532G>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.87C>G	6.37:g.17706532G>C	ENSP00000262077:p.Tyr29*					NUP153_ENST00000537253.1_Nonsense_Mutation_p.Y29*|RP11-500C11.3_ENST00000606771.1_RNA	p.Y29*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		1	86	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	29					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	ENST00000262077.2	37	c.87C>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	37	6.258774	0.97421	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	4.33	4.33	0.51752	.	0.000000	0.31784	N	0.007065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3116	12.6322	0.56663	0.0:0.0:1.0:0.0	.	.	.	.	X	29;51;29	.	ENSP00000262077:Y29X	Y	-	3	2	NUP153	17814511	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.614000	0.36911	2.697000	0.92050	0.591000	0.81541	TAC		0.721	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			13	24	0	0	0	0.132662	0	13	24				
HMMR	3161	broad.mit.edu	37	5	162910059	162910059	+	Silent	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:162910059A>G	ENST00000358715.3	+	14	1599	c.1563A>G	c.(1561-1563)ctA>ctG	p.L521L	HMMR_ENST00000432118.2_Silent_p.L435L|HMMR_ENST00000353866.3_Silent_p.L506L|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Silent_p.L522L|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	521					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AGTCAGCACTAAAGGAAACAG	0.343																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1219-1221)ctA>ctG		hyaluronan-mediated motility receptor (RHAMM)							65.0	73.0	71.0					5																	162910059		2202	4296	6498	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162910059A>G	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1563A>G	5.37:g.162910059A>G						HMMR_ENST00000358715.3_Silent_p.L521L|HMMR_ENST00000393915.4_Silent_p.L522L|HMMR_ENST00000432118.2_Silent_p.L435L|HMMR_ENST00000353866.3_Silent_p.L506L	p.L407L			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	14	1718	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	521					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.1221A>G	CCDS4362.1																																																																																				0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		33	134	0	0	0	0.163468	0	33	134				
QRICH2	84074	broad.mit.edu	37	17	74278089	74278089	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr17:74278089G>A	ENST00000262765.5	-	8	3800	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1207										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTCAGGGTCGATCTGGCCAG	0.612																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3619-3621)atC>atT		glutamine rich 2							61.0	56.0	58.0					17																	74278089		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74278089G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3621C>T	17.37:g.74278089G>A							p.I1207I	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			8	3800	-			1207					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.3621C>T	CCDS32741.1																																																																																				0.612	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		4	29	0	0	0	0.150653	0	4	29				
ALG13	79868	broad.mit.edu	37	X	110996020	110996020	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:110996020A>G	ENST00000394780.3	+	25	2947	c.2935A>G	c.(2935-2937)Aca>Gca	p.T979A	ALG13_ENST00000251943.4_Missense_Mutation_p.T796A|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	979					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.T796S(1)|p.T301S(1)|p.T979S(1)		endometrium(2)|lung(10)|skin(1)	13						AATTTTAGATACAAAAGTTTT	0.323																																						ENST00000394780.3																			3	Substitution - Missense(3)	p.T796S(1)|p.T301S(1)|p.T979S(1)	lung(3)	endometrium(2)|lung(10)|skin(1)	13						c.(2935-2937)Aca>Gca		ALG13, UDP-N-acetylglucosaminyltransferase subunit							66.0	54.0	58.0					X																	110996020		1568	3580	5148	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110996020A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2935A>G	X.37:g.110996020A>G	ENSP00000378260:p.Thr979Ala					ALG13_ENST00000251943.4_Missense_Mutation_p.T796A|ALG13_ENST00000470971.1_3'UTR	p.T979A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			25	2947	+			979					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2935A>G	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287032	0.40494	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.56611	1.35;0.45	5.34	4.17	0.49024	.	0.137716	0.48767	D	0.000168	T	0.46964	0.1420	L	0.59436	1.845	0.26859	N	0.968008	B;B;B	0.30914	0.3;0.022;0.167	B;B;B	0.35182	0.197;0.018;0.124	T	0.38672	-0.9650	10	0.29301	T	0.29	-3.0478	7.07	0.25173	0.7751:0.1451:0.0798:0.0	.	901;979;796	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	A	796;979;533	ENSP00000251943:T796A;ENSP00000378260:T979A	ENSP00000251943:T796A	T	+	1	0	ALG13	110882676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.199000	0.42715	0.765000	0.33221	0.441000	0.28932	ACA		0.323	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		9	9	0	0	0	0.047766	0	9	9				
ZNF563	147837	broad.mit.edu	37	19	12429410	12429410	+	Nonstop_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:12429410A>C	ENST00000293725.5	-	4	1634	c.1429T>G	c.(1429-1431)Tga>Gga	p.*477G		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTACATTCATATTGTTTCT	0.363																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1429-1431)Tga>Gga		zinc finger protein 563							69.0	69.0	69.0					19																	12429410		2203	4300	6503	SO:0001578	stop_lost	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429410A>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1429T>G	19.37:g.12429410A>C	ENSP00000293725:p.*477Argext*2						p.*477G	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1634	-			0					B2R9E7|Q8NAT7	Nonstop_Mutation	SNP	ENST00000293725.5	37	c.1429T>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	A	1.434	-0.569522	0.03910	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2517	0.10698	0.78:0.0:0.22:0.0	.	.	.	.	G	477	.	.	X	-	1	0	ZNF563	12290410	0.000000	0.05858	0.107000	0.21349	0.333000	0.28666	0.046000	0.14035	0.699000	0.31761	0.260000	0.18958	TGA		0.363	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		37	51	0	0	0	0.214465	0	37	51				
SNHG14	104472715	broad.mit.edu	37	15	25332980	25332980	+	RNA	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr15:25332980A>G	ENST00000546682.1	+	0	586				SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCGTCTGTTCAGGCTTAGAAT	0.498																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25332980A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332980A>G						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.498	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			3	59	0	0	0	0.115264	0	3	59				
AHNAK	79026	broad.mit.edu	37	11	62291579	62291579	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:62291579C>G	ENST00000378024.4	-	5	10584	c.10310G>C	c.(10309-10311)gGt>gCt	p.G3437A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3437					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAATTGGGACCTGCAATATC	0.418																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10309-10311)gGt>gCt		AHNAK nucleoprotein							69.0	71.0	71.0					11																	62291579		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291579C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10310G>C	11.37:g.62291579C>G	ENSP00000367263:p.Gly3437Ala					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G3437A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10584	-		Melanoma(852;0.155)	3437					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10310G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.482301	0.01027	.	.	ENSG00000124942	ENST00000378024	T	0.01516	4.81	4.33	-8.66	0.00866	.	.	.	.	.	T	0.00875	0.0029	N	0.05383	-0.06	0.09310	N	1	B	0.25904	0.137	B	0.24541	0.054	T	0.50676	-0.8800	9	0.08599	T	0.76	.	11.0631	0.47959	0.5936:0.2463:0.1602:0.0	.	3437	Q09666	AHNK_HUMAN	A	3437	ENSP00000367263:G3437A	ENSP00000367263:G3437A	G	-	2	0	AHNAK	62048155	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-3.866000	0.00347	-1.173000	0.02758	0.282000	0.19409	GGT		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		20	71	0	0	0	0.189662	0	20	71				
XPO7	23039	broad.mit.edu	37	8	21844736	21844736	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:21844736T>G	ENST00000252512.9	+	14	1762	c.1662T>G	c.(1660-1662)ttT>ttG	p.F554L	XPO7_ENST00000433566.4_Missense_Mutation_p.F555L|XPO7_ENST00000434536.1_Missense_Mutation_p.F563L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	554					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAGCTTTTTTGAACAGTTTC	0.493																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1687-1689)ttT>ttG		exportin 7							127.0	127.0	127.0					8																	21844736		1913	4118	6031	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21844736T>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1662T>G	8.37:g.21844736T>G	ENSP00000252512:p.Phe554Leu					XPO7_ENST00000433566.4_Missense_Mutation_p.F555L|XPO7_ENST00000252512.9_Missense_Mutation_p.F554L	p.F563L			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	14	1791	+			554					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1689T>G	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	6.142	0.394451	0.11638	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.57273	0.41;0.41;0.41	5.78	3.46	0.39613	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.39467	1.215	0.58432	D	0.999995	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.007	T	0.16394	-1.0404	10	0.02654	T	1	-14.6701	9.3589	0.38184	0.0:0.1447:0.0:0.8553	.	555;563;554	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	L	563;554;555	ENSP00000404853:F563L;ENSP00000252512:F554L;ENSP00000410249:F555L	ENSP00000252512:F554L	F	+	3	2	XPO7	21900682	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.532000	0.23067	1.030000	0.39839	0.533000	0.62120	TTT		0.493	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		39	79	0	0	0	0.098360	0	39	79				
HCFC1	3054	broad.mit.edu	37	X	153223256	153223256	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:153223256C>G	ENST00000310441.7	-	12	3076	c.2110G>C	c.(2110-2112)Ggt>Cgt	p.G704R	HCFC1_ENST00000369984.4_Missense_Mutation_p.G704R|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.G635R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	704	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACAGGACCCGTGGACGCC	0.552																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2110-2112)Ggt>Cgt		host cell factor C1 (VP16-accessory protein)							83.0	86.0	85.0					X																	153223256		2006	4152	6158	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223256C>G		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2110G>C	X.37:g.153223256C>G	ENSP00000309555:p.Gly704Arg					HCFC1_ENST00000369984.4_Missense_Mutation_p.G704R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G635R	p.G704R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			12	3076	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		704			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2110G>C	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131808	0.77662	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.0;4.01;4.0	5.24	5.24	0.73138	.	0.102224	0.64402	D	0.000003	T	0.04907	0.0132	N	0.14661	0.345	0.40612	D	0.981681	P	0.50943	0.94	P	0.47915	0.561	T	0.52132	-0.8616	10	0.62326	D	0.03	.	16.5893	0.84761	0.0:1.0:0.0:0.0	.	704	P51610	HCFC1_HUMAN	R	704;704;635	ENSP00000309555:G704R;ENSP00000359001:G704R;ENSP00000346174:G635R	ENSP00000309555:G704R	G	-	1	0	HCFC1	152876450	1.000000	0.71417	0.803000	0.32268	0.950000	0.60333	5.513000	0.67037	2.174000	0.68829	0.600000	0.82982	GGT		0.552	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		25	18	0	0	0	0.108266	0	25	18				
ZNF202	7753	broad.mit.edu	37	11	123597460	123597460	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:123597460C>T	ENST00000529691.1	-	7	1411	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	ZNF202_ENST00000336139.4_Missense_Mutation_p.D398N|ZNF202_ENST00000530393.1_Missense_Mutation_p.D398N			O95125	ZN202_HUMAN	zinc finger protein 202	398					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACAGAACAGTCATGATGCCTC	0.433																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1192-1194)Gac>Aac		zinc finger protein 202							109.0	109.0	109.0					11																	123597460		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597460C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1192G>A	11.37:g.123597460C>T	ENSP00000433881:p.Asp398Asn					ZNF202_ENST00000530393.1_Missense_Mutation_p.D398N|ZNF202_ENST00000529691.1_Missense_Mutation_p.D398N	p.D398N			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1554	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	398					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1192G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.578024	0.13686	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.07327	3.2;3.2;3.2	4.32	-0.0439	0.13857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.844596	0.10302	N	0.691002	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42275	-0.9461	10	0.41790	T	0.15	-1.6556	5.7518	0.18150	0.0:0.5179:0.3013:0.1809	.	398	O95125	ZN202_HUMAN	N	398	ENSP00000337724:D398N;ENSP00000432504:D398N;ENSP00000433881:D398N	ENSP00000337724:D398N	D	-	1	0	ZNF202	123102670	0.000000	0.05858	0.325000	0.25375	0.946000	0.59487	-2.293000	0.01145	-0.083000	0.12618	0.655000	0.94253	GAC		0.433	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		43	83	0	0	0	0.124865	0	43	83				
LAMA3	3909	broad.mit.edu	37	18	21470025	21470025	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr18:21470025A>G	ENST00000313654.9	+	42	5595	c.5354A>G	c.(5353-5355)cAa>cGa	p.Q1785R	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q1785R|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q176R|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q176R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1785	Domain III A.|Laminin EGF-like 14. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTAGCTGCCAACCATGCAGT	0.498																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(5353-5355)cAa>cGa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	112.0	113.0					18																	21470025		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21470025A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5354A>G	18.37:g.21470025A>G	ENSP00000324532:p.Gln1785Arg					LAMA3_ENST00000399516.3_Missense_Mutation_p.Q1785R|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q176R|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q176R	p.Q1785R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			42	5595	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1785			Domain III A.|Laminin EGF-like 14.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5354A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235845	0.39498	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.62788	-0.0;-0.0;-0.0	5.48	3.1	0.35709	EGF-like, laminin (2);Growth factor, receptor (1);	.	.	.	.	T	0.50803	0.1637	L	0.46614	1.455	0.37975	D	0.933416	B;B;B;B	0.17852	0.012;0.016;0.01;0.024	B;B;B;B	0.19391	0.007;0.01;0.025;0.017	T	0.40664	-0.9551	9	0.18710	T	0.47	.	9.115	0.36753	0.8486:0.0:0.1514:0.0	.	176;176;1785;1785	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	1785;1785;176	ENSP00000324532:Q1785R;ENSP00000382432:Q1785R;ENSP00000269217:Q176R	ENSP00000269217:Q176R	Q	+	2	0	LAMA3	19724023	0.995000	0.38212	0.887000	0.34795	0.856000	0.48823	1.659000	0.37387	0.386000	0.24997	0.533000	0.62120	CAA		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		40	126	0	0	0	0.111260	0	40	126				
TKT	7086	broad.mit.edu	37	3	53262142	53262142	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:53262142G>T	ENST00000462138.1	-	12	1591	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.D454E|TKT_ENST00000423525.2_Missense_Mutation_p.D501E|TKT_ENST00000423516.1_Missense_Mutation_p.D509E			P29401	TKT_HUMAN	transketolase	501					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CGGTCACCTGGTCATCCTTGC	0.622																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1501-1503)gaC>gaA		transketolase	Thiamine(DB00152)						76.0	72.0	74.0					3																	53262142		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53262142G>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1503C>A	3.37:g.53262142G>T	ENSP00000417773:p.Asp501Glu					TKT_ENST00000423516.1_Missense_Mutation_p.D509E|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D501E|TKT_ENST00000296289.6_Missense_Mutation_p.D454E	p.D501E			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	12	1591	-		Prostate(884;0.0959)	501					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.1503C>A	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262404	0.80358	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.4	3.6	0.41247	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.79926	2.475	0.80722	D	1	D;D;D	0.76494	0.982;0.999;0.999	D;D;D	0.91635	0.98;0.999;0.999	D	0.85115	0.0965	10	0.52906	T	0.07	-13.411	9.3792	0.38301	0.2198:0.0:0.7802:0.0	.	509;418;501	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	E	501;501;509;454;335	ENSP00000417773:D501E;ENSP00000405455:D501E;ENSP00000391481:D509E;ENSP00000296289:D454E	ENSP00000296289:D454E	D	-	3	2	TKT	53237182	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.440000	0.44855	0.650000	0.30769	0.563000	0.77884	GAC		0.622	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			21	25	1	0	3.8784e-16	0.234183	4.46225e-16	21	25				
CDK5R2	8941	broad.mit.edu	37	2	219825193	219825193	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:219825193C>T	ENST00000302625.4	+	1	817	c.651C>T	c.(649-651)gaC>gaT	p.D217D	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	217					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGTGTGGACCGCTCGCTGC	0.672																																						ENST00000302625.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(649-651)gaC>gaT		cyclin-dependent kinase 5, regulatory subunit 2 (p39)							38.0	39.0	39.0					2																	219825193		2203	4300	6503	SO:0001819	synonymous_variant	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825193C>T	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.651C>T	2.37:g.219825193C>T						AC097468.7_ENST00000429343.1_RNA	p.D217D	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	817	+		Renal(207;0.0474)	217					Q4ZFW6	Silent	SNP	ENST00000302625.4	37	c.651C>T	CCDS2427.1																																																																																				0.672	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		19	52	0	0	0	0.204396	0	19	52				
DCST2	127579	broad.mit.edu	37	1	155004243	155004243	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:155004243C>T	ENST00000368424.3	-	4	604	c.546G>A	c.(544-546)agG>agA	p.R182R	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.R182R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	182						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCGGAGAGCCCTGGCTGGGG	0.582																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(544-546)agG>agA		DC-STAMP domain containing 2							31.0	28.0	29.0					1																	155004243		2203	4298	6501	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155004243C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.546G>A	1.37:g.155004243C>T						DCST2_ENST00000295536.5_Silent_p.R182R	p.R182R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	604	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		182					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.546G>A	CCDS1082.2																																																																																				0.582	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		3	26	0	0	0	0.184627	0	3	26				
NSD1	64324	broad.mit.edu	37	5	176684057	176684057	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:176684057C>A	ENST00000439151.2	+	13	4916	c.4871C>A	c.(4870-4872)cCa>cAa	p.P1624Q	NSD1_ENST00000361032.4_Missense_Mutation_p.P1521Q|NSD1_ENST00000347982.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000354179.4_Missense_Mutation_p.P1355Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1624					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGAAGTACCCACCCACTGTT	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4870-4872)cCa>cAa		nuclear receptor binding SET domain protein 1							139.0	117.0	125.0					5																	176684057		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176684057C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4871C>A	5.37:g.176684057C>A	ENSP00000395929:p.Pro1624Gln	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000354179.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000361032.4_Missense_Mutation_p.P1521Q	p.P1624Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	13	4916	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1624					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4871C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949953	0.92660	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	4.9	4.9	0.64082	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.56097	D	0.000030	D	0.97816	0.9283	M	0.83774	2.66	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.998;0.988	D;D;D	0.76575	0.988;0.963;0.92	D	0.98474	1.0602	10	0.87932	D	0	.	18.9766	0.92740	0.0:1.0:0.0:0.0	.	1355;1521;1624	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1355;1624;1355;1521	ENSP00000346111:P1355Q;ENSP00000395929:P1624Q;ENSP00000343209:P1355Q;ENSP00000354310:P1521Q	ENSP00000343209:P1355Q	P	+	2	0	NSD1	176616663	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	7.716000	0.84723	2.649000	0.89929	0.650000	0.86243	CCA		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		36	99	1	0	1.90571e-15	0.203993	2.16926e-15	36	99				
CSMD1	64478	broad.mit.edu	37	8	3224564	3224564	+	Silent	SNP	G	G	A	rs375015688		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:3224564G>A	ENST00000520002.1	-	21	3663	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I	CSMD1_ENST00000537824.1_Silent_p.I1035I|CSMD1_ENST00000602723.1_Silent_p.I1036I|CSMD1_ENST00000542608.1_Silent_p.I1035I|CSMD1_ENST00000539096.1_Silent_p.I1035I|CSMD1_ENST00000602557.1_Silent_p.I1036I|CSMD1_ENST00000400186.3_Silent_p.I1036I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1036	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAAAATGTGATATTGAAGC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.0					ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3106-3108)atC>atT		CUB and Sushi multiple domains 1							56.0	61.0	60.0					8																	3224564		1979	4156	6135	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3224564G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3108C>T	8.37:g.3224564G>A						CSMD1_ENST00000602723.1_Silent_p.I1036I|CSMD1_ENST00000400186.3_Silent_p.I1036I|CSMD1_ENST00000602557.1_Silent_p.I1036I|CSMD1_ENST00000542608.1_Silent_p.I1035I|CSMD1_ENST00000539096.1_Silent_p.I1035I|CSMD1_ENST00000537824.1_Silent_p.I1035I	p.I1036I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	21	3663	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1036			CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3108C>T		.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652282	0.03480	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.09	2.24	0.28232	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	.	4.155	0.10256	0.3472:0.0:0.463:0.1898	.	.	.	.	Y	516	.	.	H	-	1	0	CSMD1	3211971	0.846000	0.29590	0.930000	0.37139	0.103000	0.19146	-0.124000	0.10595	0.530000	0.28619	0.455000	0.32223	CAC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	16	0	0	0	0.217242	0	6	16				
HYDIN	54768	broad.mit.edu	37	16	70934923	70934923	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:70934923T>A	ENST00000393567.2	-	53	9182	c.9032A>T	c.(9031-9033)aAg>aTg	p.K3011M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3011					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGAATAGCCTTCTTGATGTT	0.517																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9031-9033)aAg>aTg		HYDIN, axonemal central pair apparatus protein							82.0	82.0	82.0					16																	70934923		1900	4111	6011	SO:0001583	missense	54768							g.chr16:70934923T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9032A>T	16.37:g.70934923T>A	ENSP00000377197:p.Lys3011Met						p.K3011M	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9182	-		Ovarian(137;0.0654)	3011					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9032A>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178982	0.57692	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.39	4.39	0.52855	.	0.000000	0.34362	U	0.004028	T	0.02970	0.0088	M	0.72118	2.19	0.80722	D	1	P	0.44090	0.826	P	0.45712	0.491	T	0.53676	-0.8405	10	0.51188	T	0.08	.	13.5437	0.61690	0.0:0.0:0.0:1.0	.	3010	F8WD23	.	M	3011;3010	ENSP00000377197:K3011M	ENSP00000313052:K3010M	K	-	2	0	HYDIN	69492424	1.000000	0.71417	0.965000	0.40720	0.246000	0.25737	3.847000	0.55895	1.747000	0.51819	0.164000	0.16699	AAG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			35	118	0	0	0	0.139131	0	35	118				
FGF10	2255	broad.mit.edu	37	5	44388667	44388667	+	Missense_Mutation	SNP	G	G	T	rs146669375		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:44388667G>T	ENST00000264664.4	-	1	232	c.118C>A	c.(118-120)Ctt>Att	p.L40I	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	40					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCCTGACCAAGGGCTTGGCAG	0.582																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(118-120)Ctt>Att		fibroblast growth factor 10							55.0	53.0	53.0					5																	44388667		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388667G>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.118C>A	5.37:g.44388667G>T	ENSP00000264664:p.Leu40Ile						p.L40I	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	232	-	Lung NSC(6;1.12e-06)		40					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.118C>A	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858042	0.32791	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.75704	-0.96	4.72	3.77	0.43336	.	4.071010	0.00424	N	0.000060	T	0.63355	0.2504	N	0.19112	0.55	0.27746	N	0.944325	B	0.33694	0.421	B	0.24701	0.055	T	0.53493	-0.8431	10	0.20519	T	0.43	.	15.132	0.72533	0.0:0.0:0.8492:0.1508	.	40	O15520	FGF10_HUMAN	I	40	ENSP00000264664:L40I	ENSP00000264664:L40I	L	-	1	0	FGF10	44424424	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.577000	0.53885	2.440000	0.82611	0.561000	0.74099	CTT		0.582	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		19	44	1	0	2.89027e-11	0.069288	3.18823e-11	19	44				
TMEM39A	55254	broad.mit.edu	37	3	119155755	119155755	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:119155755A>C	ENST00000319172.5	-	7	1415	c.995T>G	c.(994-996)aTg>aGg	p.M332R	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	332						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CGTGGTGAGCATGACAAAAGC	0.468																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(994-996)aTg>aGg		transmembrane protein 39A							294.0	263.0	274.0					3																	119155755		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119155755A>C	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.995T>G	3.37:g.119155755A>C	ENSP00000326063:p.Met332Arg						p.M332R	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1415	-			332					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.995T>G	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.426049	0.62733	.	.	ENSG00000176142	ENST00000319172	T	0.48522	0.81	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.61703	1.905	0.80722	D	1	D	0.58268	0.982	P	0.62649	0.905	T	0.66929	-0.5799	10	0.72032	D	0.01	-14.4816	14.3415	0.66630	1.0:0.0:0.0:0.0	.	332	Q9NV64	TM39A_HUMAN	R	332	ENSP00000326063:M332R	ENSP00000326063:M332R	M	-	2	0	TMEM39A	120638445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.179000	0.69175	0.528000	0.53228	ATG		0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		114	237	0	0	0	0.139131	0	114	237				
CD163L1	283316	broad.mit.edu	37	12	7510009	7510009	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:7510009G>A	ENST00000313599.3	-	19	4410	c.4353C>T	c.(4351-4353)gcC>gcT	p.A1451A	CD163L1_ENST00000416109.2_Silent_p.A1461A|CD163L1_ENST00000396630.1_Silent_p.A1419A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1451						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCATTTTGTGGCTTCAGAGG	0.418																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4351-4353)gcC>gcT		CD163 molecule-like 1							97.0	91.0	93.0					12																	7510009		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7510009G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4353C>T	12.37:g.7510009G>A						CD163L1_ENST00000396630.1_Silent_p.A1419A|CD163L1_ENST00000416109.2_Silent_p.A1461A	p.A1451A			Q9NR16	C163B_HUMAN			19	4410	-			1451					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.4353C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	3.826	-0.036685	0.07497	.	.	ENSG00000177675	ENST00000539726	.	.	.	1.07	0.14	0.14804	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	3.2812	0.06916	0.299:0.0:0.701:0.0	.	.	.	.	Y	107	.	.	H	-	1	0	CD163L1	7401276	0.008000	0.16893	0.084000	0.20598	0.179000	0.23085	-0.469000	0.06648	0.031000	0.15407	0.549000	0.68633	CAC		0.418	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		17	45	0	0	0	0.219247	0	17	45				
RARS	5917	broad.mit.edu	37	5	167922351	167922351	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:167922351C>G	ENST00000231572.3	+	6	665	c.611C>G	c.(610-612)gCt>gGt	p.A204G	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	204					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCTAATATAGCTAAAGAGATG	0.418																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(610-612)gCt>gGt		arginyl-tRNA synthetase							191.0	187.0	188.0					5																	167922351		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167922351C>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.611C>G	5.37:g.167922351C>G	ENSP00000231572:p.Ala204Gly					RARS_ENST00000538719.1_5'UTR	p.A204G	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	6	665	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	204					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.611C>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166775	0.94768	.	.	ENSG00000113643	ENST00000231572	T	0.71103	-0.54	5.2	5.2	0.72013	Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	H	0.95574	3.69	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.92496	0.6004	10	0.87932	D	0	-24.937	18.7694	0.91885	0.0:1.0:0.0:0.0	.	204	P54136	SYRC_HUMAN	G	204	ENSP00000231572:A204G	ENSP00000231572:A204G	A	+	2	0	RARS	167854929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.440000	0.80464	2.422000	0.82143	0.655000	0.94253	GCT		0.418	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		95	286	0	0	0	0.139131	0	95	286				
ZNRF4	148066	broad.mit.edu	37	19	5455579	5455579	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:5455579A>G	ENST00000222033.4	+	1	154	c.77A>G	c.(76-78)cAc>cGc	p.H26R		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	26						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTCTGAGCCACGCGGTCATT	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(76-78)cAc>cGc		zinc and ring finger 4							42.0	49.0	46.0					19																	5455579		2108	4217	6325	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455579A>G	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.77A>G	19.37:g.5455579A>G	ENSP00000222033:p.His26Arg						p.H26R	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	154	+			26					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.77A>G	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991736	0.35131	.	.	ENSG00000105428	ENST00000222033	T	0.04275	3.66	2.91	-5.81	0.02340	.	.	.	.	.	T	0.02494	0.0076	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45948	-0.9226	9	0.62326	D	0.03	.	1.0133	0.01502	0.3204:0.2842:0.2582:0.1372	.	26	Q8WWF5	ZNRF4_HUMAN	R	26	ENSP00000222033:H26R	ENSP00000222033:H26R	H	+	2	0	ZNRF4	5406579	0.000000	0.05858	0.021000	0.16686	0.035000	0.12851	-2.218000	0.01219	-1.076000	0.03125	0.260000	0.18958	CAC		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		12	49	0	0	0	0.105934	0	12	49				
GAS2	2620	broad.mit.edu	37	11	22770733	22770733	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:22770733G>A	ENST00000454584.2	+	6	846	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	GAS2_ENST00000278187.3_Missense_Mutation_p.A181T|GAS2_ENST00000433790.1_Missense_Mutation_p.A181T	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	181					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AACACTTTCTGCCCCTTCTCC	0.393																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(541-543)Gcc>Acc		growth arrest-specific 2							106.0	107.0	107.0					11																	22770733		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22770733G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.541G>A	11.37:g.22770733G>A	ENSP00000401145:p.Ala181Thr					GAS2_ENST00000433790.1_Missense_Mutation_p.A181T|GAS2_ENST00000278187.3_Missense_Mutation_p.A181T	p.A181T	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			6	846	+			181					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.541G>A	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672207	0.29693	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.86	4.01	0.46588	Calponin homology domain (2);	0.364255	0.31531	N	0.007487	T	0.19287	0.0463	N	0.02011	-0.69	0.40820	D	0.983492	B	0.02656	0.0	B	0.01281	0.0	T	0.05037	-1.0910	10	0.19590	T	0.45	-5.29	8.7294	0.34489	0.2814:0.0:0.7186:0.0	.	181	O43903	GAS2_HUMAN	T	181	ENSP00000432584:A181T;ENSP00000401145:A181T;ENSP00000278187:A181T;ENSP00000435946:A181T;ENSP00000396708:A181T	ENSP00000278187:A181T	A	+	1	0	GAS2	22727309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	0.943000	0.37553	0.650000	0.86243	GCC		0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		9	72	0	0	0	0.047766	0	9	72				
SRRT	51593	broad.mit.edu	37	7	100485480	100485480	+	Splice_Site	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:100485480A>G	ENST00000347433.4	+	17	2484	c.2326A>G	c.(2326-2328)Ata>Gta	p.I776V	SRRT_ENST00000457580.2_Splice_Site_p.S776G|SRRT_ENST00000432932.1_Splice_Site_p.S775G|SRRT_ENST00000388793.4_Splice_Site_p.I775V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	776	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCGCCCAGAGTAAGATACG	0.532																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.e17+1		serrate RNA effector molecule homolog (Arabidopsis)							54.0	61.0	59.0					7																	100485480		2203	4300	6503	SO:0001630	splice_region_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485480A>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2326+1A>G	7.37:g.100485480A>G						SRRT_ENST00000432932.1_Splice_Site_p.S775_splice|SRRT_ENST00000457580.2_Splice_Site_p.S776_splice|SRRT_ENST00000347433.4_Splice_Site_p.I776_splice	p.I775_splice	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			17	2543	+			776			Pro-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Splice_Site	SNP	ENST00000347433.4	37	c.2323_splice	CCDS34709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.01|10.01	1.234241|1.234241	0.22626|0.22626	.|.	.|.	ENSG00000087087|ENSG00000087087	ENST00000388793;ENST00000342198;ENST00000347433;ENST00000448764;ENST00000445337|ENST00000457580;ENST00000432932	.|.	.|.	.|.	4.74|4.74	3.59|3.59	0.41128|0.41128	Arsenite-resistance protein 2 (1);|.	0.377435|.	0.27168|.	N|.	0.020603|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.08118|0.08118	0|0	0.24514|0.24514	N|N	0.994194|0.994194	B;B|B;B	0.10296|0.02656	0.002;0.003|0.0;0.0	B;B|B;B	0.11329|0.01281	0.003;0.006|0.0;0.0	T|T	0.31724|0.31724	-0.9933|-0.9933	9|8	0.15952|0.02654	T|T	0.53|1	.|.	6.8439|6.8439	0.23977|0.23977	0.8942:0.0:0.1058:0.0|0.8942:0.0:0.1058:0.0	.|.	775;776|775;776	Q9BXP5-3;Q9BXP5|Q9BXP5-4;Q9BXP5-2	.;SRRT_HUMAN|.;.	V|G	775;141;776;406;53|776;775	.|.	ENSP00000344670:I141V|ENSP00000391852:S775G	I|S	+|+	1|1	0|0	SRRT|SRRT	100323416|100323416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	6.237000|6.237000	0.72345|0.72345	0.847000|0.847000	0.35167|0.35167	0.254000|0.254000	0.18369|0.18369	ATA|AGT		0.532	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	Missense_Mutation	18	77	0	0	0	0.069288	0	18	77				
TRAF6	7189	broad.mit.edu	37	11	36511852	36511852	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:36511852C>T	ENST00000526995.1	-	7	1351	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.E369K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	369	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGTTTCTCCTCTTCTTGACAT	0.453																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1105-1107)Gag>Aag		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							112.0	111.0	111.0					11																	36511852		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511852C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1105G>A	11.37:g.36511852C>T	ENSP00000433623:p.Glu369Lys					TRAF6_ENST00000348124.5_Missense_Mutation_p.E369K	p.E369K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1351	-	all_lung(20;0.211)	all_hematologic(20;0.107)	369			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1105G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389086	0.42410	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.81330	-1.48;-1.48	5.35	5.35	0.76521	TRAF-type (1);TRAF-like (1);MATH (3);	0.044232	0.85682	D	0.000000	T	0.75125	0.3807	L	0.47716	1.5	0.80722	D	1	B	0.22276	0.067	B	0.23275	0.045	T	0.70099	-0.4965	10	0.08381	T	0.77	-21.406	19.4113	0.94673	0.0:1.0:0.0:0.0	.	369	Q9Y4K3	TRAF6_HUMAN	K	369	ENSP00000433623:E369K;ENSP00000337853:E369K	ENSP00000337853:E369K	E	-	1	0	TRAF6	36468428	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.674000	0.68117	2.657000	0.90304	0.555000	0.69702	GAG		0.453	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		23	95	0	0	0	0.076483	0	23	95				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	40	0	0	0	0.150653	0	4	40				
TSTD2	158427	broad.mit.edu	37	9	100367110	100367110	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:100367110A>T	ENST00000341170.4	-	9	1533	c.1151T>A	c.(1150-1152)aTc>aAc	p.I384N	TSTD2_ENST00000354801.2_Missense_Mutation_p.I124N	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	384	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GTACTTGTGGATGCCACCCTT	0.473																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1150-1152)aTc>aAc		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							114.0	102.0	106.0					9																	100367110		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100367110A>T	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1151T>A	9.37:g.100367110A>T	ENSP00000342499:p.Ile384Asn					TSTD2_ENST00000375172.2_Missense_Mutation_p.I158N|TSTD2_ENST00000375165.1_Missense_Mutation_p.I124N|TSTD2_ENST00000354801.2_Missense_Mutation_p.I124N	p.I384N	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			9	1533	-			384			Rhodanese.		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1151T>A	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480413	0.84747	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.28666	1.6;1.6;1.6	4.3	4.3	0.51218	Rhodanese-like (5);	0.052696	0.64402	D	0.000001	T	0.67878	0.2940	H	0.96996	3.92	0.53005	D	0.999968	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.79780	-0.1659	10	0.87932	D	0	-11.622	13.5952	0.61984	1.0:0.0:0.0:0.0	.	158;384	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	N	158;384;124;124	ENSP00000342499:I384N;ENSP00000364308:I124N;ENSP00000346856:I124N	ENSP00000342499:I384N	I	-	2	0	TSTD2	99406931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.552000	0.90682	1.947000	0.56498	0.460000	0.39030	ATC		0.473	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		17	49	0	0	0	0.189662	0	17	49				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	43	0	0	0	0.184627	0	5	43				
GPT	2875	broad.mit.edu	37	8	145730220	145730220	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:145730220A>G	ENST00000528431.1	+	4	476	c.319A>G	c.(319-321)Agg>Ggg	p.R107G	GPT_ENST00000394955.2_Missense_Mutation_p.R107G			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	107					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TGCCAAGAAAAGGGCGGAGCG	0.632																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(319-321)Agg>Ggg		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						149.0	168.0	162.0					8																	145730220		2203	4300	6503	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730220A>G		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.319A>G	8.37:g.145730220A>G	ENSP00000433586:p.Arg107Gly					GPT_ENST00000528431.1_Missense_Mutation_p.R107G	p.R107G	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	542	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.319A>G	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471941	0.63737	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90732	-2.72;-2.72	5.23	2.55	0.30701	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.144234	0.64402	D	0.000011	D	0.96408	0.8828	H	0.97365	3.99	0.43994	D	0.996695	D;D	0.60575	0.981;0.988	D;D	0.67900	0.922;0.954	D	0.96283	0.9208	10	0.87932	D	0	-32.8114	11.2767	0.49172	0.7001:0.2999:0.0:0.0	.	107;107	B4DPT5;P24298	.;ALAT1_HUMAN	G	107	ENSP00000433586:R107G;ENSP00000378408:R107G	ENSP00000378408:R107G	R	+	1	2	GPT	145701028	0.001000	0.12720	0.960000	0.40013	0.489000	0.33432	0.380000	0.20602	0.773000	0.33404	0.459000	0.35465	AGG		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			68	196	0	0	0	0.139131	0	68	196				
CUX1	1523	broad.mit.edu	37	7	101754986	101754986	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:101754986A>C	ENST00000292535.7	+	7	577	c.539A>C	c.(538-540)cAg>cCg	p.Q180P	CUX1_ENST00000292538.4_Missense_Mutation_p.Q191P|CUX1_ENST00000393824.3_Missense_Mutation_p.Q154P|CUX1_ENST00000437600.4_Missense_Mutation_p.Q191P|CUX1_ENST00000360264.3_Missense_Mutation_p.Q191P|CUX1_ENST00000550008.2_Missense_Mutation_p.Q180P|CUX1_ENST00000546411.2_Missense_Mutation_p.Q180P|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.Q180P|CUX1_ENST00000547394.2_Missense_Mutation_p.Q175P|CUX1_ENST00000425244.2_Missense_Mutation_p.Q145P|CUX1_ENST00000556210.1_Missense_Mutation_p.Q180P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	180					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAAAGCTGCAGGAGACACAG	0.507																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(571-573)cAg>cCg		cut-like homeobox 1							111.0	95.0	101.0					7																	101754986		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101754986A>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.539A>C	7.37:g.101754986A>C	ENSP00000292535:p.Gln180Pro					CUX1_ENST00000550008.2_Missense_Mutation_p.Q180P|CUX1_ENST00000547394.2_Missense_Mutation_p.Q175P|CUX1_ENST00000437600.4_Missense_Mutation_p.Q191P|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292535.7_Missense_Mutation_p.Q180P|CUX1_ENST00000292538.4_Missense_Mutation_p.Q191P|CUX1_ENST00000549414.2_Missense_Mutation_p.Q180P|CUX1_ENST00000546411.2_Missense_Mutation_p.Q180P|CUX1_ENST00000425244.2_Missense_Mutation_p.Q145P|CUX1_ENST00000393824.3_Missense_Mutation_p.Q154P|CUX1_ENST00000556210.1_Missense_Mutation_p.Q180P	p.Q191P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			7	592	+			180					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.572A>C	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910822	0.92178	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.78595	0.9;0.9;0.9;1.39;0.9;0.9;-1.19;0.9;0.9;0.9	5.66	5.66	0.87406	.	0.118903	0.56097	D	0.000022	D	0.85583	0.5730	L	0.52905	1.665	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.979;0.981;0.997;0.998	P;D;D;P;P;P;D	0.78314	0.731;0.979;0.979;0.705;0.714;0.791;0.991	D	0.86640	0.1891	10	0.66056	D	0.02	-27.2677	16.2026	0.82095	1.0:0.0:0.0:0.0	.	154;180;145;175;191;191;191	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	P	191;175;191;145;191;180;180;180;180;180	ENSP00000292538:Q191P;ENSP00000449371:Q175P;ENSP00000353401:Q191P;ENSP00000409745:Q145P;ENSP00000414091:Q191P;ENSP00000292535:Q180P;ENSP00000446630:Q180P;ENSP00000447373:Q180P;ENSP00000450125:Q180P;ENSP00000451558:Q180P	ENSP00000292535:Q180P	Q	+	2	0	CUX1	101541706	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	8.272000	0.89885	2.285000	0.76669	0.533000	0.62120	CAG		0.507	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	40	0	0	0	0.058154	0	10	40				
IGKV1D-42	28892	broad.mit.edu	37	2	90229367	90229367	+	RNA	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:90229367G>A	ENST00000390278.2	+	0	207									immunoglobulin kappa variable 1D-42 (non-functional)																		GCAGAAACCAGGGAAATCCCC	0.493																																						ENST00000390278.2																			0																				75.0	79.0	78.0					2																	90229367		1873	4114	5987			28892							g.chr2:90229367G>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.90229367G>A														0	207	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.493	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		6	88	0	0	0	0.217242	0	6	88				
ITGA7	3679	broad.mit.edu	37	12	56101360	56101360	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:56101360A>G	ENST00000555728.1	-	1	135	c.107T>C	c.(106-108)cTg>cCg	p.L36P	ITGA7_ENST00000347027.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257879.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257880.7_Missense_Mutation_p.L36P|ITGA7_ENST00000394230.2_Missense_Mutation_p.L36P|ITGA7_ENST00000553804.1_Missense_Mutation_p.L36P|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.L36P			Q13683	ITA7_HUMAN	integrin, alpha 7	36					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATCACGTCCAGATTGAAGGC	0.662																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(106-108)cTg>cCg		integrin, alpha 7							37.0	42.0	40.0					12																	56101360		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56101360A>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.107T>C	12.37:g.56101360A>G	ENSP00000452387:p.Leu36Pro					ITGA7_ENST00000555728.1_Missense_Mutation_p.L36P|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.L36P|ITGA7_ENST00000394230.2_Missense_Mutation_p.L36P|ITGA7_ENST00000347027.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257879.6_Missense_Mutation_p.L36P|ITGA7_ENST00000553804.1_Missense_Mutation_p.L36P	p.L36P			Q13683	ITA7_HUMAN			1	326	-			36					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.107T>C		.	.	.	.	.	.	.	.	.	.	A	27.2	4.812904	0.90707	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.36	4.36	0.52297	.	0.000000	0.48767	D	0.000180	D	0.95376	0.8499	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96010	0.9001	10	0.87932	D	0	.	11.8376	0.52336	1.0:0.0:0.0:0.0	.	36;99	Q13683-3;Q4LE35	.;.	P	36	ENSP00000452120:L36P;ENSP00000257879:L36P;ENSP00000343009:L36P;ENSP00000257880:L36P;ENSP00000377777:L36P;ENSP00000377776:L36P;ENSP00000452387:L36P	ENSP00000257879:L36P	L	-	2	0	ITGA7	54387627	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.359000	0.90093	1.967000	0.57214	0.379000	0.24179	CTG		0.662	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		5	20	0	0	0	0.029380	0	5	20				
RAPSN	5913	broad.mit.edu	37	11	47463274	47463274	+	Silent	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:47463274G>T	ENST00000298854.2	-	5	1014	c.801C>A	c.(799-801)ccC>ccA	p.P267P	RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000352508.3_Intron|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000524487.1_Silent_p.P214P|RAPSN_ENST00000528356.1_5'UTR	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	267					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGTCGTACCTGGGGAAGGCTG	0.667																																						ENST00000298854.2																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(799-801)ccC>ccA		receptor-associated protein of the synapse							33.0	33.0	33.0					11																	47463274		2201	4298	6499	SO:0001819	synonymous_variant	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47463274G>T		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.801C>A	11.37:g.47463274G>T						RAPSN_ENST00000528356.1_5'UTR|RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000352508.3_Intron|RAPSN_ENST00000524487.1_Silent_p.P214P	p.P267P	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN			5	1014	-			267					Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	c.801C>A	CCDS7936.1																																																																																				0.667	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			3	27	1	0	0.115264	0.115264	0.120914	3	27				
FAM129B	64855	broad.mit.edu	37	9	130287400	130287400	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:130287400C>T	ENST00000373312.3	-	4	571	c.358G>A	c.(358-360)Gca>Aca	p.A120T	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.A107T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGTAGCCTGCACTGTTGATG	0.587																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(358-360)Gca>Aca		family with sequence similarity 129, member B							125.0	110.0	115.0					9																	130287400		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130287400C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.358G>A	9.37:g.130287400C>T	ENSP00000362409:p.Ala120Thr					FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.A107T	p.A120T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			4	571	-			120			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.358G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153193	0.94645	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16597	2.33;2.33	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.00657	-1.1623	10	0.35671	T	0.21	-15.0557	17.2762	0.87116	0.0:1.0:0.0:0.0	.	107;120	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	T	107;120	ENSP00000362411:A107T;ENSP00000362409:A120T	ENSP00000362409:A120T	A	-	1	0	FAM129B	129327221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.381000	0.66208	2.677000	0.91161	0.561000	0.74099	GCA		0.587	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		4	58	0	0	0	0.184627	0	4	58				
RPL21	6144	broad.mit.edu	37	13	27828378	27828378	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr13:27828378A>T	ENST00000311549.6	+	3	378	c.89A>T	c.(88-90)tAt>tTt	p.Y30F	SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000272274.4_Missense_Mutation_p.Y30F|RPL21_ENST00000319826.4_Missense_Mutation_p.Y30F|RPL21_ENST00000326092.4_Missense_Mutation_p.Y30F|SNORA27_ENST00000384323.1_RNA	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		TTGGCCACATATATGCGAATC	0.289																																						ENST00000311549.6																			0				large_intestine(1)|lung(1)	2						c.(88-90)tAt>tTt		ribosomal protein L21							109.0	112.0	111.0					13																	27828378		2203	4299	6502	SO:0001583	missense	6144				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr13:27828378A>T	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"""L ribosomal proteins"""	10313	protein-coding gene	gene with protein product	"""60S ribosomal protein L21"""	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.89A>T	13.37:g.27828378A>T	ENSP00000346027:p.Tyr30Phe					RPL21_ENST00000326092.4_Missense_Mutation_p.Y30F|RPL21_ENST00000319826.4_Missense_Mutation_p.Y30F|RPL21_ENST00000272274.4_Missense_Mutation_p.Y30F	p.Y30F	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)	3	378	+		Lung SC(185;0.0156)	30					Q16699	Missense_Mutation	SNP	ENST00000311549.6	37	c.89A>T	CCDS9320.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575742	0.65878	.	.	ENSG00000122026	ENST00000311549;ENST00000272274;ENST00000319826;ENST00000326092	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.97	4.97	0.65823	Translation protein SH3-like (1);	0.000000	0.85682	U	0.000000	T	0.66177	0.2763	M	0.79614	2.46	0.80722	D	1	B	0.22146	0.065	B	0.28709	0.093	T	0.67503	-0.5654	10	0.56958	D	0.05	.	14.938	0.70973	1.0:0.0:0.0:0.0	.	30	P46778	RL21_HUMAN	F	30	ENSP00000346027:Y30F;ENSP00000351021:Y30F;ENSP00000370574:Y30F;ENSP00000370569:Y30F	ENSP00000351021:Y30F	Y	+	2	0	RPL21	26726378	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.036000	0.93758	1.982000	0.57802	0.528000	0.53228	TAT		0.289	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		12	81	0	0	0	0.093190	0	12	81				
IQGAP3	128239	broad.mit.edu	37	1	156521627	156521627	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:156521627A>G	ENST00000361170.2	-	15	1614	c.1604T>C	c.(1603-1605)cTg>cCg	p.L535P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	535					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTTTGTCCAGAGCCTCATT	0.572																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(1603-1605)cTg>cCg		IQ motif containing GTPase activating protein 3							68.0	66.0	67.0					1																	156521627		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521627A>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1604T>C	1.37:g.156521627A>G	ENSP00000354451:p.Leu535Pro						p.L535P	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			15	1614	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		535					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1604T>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123259	0.77436	.	.	ENSG00000183856	ENST00000361170	T	0.10960	2.82	4.76	4.76	0.60689	.	0.102711	0.41097	D	0.000956	T	0.25121	0.0610	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.04140	-1.0974	10	0.87932	D	0	-11.0252	13.1267	0.59360	1.0:0.0:0.0:0.0	.	535	Q86VI3	IQGA3_HUMAN	P	535	ENSP00000354451:L535P	ENSP00000354451:L535P	L	-	2	0	IQGAP3	154788251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.940000	0.92958	1.791000	0.52520	0.402000	0.26972	CTG		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		25	61	0	0	0	0.099896	0	25	61				
CFAP43	80217	broad.mit.edu	37	10	105990520	105990520	+	De_novo_Start_InFrame	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr10:105990520T>C	ENST00000278064.2	-	0	262				WDR96_ENST00000369719.1_De_novo_Start_InFrame|WDR96_ENST00000369720.1_De_novo_Start_InFrame|WDR96_ENST00000428666.1_Missense_Mutation_p.I49M|WDR96_ENST00000357060.3_Missense_Mutation_p.I49M																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						TATTAATAAATATTACATAAT	0.388																																						ENST00000357060.3																			0				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.(145-147)atA>atG		WD repeat domain 96							76.0	77.0	76.0					10																	105990520		2203	4300	6503			80217							g.chr10:105990520T>C																													10.37:g.105990520T>C						WDR96_ENST00000278064.2_De_novo_Start_InFrame|WDR96_ENST00000428666.1_Missense_Mutation_p.I49M|WDR96_ENST00000369719.1_De_novo_Start_InFrame|WDR96_ENST00000369720.1_De_novo_Start_InFrame	p.I49M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			2	262	-			49						Missense_Mutation	SNP	ENST00000278064.2	37	c.147A>G		.	.	.	.	.	.	.	.	.	.	T	12.80	2.046008	0.36085	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.13657	2.57;2.57	4.83	3.56	0.40772	.	0.000000	0.38005	N	0.001850	T	0.19805	0.0476	L	0.44542	1.39	0.29034	N	0.885523	P;D;D	0.67145	0.896;0.996;0.994	P;D;P	0.66497	0.575;0.944;0.906	T	0.10497	-1.0627	10	0.45353	T	0.12	.	1.9176	0.03300	0.2125:0.0919:0.1386:0.5571	.	49;49;49	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	M	49	ENSP00000349568:I49M;ENSP00000400289:I49M	ENSP00000349568:I49M	I	-	3	3	WDR96	105980510	1.000000	0.71417	0.990000	0.47175	0.390000	0.30446	1.002000	0.29796	1.813000	0.52934	0.402000	0.26972	ATA		0.388	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			24	59	0	0	0	0.069288	0	24	59				
UBE2O	63893	broad.mit.edu	37	17	74392603	74392603	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr17:74392603G>A	ENST00000319380.7	-	14	2479	c.2415C>T	c.(2413-2415)gaC>gaT	p.D805D	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	805					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGGGTGGCCCGTCCTTGCCAG	0.632																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2413-2415)gaC>gaT		ubiquitin-conjugating enzyme E2O							106.0	116.0	112.0					17																	74392603		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392603G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2415C>T	17.37:g.74392603G>A							p.D805D	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2479	-			805					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.2415C>T	CCDS32742.1																																																																																				0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		8	262	0	0	0	0.047766	0	8	262				
EXOC1	55763	broad.mit.edu	37	4	56768547	56768547	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr4:56768547G>A	ENST00000381295.2	+	18	2723	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	EXOC1_ENST00000349598.6_Missense_Mutation_p.G777D|EXOC1_ENST00000346134.7_Missense_Mutation_p.G792D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	792					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GTGGCACAGGGCATAAGGGAG	0.363																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2374-2376)gGc>gAc		exocyst complex component 1							85.0	84.0	84.0					4																	56768547		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768547G>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2375G>A	4.37:g.56768547G>A	ENSP00000370695:p.Gly792Asp					EXOC1_ENST00000346134.7_Missense_Mutation_p.G792D|EXOC1_ENST00000349598.6_Missense_Mutation_p.G777D	p.G792D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			18	2723	+	Glioma(25;0.08)|all_neural(26;0.101)		792					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2375G>A	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576075	0.86645	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85345	0.1098	9	0.59425	D	0.04	.	19.3685	0.94475	0.0:0.0:1.0:0.0	.	777;792	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	D	792;792;777	.	ENSP00000326514:G792D	G	+	2	0	EXOC1	56463304	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.476000	0.97823	2.585000	0.87301	0.591000	0.81541	GGC		0.363	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		3	60	0	0	0	0.150653	0	3	60				
MGAT4A	11320	broad.mit.edu	37	2	99294822	99294822	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:99294822G>C	ENST00000264968.3	-	2	570	c.207C>G	c.(205-207)ttC>ttG	p.F69L	MGAT4A_ENST00000393487.1_Missense_Mutation_p.F69L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.F69L			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	69					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTACACGCTTGAACTGTTGCA	0.333																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(205-207)ttC>ttG		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							119.0	115.0	116.0					2																	99294822		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294822G>C	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.207C>G	2.37:g.99294822G>C	ENSP00000264968:p.Phe69Leu					MGAT4A_ENST00000409391.1_Missense_Mutation_p.F69L|MGAT4A_ENST00000264968.2_Missense_Mutation_p.F69L	p.F69L	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			3	520	-			69					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.207C>G	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516411	0.44763	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.19250	2.16;2.16;2.16	5.59	1.81	0.25067	.	0.043508	0.85682	D	0.000000	T	0.29458	0.0734	L	0.46157	1.445	0.52501	D	0.999951	D	0.58268	0.982	D	0.67548	0.952	T	0.12941	-1.0528	10	0.08599	T	0.76	.	9.7554	0.40500	0.28:0.0:0.72:0.0	.	69	Q9UM21	MGT4A_HUMAN	L	69	ENSP00000377127:F69L;ENSP00000264968:F69L;ENSP00000386841:F69L	ENSP00000264968:F69L	F	-	3	2	MGAT4A	98661254	1.000000	0.71417	0.146000	0.22360	0.926000	0.56050	3.628000	0.54259	0.055000	0.16094	-0.228000	0.12330	TTC		0.333	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		41	113	0	0	0	0.139131	0	41	113				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	40	0	0	0	0.150653	0	3	40				
GCK	2645	broad.mit.edu	37	7	44191996	44191996	+	Silent	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:44191996C>G	ENST00000403799.3	-	3	706	c.237G>C	c.(235-237)ctG>ctC	p.L79L	GCK_ENST00000476008.1_5'Flank|GCK_ENST00000345378.2_Silent_p.L80L|GCK_ENST00000437084.1_Silent_p.L79L|GCK_ENST00000395796.3_Silent_p.L78L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	79	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TAGTGCCACCCAGGTCCAGGG	0.607																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(235-237)ctG>ctC		glucokinase (hexokinase 4)							218.0	182.0	194.0					7																	44191996		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44191996C>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.237G>C	7.37:g.44191996C>G						GCK_ENST00000395796.3_Silent_p.L78L|GCK_ENST00000345378.2_Silent_p.L80L|GCK_ENST00000437084.1_Silent_p.L79L	p.L79L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			3	706	-			79					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.237G>C	CCDS5479.1																																																																																				0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			25	92	0	0	0	0.076483	0	25	92				
CELSR1	9620	broad.mit.edu	37	22	46806460	46806460	+	Splice_Site	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr22:46806460T>G	ENST00000262738.3	-	7	4769		c.e7-2			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCAGGGACCTGGGTAGGTAA	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.e7-2		cadherin, EGF LAG seven-pass G-type receptor 1							43.0	43.0	43.0					22																	46806460		2203	4300	6503	SO:0001630	splice_region_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806460T>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4770-2A>C	22.37:g.46806460T>G								NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4769	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)						O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	SNP	ENST00000262738.3	37		CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378023	0.61735	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9224	0.63940	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR1	45185124	1.000000	0.71417	0.963000	0.40424	0.576000	0.36127	7.418000	0.80167	1.769000	0.52152	0.533000	0.62120	.		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	Intron	24	51	0	0	0	0.076483	0	24	51				
ZNF219	51222	broad.mit.edu	37	14	21559281	21559281	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:21559281C>G	ENST00000360947.3	-	5	1994	c.1583G>C	c.(1582-1584)tGt>tCt	p.C528S	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.C528S|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.C528S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	528					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCAGTGCGGACACTTGTAGGG	0.672																																						ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(1582-1584)tGt>tCt		zinc finger protein 219							7.0	9.0	8.0					14																	21559281		1987	4036	6023	SO:0001583	missense	51222				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21559281C>G	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1583G>C	14.37:g.21559281C>G	ENSP00000354206:p.Cys528Ser					ZNF219_ENST00000451119.2_Missense_Mutation_p.C528S|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.C528S	p.C528S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	5	1994	-	all_cancers(95;0.00185)		528					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.1583G>C	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803187	0.90623	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	D;D;D	0.85171	-1.95;-1.95;-1.95	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	H	0.94886	3.595	0.51012	D	0.999908	D	0.89917	1.0	D	0.91635	0.999	D	0.95726	0.8770	10	0.87932	D	0	-12.0455	17.2567	0.87059	0.0:1.0:0.0:0.0	.	528	Q9P2Y4	ZN219_HUMAN	S	528	ENSP00000354206:C528S;ENSP00000388558:C528S;ENSP00000392401:C528S	ENSP00000354206:C528S	C	-	2	0	ZNF219	20629121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.754000	0.68743	2.666000	0.90696	0.561000	0.74099	TGT		0.672	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			3	1	0	0	0	0.115264	0	3	1				
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116147_145116148insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA										O75396	SC22B_HUMAN			0	1233_1234	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
LIMS2	55679	broad.mit.edu	37	2	128398541	128398547	+	Frame_Shift_Del	DEL	TCACACT	TCACACT	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:128398541_128398547delTCACACT	ENST00000355119.4	-	7	842_848	c.677_683delAGTGTGA	c.(676-684)aagtgtgagfs	p.KCE226fs	LIMS2_ENST00000409455.1_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000545738.2_Frame_Shift_Del_p.KCE248fs|LIMS2_ENST00000409254.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409286.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409754.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000410011.1_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000410038.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409808.2_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000324938.5_Frame_Shift_Del_p.KCE250fs	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	226	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GAATGGCTTCTCACACTTGGCACAGAC	0.614																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(661-669)agfs		LIM and senescent cell antigen-like domains 2																																				SO:0001589	frameshift_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128398541_128398547delTCACACT	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.677_683delAGTGTGA	2.37:g.128398541_128398547delTCACACT	ENSP00000347240:p.Lys226fs					LIMS2_ENST00000409254.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000324938.5_Frame_Shift_Del_p.KCE250fs|LIMS2_ENST00000410038.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000355119.4_Frame_Shift_Del_p.KCE226fs|LIMS2_ENST00000409754.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409808.2_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000545738.2_Frame_Shift_Del_p.KCE248fs|LIMS2_ENST00000409286.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000410011.1_Frame_Shift_Del_p.KCE221fs	p.KCE221fs			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	7	1297_1303	-	Colorectal(110;0.1)		226			LIM zinc-binding 4.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Frame_Shift_Del	DEL	ENST00000355119.4	37	c.662_668delAGTGTGA	CCDS54395.1																																																																																				0.614	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		24	91						24	91	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52436403	52436403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:52436403delG	ENST00000460680.1	-	17	2562	c.2091delC	c.(2089-2091)tccfs	p.S697fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.S679fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q694fs*14(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCGCCGCACGGAGATGTTCT	0.652			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Deletion - Frameshift(1)	p.Q694fs*14(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2089-2091)tcfs		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							19.0	19.0	19.0					3																	52436403		2190	4292	6482	SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436403delG	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2091delC	3.37:g.52436403delG	ENSP00000417132:p.Ser697fs					BAP1_ENST00000296288.5_Frame_Shift_Del_p.S679fs	p.S697fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	17	2562	-			697			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.2091delC	CCDS2853.1																																																																																				0.652	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			4	4						4	4	---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119252784	119252784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:119252784delA	ENST00000316316.6	-	2	391	c.105delT	c.(103-105)gatfs	p.D35fs	MCM9_ENST00000316068.3_Frame_Shift_Del_p.D35fs	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	35					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGTAATGAGCATCTTCATCCC	0.388																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(103-105)gafs		minichromosome maintenance complex component 9							135.0	122.0	127.0					6																	119252784		2203	4300	6503	SO:0001589	frameshift_variant	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119252784delA	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.105delT	6.37:g.119252784delA	ENSP00000314505:p.Asp35fs					MCM9_ENST00000316068.3_Frame_Shift_Del_p.D35fs	p.D35fs	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	2	391	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	35					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Frame_Shift_Del	DEL	ENST00000316316.6	37	c.105delT	CCDS56447.1																																																																																				0.388	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		16	114						16	114	---	---	---	---
AQP1	358	broad.mit.edu	37	7	30951547	30951552	+	In_Frame_Del	DEL	AGCTCT	AGCTCT	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:30951547_30951552delAGCTCT	ENST00000311813.4	+	1	78_83	c.23_28delAGCTCT	c.(22-30)aagctcttc>atc	p.8_10KLF>I	AQP1_ENST00000509504.1_Intron|AQP1_ENST00000434909.2_Intron	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	8					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TTCAAGAAGAAGCTCTTCTGGAGGGC	0.617																																						ENST00000311813.4																			0				kidney(1)|large_intestine(2)|lung(9)	12						c.(22-30)atc>a		aquaporin 1																																				SO:0001651	inframe_deletion	358							g.chr7:30951547_30951552delAGCTCT	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.23_28delAGCTCT	7.37:g.30951547_30951552delAGCTCT	ENSP00000311165:p.Lys8_Phe10delinsIle					AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron	p.KLF8del	NM_198098.2	NP_932766.1					1	78_83	+		Melanoma(862;0.16)						B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	In_Frame_Del	DEL	ENST00000311813.4	37	c.23_28delAGCTCT	CCDS5431.1																																																																																				0.617	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		16	71						16	71	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88242235	88242235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:88242235delC	ENST00000305447.4	-	9	3313	c.3164delG	c.(3163-3165)ggcfs	p.G1055fs	GRM5_ENST00000305432.5_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000418177.2_Frame_Shift_Del_p.G1055fs|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Frame_Shift_Del_p.G1023fs|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1055					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CATGAGGGAGCCCTGCGAGGA	0.692																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(3163-3165)gcfs		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						9.0	11.0	10.0					11																	88242235		2166	4248	6414	SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242235delC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3164delG	11.37:g.88242235delC	ENSP00000306138:p.Gly1055fs					GRM5_ENST00000455756.2_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000305432.5_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305447.4_Frame_Shift_Del_p.G1055fs	p.G1055fs			P41594	GRM5_HUMAN			10	3531	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1055					Q6J164	Frame_Shift_Del	DEL	ENST00000305447.4	37	c.3164delG	CCDS44694.1																																																																																				0.692	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		2	4						2	4	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14698466	14698467	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:14698466_14698467insTT	ENST00000417570.1	+	3	200_201	c.162_163insTT	c.(163-165)tcafs	p.S55fs	CLEC17A_ENST00000397439.2_Frame_Shift_Ins_p.S55fs|RN7SL842P_ENST00000477654.2_RNA|CLEC17A_ENST00000547437.1_Frame_Shift_Ins_p.S55fs	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	55						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										ACTATGAGAACTCAACACCTCC	0.569																																						ENST00000547437.1																			0											c.(160-165)aacaacfs		C-type lectin domain family 17, member A																																				SO:0001589	frameshift_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14698466_14698467insTT	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		Exception_encountered	19.37:g.14698466_14698467insTT	ENSP00000393719:p.Ser55fs					CLEC17A_ENST00000417570.1_Frame_Shift_Ins_p.N55fs|CLEC17A_ENST00000397439.2_Frame_Shift_Ins_p.N55fs	p.N55fs	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			3	239_240	+			55					A8MX68|B2RTX0|B7ZMM4	Frame_Shift_Ins	INS	ENST00000417570.1	37	c.162_163insTT	CCDS56087.1																																																																																				0.569	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		7	21						7	21	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50118194	50118194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:50118194delA	ENST00000418929.2	+	8	4964	c.4952delA	c.(4951-4953)gaafs	p.E1651fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	830							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAGTTCCTGGAAAATGTCAAT	0.512																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(4951-4953)gafs		proline rich 12							74.0	73.0	73.0					19																	50118194		1891	4106	5997	SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50118194delA	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4952delA	19.37:g.50118194delA	ENSP00000394510:p.Glu1651fs						p.E1651fs	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	8	4964	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	830					E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	c.4952delA	CCDS46143.1																																																																																				0.512	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		28	79						28	79	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34012084	34012084	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr21:34012084delA	ENST00000322229.7	-	29	3593	c.3594delT	c.(3592-3594)attfs	p.I1198fs	SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.I1151fs|SYNJ1_ENST00000382499.2_Frame_Shift_Del_p.I1237fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.I1182fs|SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.I1237fs			O43426	SYNJ1_HUMAN	synaptojanin 1	1198	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACGAGGAGGAATCGTCTACA	0.443																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(3709-3711)atfs		synaptojanin 1							82.0	70.0	74.0					21																	34012084		2203	4300	6503	SO:0001589	frameshift_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34012084delA	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3594delT	21.37:g.34012084delA	ENSP00000322234:p.Ile1198fs					SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.I1237fs|SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.I1151fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.I1182fs|SYNJ1_ENST00000322229.7_Frame_Shift_Del_p.I1198fs	p.I1237fs	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			30	3710	-			1198			Pro-rich.		O43425|O94984|Q4KMR1	Frame_Shift_Del	DEL	ENST00000322229.7	37	c.3711delT	CCDS54484.1																																																																																				0.443	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				18	47						18	47	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---
